ulcerative colitis |
Disease ID | 101 |
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Disease | ulcerative colitis |
Manually Symptom | UMLS | Name(Total Manually Symptoms:401) C2711227 | liver steatosis C2697391 | rheumatoid arthritis C2697384 | colon cancer C2697310 | sarcoidosis C2678504 | osteoporosis C2632116 | stenosis C2609250 | palisaded neutrophilic granulomatous dermatitis C2598155 | pain C2350476 | orbital myositis C2240374 | eosinophilia C2203646 | jaundice C2186740 | urticaria C2186532 | liver disease C2096315 | headache C2096293 | vertigo C2048468 | male infertility C2029884 | hearing loss C2020637 | chronic pain C1994997 | intestinal symptoms C1971021 | potassium depletion C1963919 | backwash ileitis C1963747 | herpes simplex hepatitis C1963274 | vasculitis C1963266 | uveitis C1963211 | pericarditis C1963198 | pancreatitis C1963178 | myelitis C1963165 | malabsorption C1963091 | diarrhea C1963083 | cholecystitis C1963064 | anxiety C1962972 | proteinuria C1962971 | myocarditis C1956391 | temporal arteritis C1839611 | n syndrome C1834174 | neutrophil migration C1801950 | g syndrome C1800706 | usual interstitial pneumonia C1739152 | acute alveolitis C1696087 | uterine fistula C1611280 | allergy C1608408 | malignant transformation C1555769 | pulmonary disease C1550639 | fistula C1541923 | infective endocarditis C1527249 | colorectal cancer C1522057 | duodenitis C1510475 | diverticulosis C1510475 | diverticular disease C1456865 | ureteral stone C1443924 | severe diarrhea C1393529 | vascular complications C1384353 | infestation C1373218 | immunosuppression C1368829 | hyperalimentation C1336864 | undifferentiated carcinoma of the rectum C1335690 | squamous cell carcinoma of the rectum C1335690 | rectal squamous cell carcinoma C1335685 | rectal lymphoma C1335681 | rectal kaposi's sarcoma C1335513 | mucinous adenocarcinoma of the prostate C1333112 | colorectal dysplasia C1333100 | colonic squamous cell carcinoma C1333091 | colonic kaposi's sarcoma C1321033 | toxic megacolon due to clostridium difficile C1302363 | colonic dysplasia C1275718 | granulomatous rosacea C1270880 | pressure urticaria C1268935 | microangiopathic hemolytic anemia C1257843 | pseudomembranous colitis C1167732 | pleuropericarditis C1167650 | chronic polyneuropathy C1142420 | hepatitis b reactivation C1142272 | neutrophilic dermatosis C1136085 | monoclonal gammapathy C1112565 | pneumatosis intestinalis C1096000 | bronchopulmonary disease C1090821 | sepsis C1000483 | anemia C0949691 | spondyloarthropathy C0949690 | spondyloarthritis C0949022 | rectal cancer C0947622 | gallstones C0940937 | precancerous lesions C0878643 | epiphenomenon C0878500 | intraepithelial neoplasia C0878500 | epithelial dysplasia C0868908 | pancolitis C0860204 | cholestatic liver disease C0857496 | thromboembolic event C0856761 | budd-chiari syndrome C0856169 | endothelial dysfunction C0854532 | myopericarditis C0853030 | macroamylasemia C0852879 | pulmonary alveolar hemorrhage C0850639 | premalignant lesion C0836924 | thrombocytosis C0748159 | pulmonary involvement C0747733 | polychondritis C0740985 | acute anemia C0740277 | carcinoma of bile duct C0740277 | bile duct carcinoma C0728936 | circulatory disorders C0702094 | agranulocytosis C0700361 | distress C0699949 | airways disease C0699790 | colonic carcinoma C0699790 | colon carcinoma C0699790 | carcinoma of the colon C0677607 | hashimoto's disease C0598608 | hyperhomocysteinemia C0586370 | dysplasia of the rectum C0586367 | low-grade colorectal dysplasia C0581883 | deafness C0566602 | primary sclerosing cholangitis C0549493 | alveolitis C0549297 | swelling of the ear C0547058 | pseudopolyposis C0524910 | chronic hepatitis c C0521607 | peritoneal fibrosis C0520463 | chronic active hepatitis C0519037 | colonic lymphoma C0517555 | venous thrombosis C0451641 | urolithiasis C0426576 | gastrointestinal symptoms C0410422 | chronic recurrent multifocal osteomyelitis C0406650 | linear iga disease C0406650 | linear iga dermatosis C0406650 | linear iga bullous dermatosis C0406304 | digitate dermatosis C0398650 | immune thrombocytopenic purpura C0398625 | protein c deficiency C0398623 | thrombophilia C0398623 | hypercoagulable state C0398623 | hypercoagulability C0376620 | pouchitis C0348754 | hepatotoxicity C0345904 | liver cancer C0345050 | annuloaortic ectasia C0343190 | cutaneous polyarteritis nodosa C0343101 | wells' syndrome C0343101 | eosinophilic cellulitis C0342801 | thiopurine s-methyltransferase deficiency C0341402 | rectal perforation C0341335 | cytomegalovirus colitis C0341178 | multiple gastric ulcers C0340987 | splenic atrophy C0340704 | superior mesenteric vein thrombosis C0340359 | prosthetic valve endocarditis C0340221 | tracheal obstruction C0338573 | cerebral venous sinus thrombosis C0334108 | polyposis C0281779 | anal condyloma acuminatum C0275685 | listeria septicemia C0272416 | splenic vein thrombosis C0272412 | splenic abscess C0272404 | hyposplenism C0272286 | immune thrombocytopenia C0272126 | evans' syndrome C0271683 | motor polyneuropathy C0271270 | cogan's syndrome C0268382 | renal amyloidosis C0267963 | pancreatic insufficiency C0267792 | hepatobiliary disease C0267557 | secretory diarrhea C0267508 | colitis cystica profunda C0267466 | colonic stricture C0267466 | colon stenosis C0267373 | intestinal bleeding C0267179 | gastrocolic fistula C0267166 | gastroduodenitis C0267000 | pyostomatitis vegetans C0265070 | mondor's disease C0265008 | aortocaval fistula C0263505 | alopecia universalis C0262471 | ent problem C0259749 | autonomic neuropathy C0242770 | bronchiolitis obliterans organizing pneumonia C0242770 | bronchiolitis obliterans organising pneumonia C0241910 | autoimmune chronic active hepatitis C0241266 | subcutaneous abscess C0238463 | papillary thyroid carcinoma C0238304 | chronic interstitial nephritis C0238051 | cerebral vasculitis C0238003 | appendix adenocarcinoma C0235782 | carcinoma of the gallbladder C0235782 | carcinoma of the gall bladder C0234131 | motor dysfunction C0232495 | lower abdominal pain C0221773 | hyperamylasemia C0221406 | cushing's disease C0221014 | secondary amyloidosis C0221002 | primary hyperparathyroidism C0206695 | neuroendocrine carcinoma C0206186 | oral hairy leukoplakia C0206062 | interstitial lung disease C0206061 | interstitial pneumonitis C0198632 | pneumoperitoneum C0178416 | hypoplastic anemia C0162291 | retinal ischemia C0155773 | portal vein thrombosis C0155354 | scleromalacia perforans C0155223 | lacrimal gland inflammation C0154841 | central retinal vein thrombosis C0152966 | pneumococcal septicaemia C0152486 | salmonella sepsis C0152250 | thrombophlebitis migrans C0151945 | cerebral venous thrombosis C0151942 | arterial thrombosis C0151731 | hepatic infarction C0151693 | adrenal haemorrhage C0151436 | leukocytoclastic vasculitis C0149871 | deep venous thrombosis C0149678 | epstein-barr virus infection C0149521 | chronic pancreatitis C0149514 | bronchitis C0087086 | thrombi C0086132 | depressive symptoms C0085655 | polymyositis C0085652 | pyoderma gangrenosum C0085641 | pustular rash C0085605 | hepatic failure C0085273 | parvovirus b19 infection C0085077 | sweet's syndrome C0085077 | sweet syndrome C0079293 | epidermolysis bullosa acquisita C0043092 | wegener's granulomatosis C0042373 | vascular disease C0042165 | anterior uveitis C0042024 | incontinence C0041296 | tuberculosis C0040156 | thyrotoxicosis C0040053 | thrombosis C0040038 | thromboembolism C0040038 | thromboembolic disease C0040034 | thrombocytopenia C0039841 | thiamine deficiency C0039263 | takayasu's disease C0039263 | takayasu's arteritis C0039263 | takayasu arteritis C0038463 | strongyloidiasis C0038454 | cerebral infarction C0038013 | ankylosing spondylitis C0037974 | spirochaetosis C0037763 | spasm C0037285 | skin manifestation C0037284 | skin lesions C0037198 | sinus thrombosis C0037074 | sigmoiditis C0036690 | septicemia C0036690 | septicaemia C0036220 | kaposi's sarcoma C0035204 | respiratory disorders C0035204 | respiratory diseases C0034895 | rectovaginal fistulas C0034150 | purpura C0034067 | emphysema C0034065 | pulmonary embolism C0033860 | psoriasis C0033845 | benign intracranial hypertension C0033838 | kimura's disease C0033252 | rectosigmoiditis C0033246 | rectal inflammation C0032827 | potassium deficiency C0032568 | pseudopolyp C0032453 | relapsing polychondritis C0032305 | pneumocystis carinii pneumonia C0032249 | sideropenic dysphagia C0032231 | pleuritis C0031129 | periphlebitis C0031111 | periostitis C0031052 | pericholangitis C0031036 | polyarteritis nodosa C0030920 | peptic ulcer C0030297 | pancreatic neoplasm C0030297 | neoplasm of the pancreas C0030286 | pancreatic disease C0029440 | osteomas C0029166 | oral manifestation C0029132 | optic neuropathy C0027765 | neurologic disorders C0027726 | nephrotic syndrome C0027547 | necrotizing scleritis C0027121 | myositis C0026896 | myasthenia gravis C0026691 | kawasaki disease C0026684 | appendiceal mucocele C0026266 | mitral insufficiency C0025517 | metabolic disorders C0025162 | toxic megacolon C0025160 | megacolon C0024473 | magnesium deficiency C0024299 | malignant lymphoma C0024299 | lymphoma C0024291 | hemophagocytic syndrome C0024143 | lupus nephritis C0024141 | lupus syndrome C0024115 | lung disease C0024081 | ludwig's angina C0023903 | hepatoma C0023895 | liver diseases C0023895 | hepatopathy C0023646 | lichen planus C0023487 | acute promyelocytic leukemia C0023467 | acute myelogenous leukemia C0023240 | legionella infection C0023223 | leg ulcers C0022951 | lactose malabsorption C0022951 | lactose intolerance C0022658 | nephropathy C0022408 | arthropathy C0022408 | arthropathies C0022354 | obstructive jaundice C0022116 | ischemia C0022104 | irritable bowel syndrome C0021933 | intussusception C0021831 | bowel disease C0021390 | inflammatory bowel disease C0020877 | ileitis C0020550 | hyperthyroidism C0020437 | hypercalcemia C0019693 | hiv infection C0019621 | langerhan's cell histiocytosis C0019112 | haemorrhoids C0019080 | hemorrhage C0018920 | cavernous hemangioma C0018784 | sensorineural hearing loss C0018784 | sensorineural deafness C0018378 | guillain-barre syndrome C0018099 | gout C0017665 | membranous glomerulonephritis C0017662 | mesangiocapillary glomerulonephritis C0017661 | iga nephropathy C0017658 | glomerulonephritis C0017531 | angiofollicular lymph node hyperplasia C0017155 | menetrier's disease C0017155 | menetrier disease C0016470 | food hypersensitivity C0016436 | folliculitis C0016412 | folate deficiency C0015230 | skin rash C0014743 | erythema nodosum C0014130 | endocrine disease C0014118 | endocarditis C0012819 | colonic diverticulosis C0012739 | disseminated intravascular coagulation C0012624 | spondylodiscitis C0011991 | diarrhoea C0011608 | dermatitis herpetiformis C0010823 | cytomegalovirus infection C0010481 | cushing syndrome C0010414 | cryptococcus neoformans infection C0010346 | crohn's disease C0009404 | colorectal neoplasm C0009402 | colorectal carcinomas C0009402 | colorectal carcinoma C0009402 | carcinoma of the large intestine C0009375 | colonic neoplasms C0009373 | colonic disease C0008680 | chronic eosinophilic pneumonia C0008497 | choriocarcinoma C0008370 | cholestasis C0008313 | sclerosing cholangitis C0008312 | primary biliary cirrhosis C0008311 | cholangitis C0008033 | pleuritic pain C0007773 | cerebral arteritis C0007177 | pericardial tamponade C0007177 | cardiac tamponade C0007113 | rectal carcinoma C0007113 | carcinoma of the rectum C0007102 | colonic cancer C0007102 | colon cancers C0007102 | cancer of the colon C0007095 | carcinoid tumours C0006272 | bronchiolitis obliterans C0006271 | bronchiolitis C0006267 | bronchiectasis C0006261 | bronchial disease C0005395 | bile duct disorders C0004936 | mental disorders C0004610 | bacteremia C0004610 | bacteraemia C0004096 | bronchial asthma C0003864 | arthritis C0003862 | arthralgia C0003510 | aortitis syndrome C0003509 | aortitis C0003504 | aortic incompetence C0002880 | autoimmune hemolytic anemia C0002880 | autoimmune haemolytic anaemia C0002878 | hemolytic anemia C0002878 | haemolytic anaemia C0002871 | anaemia C0002438 | amebiasis C0001883 | airway obstruction C0001815 | idiopathic myelofibrosis C0001430 | adenoma C0001418 | adenocarcinoma C0001339 | acute pancreatitis C0000737 | abdominal pain |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:136) C0009402 | colorectal cancer | 38 C0007113 | rectal cancer | 38 C0021831 | bowel disease | 29 C0021390 | inflammatory bowel disease | 22 C0376620 | pouchitis | 15 C0010346 | crohn's disease | 15 C0040053 | thrombosis | 13 C0566602 | primary sclerosing cholangitis | 12 C0008313 | sclerosing cholangitis | 12 C0085652 | pyoderma gangrenosum | 12 C0010823 | cytomegalovirus infection | 11 C0007102 | colon cancer | 11 C0024299 | lymphoma | 9 C0042384 | vasculitis | 8 C0008311 | cholangitis | 8 C0011991 | diarrhea | 7 C0002871 | anemia | 7 C0868908 | pancolitis | 6 C0030305 | pancreatitis | 6 C0042487 | venous thrombosis | 6 C0030193 | pain | 5 C0034150 | purpura | 5 C0334108 | polyposis | 4 C0003864 | arthritis | 4 C0036690 | sepsis | 4 C0040038 | thromboembolism | 4 C0151945 | cerebral venous thrombosis | 4 C0020877 | ileitis | 4 C0002880 | autoimmune haemolytic anaemia | 3 C0000737 | abdominal pain | 3 C0043117 | immune thrombocytopenic purpura | 3 C0027059 | myocarditis | 3 C0085077 | sweet's syndrome | 3 C0041296 | tuberculosis | 3 C0002878 | haemolytic anaemia | 3 C0011991 | diarrhoea | 3 C0039263 | takayasu arteritis | 3 C0007113 | rectal carcinoma | 3 C0238051 | cerebral vasculitis | 3 C1963919 | backwash ileitis | 3 C0037198 | sinus thrombosis | 3 C1302363 | colorectal dysplasia | 3 C0025160 | megacolon | 2 C0027726 | nephrotic syndrome | 2 C0042373 | vascular disease | 2 C0001339 | acute pancreatitis | 2 C0024115 | lung disease | 2 C0406650 | linear iga dermatosis | 2 C0002878 | hemolytic anemia | 2 C0014118 | endocarditis | 2 C0242770 | bronchiolitis obliterans organizing pneumonia | 2 C0878500 | intraepithelial neoplasia | 2 C0014121 | infective endocarditis | 2 C0856761 | budd-chiari syndrome | 2 C0006271 | bronchiolitis | 2 C0854532 | myopericarditis | 2 C0042164 | uveitis | 2 C0004610 | bacteremia | 2 C0003873 | rheumatoid arthritis | 2 C0024291 | hemophagocytic syndrome | 2 C0267166 | gastroduodenitis | 2 C0151436 | leukocytoclastic vasculitis | 2 C0001418 | adenocarcinoma | 2 C0151942 | arterial thrombosis | 2 C0002871 | anaemia | 2 C0022658 | nephropathy | 2 C0026684 | appendiceal mucocele | 2 C0013990 | emphysema | 2 C0002880 | autoimmune hemolytic anemia | 2 C0231303 | distress | 2 C0013298 | duodenitis | 2 C0155223 | lacrimal gland inflammation | 1 C0728936 | circulatory disorders | 1 C0039263 | takayasu's disease | 1 C1384666 | hearing loss | 1 C0002111 | allergy | 1 C0521607 | peritoneal fibrosis | 1 C0007177 | pericardial tamponade | 1 C0017155 | menetrier disease | 1 C0032453 | relapsing polychondritis | 1 C0086132 | depressive symptoms | 1 C0032568 | pseudopolyposis | 1 C0022951 | lactose intolerance | 1 C0002438 | amebiasis | 1 C0032320 | pneumoperitoneum | 1 C0037285 | skin manifestation | 1 C1608408 | malignant transformation | 1 C0029166 | oral manifestation | 1 C0338573 | cerebral venous sinus thrombosis | 1 C0410422 | chronic recurrent multifocal osteomyelitis | 1 C0006272 | bronchiolitis obliterans | 1 C0009402 | colorectal carcinoma | 1 C0032568 | pseudopolyp | 1 C0008350 | gallstones | 1 C0001430 | adenoma | 1 C0040034 | thrombocytopenia | 1 C0149521 | chronic pancreatitis | 1 C0037280 | infestation | 1 C0155773 | portal vein thrombosis | 1 C0949691 | spondyloarthropathy | 1 C0023895 | liver disease | 1 C0016169 | fistula | 1 C0036220 | kaposi's sarcoma | 1 C0426576 | gastrointestinal symptoms | 1 C0747733 | polychondritis | 1 C0267373 | intestinal bleeding | 1 C0009404 | colorectal neoplasm | 1 C0272412 | splenic abscess | 1 C0036202 | sarcoidosis | 1 C0341335 | cytomegalovirus colitis | 1 C0021933 | intussusception | 1 C2350476 | orbital myositis | 1 C1994997 | intestinal symptoms | 1 C0009402 | colorectal carcinomas | 1 C0007177 | cardiac tamponade | 1 C1335690 | rectal squamous cell carcinoma | 1 C0019080 | hemorrhage | 1 C0406650 | linear iga disease | 1 C0018784 | sensorineural hearing loss | 1 C0949690 | spondyloarthritis | 1 C0017661 | iga nephropathy | 1 C1510475 | diverticulosis | 1 C0262471 | ent problem | 1 C0940937 | precancerous lesions | 1 C0087086 | thrombi | 1 C0221002 | primary hyperparathyroidism | 1 C0027121 | myositis | 1 C0003467 | anxiety | 1 C0008312 | primary biliary cirrhosis | 1 C0586367 | low-grade colorectal dysplasia | 1 C0042165 | anterior uveitis | 1 C0206062 | interstitial lung disease | 1 C0016412 | folate deficiency | 1 C0009814 | stenosis | 1 C0017658 | glomerulonephritis | 1 C0007785 | cerebral infarction | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:922) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1000113 | 19098858 | 8792 | TNFRSF11A | umls:C0009324 | BeFree | Allele and genotype frequencies of rs1000113 and rs4958847 were determined in 823 CD (265 younger than 19 years at diagnosis), 353 ulcerative colitis (UC) (130 younger than 19 years at diagnosis), and 578 controls. | 0.000271442 | 2009 | IRGM | 5 | 150860514 | C | T |
rs1004819 | 17786191 | 149233 | IL23R | umls:C0009324 | BeFree | rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381Gln IL23R variant is a protective marker for CD and UC. | 0.326936272 | 2007 | IL23R | 1 | 67204530 | G | A |
rs1004819 | 22735800 | 149233 | IL23R | umls:C0009324 | BeFree | IL-23 receptor gene rs7517847 and rs1004819 SNPs in ulcerative colitis. | 0.326936272 | 2014 | IL23R | 1 | 67204530 | G | A |
rs10063949 | 24284447 | 27034 | ACAD8 | umls:C0009324 | BeFree | Genomic DNA samples from patients with CD (n = 162) and UC (n = 149) from the Manitoba IBD Cohort Study and ethnically matched controls (n = 142) were genotyped for 3 SLC23A1 polymorphisms (rs6596473, rs33972313, and rs10063949) by using TaqMan assays. | 0.010043349 | 2014 | SLC23A1 | 5 | 139383837 | T | C |
rs10063949 | 24284447 | 9963 | SLC23A1 | umls:C0009324 | BeFree | A strong linkage disequilibrium (LD) was observed across the SLC23A1 region (variation rs6596473 with rs10063949) for CD and UC (D' = 0.94 and 0.96, respectively). | 0.000271442 | 2014 | SLC23A1 | 5 | 139383837 | T | C |
rs1016883 | 23128233 | 5334 | PLCL1 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | PLCL1 | 2 | 198016944 | G | A |
rs10174238 | 20454450 | 6775 | STAT4 | umls:C0009324 | BeFree | Genomic DNA from 2704 individuals of Caucasian origin including 857 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1383 healthy, unrelated controls was analyzed for seven SNPs in the STAT4 gene (rs11889341, rs7574865, rs7568275, rs8179673, rs10181656, rs7582694, rs10174238). | 0.006362715 | 2010 | STAT4 | 2 | 191108308 | G | A |
rs10181656 | 20454450 | 6775 | STAT4 | umls:C0009324 | BeFree | Genomic DNA from 2704 individuals of Caucasian origin including 857 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1383 healthy, unrelated controls was analyzed for seven SNPs in the STAT4 gene (rs11889341, rs7574865, rs7568275, rs8179673, rs10181656, rs7582694, rs10174238). | 0.006362715 | 2010 | STAT4 | 2 | 191105153 | G | C |
rs1042522 | 20309662 | 7157 | TP53 | umls:C0009324 | BeFree | R72P polymorphism of TP53 in ulcerative colitis patients is associated with the incidence of colectomy, use of steroids and the presence of a positive family history. | 0.026664774 | 2010 | TP53 | 17 | 7676154 | G | T,C |
rs1045642 | 17260353 | 5243 | ABCB1 | umls:C0009324 | BeFree | A total of 211 patients with Crohn's disease (CD), 97 patients with ulcerative colitis (UC), and 212 control subjects were investigated for the presence of MDR1 G2677T/A and C3435T polymorphisms. | 0.054051573 | 2007 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 16462040 | 5243 | ABCB1 | umls:C0009324 | BeFree | MDR1 C3435T polymorphism is predictive of later onset of ulcerative colitis in Japanese. | 0.054051573 | 2006 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 24687344 | 5243 | ABCB1 | umls:C0009324 | BeFree | In regard to the clinical implications of MDR1 SNPs, it was found in large meta-analysis that C3435T SNP was associated with a slight increase in the susceptibility to ulcerative colitis and cancer and was related with slight modifications in tacrolimus pharmacokinetics and platinum-based chemotherapy response in lung cancer. | 0.054051573 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 17242936 | 5243 | ABCB1 | umls:C0009324 | BeFree | The frequency of C3435T MDR1 gene polymorphism in Iranian patients with ulcerative colitis. | 0.054051573 | 2007 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 12512026 | 5243 | ABCB1 | umls:C0009324 | BeFree | Association between the C3435T MDR1 gene polymorphism and susceptibility for ulcerative colitis. | 0.054051573 | 2003 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 15685540 | 5243 | ABCB1 | umls:C0009324 | BeFree | This was a case-control analysis of MDR1 C3435T and G2677T SNPs in a large well-characterized Scottish white cohort (335 with ulcerative colitis [UC], 268 with Crohn's disease [CD], and 370 healthy controls). | 0.054051573 | 2005 | ABCB1 | 7 | 87509329 | A | T,G |
rs10491434 | 24911414 | 60498 | IGAN1 | umls:C0009324 | BeFree | These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). | 0.000271442 | 2014 | IL7R | 5 | 35877812 | A | G |
rs1049353 | 20195480 | 1268 | CNR1 | umls:C0009324 | BeFree | The CNR1 p.Thr453Thr polymorphism appears to modulate UC susceptibility and the CD phenotype. | 0.002638474 | 2010 | CNR1 | 6 | 88143916 | C | T |
rs10499563 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | NA | 7 | 22720869 | T | C |
rs10499563 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | NA | 7 | 22720869 | T | C |
rs10758669 | 24385239 | 3717 | JAK2 | umls:C0009324 | BeFree | JAK2 rs10758669 polymorphisms and susceptibility to ulcerative colitis and Crohn's disease: a meta-analysis. | 0.131368221 | 2015 | NA | 9 | 4981602 | C | A |
rs10758669 | 22065112 | 6774 | STAT3 | umls:C0009324 | BeFree | Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, 95% CI = 1.04-1.50) and STAT3 rs744166 (p = 0.04, OR = 0.83, 95% CI = 0.688-0.998) with CD, but not UC. | 0.135254284 | 2012 | NA | 9 | 4981602 | C | A |
rs10758669 | 20228799 | 10171 | RCL1 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.004734064 | 2010 | NA | 9 | 4981602 | C | A |
rs10758669 | 22269120 | 9034 | CCRL2 | umls:C0009324 | BeFree | Here, we studied the susceptibility nature of three components of IL23 signalling and Th17 cell differentiation: JAK2 rs10758669, STAT3 rs744166 and CCR6 rs2301436 initially associated with CD in Hungarian CD and UC patients. | 0.001085767 | 2012 | NA | 9 | 4981602 | C | A |
rs10758669 | 21297633 | 10171 | RCL1 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.004734064 | 2011 | NA | 9 | 4981602 | C | A |
rs10758669 | 22065112 | 3717 | JAK2 | umls:C0009324 | BeFree | Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, 95% CI = 1.04-1.50) and STAT3 rs744166 (p = 0.04, OR = 0.83, 95% CI = 0.688-0.998) with CD, but not UC. | 0.131368221 | 2012 | NA | 9 | 4981602 | C | A |
rs10758669 | 20228799 | 3717 | JAK2 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.131368221 | 2010 | NA | 9 | 4981602 | C | A |
rs10781499 | 21297633 | 64170 | CARD9 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.250282454 | 2011 | CARD9 | 9 | 136371953 | G | A |
rs10781499 | 21297633 | 64170 | CARD9 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.250282454 | 2011 | CARD9 | 9 | 136371953 | G | A |
rs10781500 | 19915572 | 64170 | CARD9 | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.250282454 | 2009 | CARD9 | 9 | 136374886 | C | T |
rs10800309 | 20228799 | 9103 | FCGR2C | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.002367032 | 2010 | NA | 1 | 161502368 | A | G |
rs10800309 | 20228799 | 2212 | FCGR2A | umls:C0009324 | GAD | [After testing an independent cohort of 2,009 cases of ulcerative colitis and 1,580 controls, we identified 13 loci that were significantly associated with ulcerative colitis (P < 5 x 10(-8)), including the immunoglobulin receptor gene FCGR2A, 5p15, 2p16 and ORMDL3 (orosomucoid1-like 3).] | 0.248186863 | 2010 | NA | 1 | 161502368 | A | G |
rs10800309 | 20228799 | 257177 | CFAP126 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.002367032 | 2010 | NA | 1 | 161502368 | A | G |
rs10883365 | 21049557 | 159296 | NKX2-3 | umls:C0009324 | BeFree | NKX2-3 rs10883365 variant allele was associated with increased risk for CD (P = 0.009, OR = 1.24, 95% CI = 1.06-1.48) and UC (P = 0.001, OR = 1.36, 95% CI = 1.13-1.63), whereas variant IRGM allele increased risk for CD (P = 0.029, OR = 1.36, 95% CI = 1.03-1.79). | 0.257816813 | 2010 | LINC01475 | 10 | 99528007 | G | A |
rs10889677 | 19122664 | 149233 | IL23R | umls:C0009324 | GWASCAT | Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. | 0.326936272 | 2009 | IL23R | 1 | 67259437 | C | A |
rs10975003 | 19915573 | 3717 | JAK2 | umls:C0009324 | GAD | [A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.] | 0.131368221 | 2009 | NA | 9 | 5213687 | T | C |
rs10975003 | 19915573 | 11172 | INSL6 | umls:C0009324 | GAD | [A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.] | 0.002367032 | 2009 | NA | 9 | 5213687 | T | C |
rs10975003 | 19915573 | 3641 | INSL4 | umls:C0009324 | GAD | [A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.] | 0.002367032 | 2009 | NA | 9 | 5213687 | T | C |
rs11150589 | 23128233 | 3683 | ITGAL | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12272435 | 2012 | ITGAL | 16 | 30471173 | T | C |
rs11190140 | 20228799 | 159296 | NKX2-3 | umls:C0009324 | GWASCAT | Genome-wide association identifies multiple ulcerative colitis susceptibility loci. | 0.257816813 | 2010 | NKX2-3;LINC01475 | 10 | 99531836 | T | C |
rs11190140 | 20228799 | 159296 | NKX2-3 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.257816813 | 2010 | NKX2-3;LINC01475 | 10 | 99531836 | T | C |
rs11190140 | 20228799 | 101927324 | LINC01475 | umls:C0009324 | GWASCAT | Genome-wide association identifies multiple ulcerative colitis susceptibility loci. | 0.12 | 2010 | NKX2-3;LINC01475 | 10 | 99531836 | T | C |
rs11205387 | 19068216 | 1893 | ECM1 | umls:C0009324 | BeFree | We also genotyped the UC-associated ECM1 variant rs11205387 in 1560 CD patients and 3028 controls. | 0.126991475 | 2009 | ECM1;LOC105371435 | 1 | 150510262 | G | A |
rs11209026 | 24611330 | 149233 | IL23R | umls:C0009324 | BeFree | The aim of this study was to determine whether the specific rs11209026 and rs7530511 single-nucleotide polymorphisms in the Interleukin-23 receptor gene are associated with Crohn's disease and ulcerative colitis in a Croatian patient population. | 0.326936272 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 20082483 | 64127 | NOD2 | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.233979892 | 2010 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 20192940 | 149233 | IL23R | umls:C0009324 | GAD | [IL23R was expressed in both CD and UC with a great variability.] | 0.326936272 | 2010 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 19276991 | 149233 | IL23R | umls:C0009324 | BeFree | We confirm the association of CD with variants in the IL-23R and ATG16L1 genes and the more modest association of the IL-23R R381Q variant with UC. | 0.326936272 | 2009 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 21297633 | 149233 | IL23R | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.326936272 | 2011 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 17877509 | 149233 | IL23R | umls:C0009324 | BeFree | Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease but also ulcerative colitis. | 0.326936272 | 2007 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 17894849 | 149233 | IL23R | umls:C0009324 | BeFree | We also provide further evidence for association of rs11209026 with UC and a report of an additive effect between IL23R and CARD15 genotypes in CD. | 0.326936272 | 2007 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 19915572 | 149233 | IL23R | umls:C0009324 | GWASCAT | Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. | 0.326936272 | 2009 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 19122664 | 149233 | IL23R | umls:C0009324 | GWASCAT | Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. | 0.326936272 | 2009 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 19276991 | 55054 | ATG16L1 | umls:C0009324 | BeFree | We confirm the association of CD with variants in the IL-23R and ATG16L1 genes and the more modest association of the IL-23R R381Q variant with UC. | 0.03283333 | 2009 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 20082483 | 55054 | ATG16L1 | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.03283333 | 2010 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 19294505 | 149233 | IL23R | umls:C0009324 | BeFree | The results suggest that IL23R R381Q confers protection against CD and that L310P confers protection against UC in females. | 0.326936272 | 2010 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 20082483 | 149233 | IL23R | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.326936272 | 2010 | IL23R | 1 | 67240275 | G | A |
rs11209026 | 17786191 | 149233 | IL23R | umls:C0009324 | BeFree | rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381Gln IL23R variant is a protective marker for CD and UC. | 0.326936272 | 2007 | IL23R | 1 | 67240275 | G | A |
rs11264799 | 17389014 | 64127 | NOD2 | umls:C0009324 | BeFree | Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G, rs7528684 and -110C>T, rs11264799) in patients with IBD and their interaction with HLA-DRB1 and CARD15 in patients with UC and CD, respectively. | 0.233979892 | 2007 | FCRL3 | 1 | 157700967 | C | T |
rs1126510 | 23128233 | 5739 | PTGIR | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | PTGIR | 19 | 46620526 | A | G |
rs1127233 | 17058067 | 4583 | MUC2 | umls:C0009324 | BeFree | Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. | 0.081628651 | 2006 | MUC13 | 3 | 124908177 | T | G |
rs1127233 | 17058067 | 4585 | MUC4 | umls:C0009324 | BeFree | Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. | 0.000542884 | 2006 | MUC13 | 3 | 124908177 | T | G |
rs1127233 | 17058067 | 56667 | MUC13 | umls:C0009324 | BeFree | Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. | 0.000271442 | 2006 | MUC13 | 3 | 124908177 | T | G |
rs11465996 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11465996 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | LY96 | 8 | 73989727 | C | G |
rs11540654 | 20309662 | 7157 | TP53 | umls:C0009324 | BeFree | R72P polymorphism of TP53 in ulcerative colitis patients is associated with the incidence of colectomy, use of steroids and the presence of a positive family history. | 0.026664774 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
rs11554257 | 20848476 | 9966 | TNFSF15 | umls:C0009324 | BeFree | Comparison of the MR-UC subjects with healthy controls confirmed the contribution of the major histocompatibility complex to severe UC (peak association: rs17207986, P = 1.4 × 10(-16)) and provided genome-wide suggestive association at the TNFSF15 (TL1A) locus (peak association: rs11554257, P = 1.4 × 10(-6)). | 0.259445464 | 2010 | NA | 9 | 114842790 | T | C |
rs11568563 | 22685416 | 6579 | SLCO1A2 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | SLCO1A2 | 12 | 21304500 | T | G |
rs11568563 | 22685416 | 3663 | IRF5 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.121357209 | 2012 | SLCO1A2 | 12 | 21304500 | T | G |
rs11568563 | 22685416 | 22915 | MMRN1 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | SLCO1A2 | 12 | 21304500 | T | G |
rs11584383 | 20228799 | 647215 | MROH3P | umls:C0009324 | GWASCAT | Genome-wide association identifies multiple ulcerative colitis susceptibility loci. | 0.122367032 | 2010 | MROH3P | 1 | 200966738 | T | C |
rs11584383 | 20228799 | 647215 | MROH3P | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.122367032 | 2010 | MROH3P | 1 | 200966738 | T | C |
rs11614913 | 20848167 | 574501 | MIR499A | umls:C0009324 | BeFree | We evaluated the associations of three SNPs (rs11614913, rs2910164, and rs3746444) in pre-miRNAs (miR-196a2, miR-146a, and miR-499) with the risk of ulcerative colitis (UC) in a Japanese population. | 0.000271442 | 2011 | MIR196A2 | 12 | 53991815 | C | T |
rs11614913 | 20848167 | 406938 | MIR146A | umls:C0009324 | BeFree | We evaluated the associations of three SNPs (rs11614913, rs2910164, and rs3746444) in pre-miRNAs (miR-196a2, miR-146a, and miR-499) with the risk of ulcerative colitis (UC) in a Japanese population. | 0.000542884 | 2011 | MIR196A2 | 12 | 53991815 | C | T |
rs11676348 | 21297633 | 3579 | CXCR2 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.122638474 | 2011 | NA | 2 | 218145423 | C | T |
rs11739663 | 21297633 | 6550 | SLC9A3 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.005276948 | 2011 | NA | 5 | 593968 | T | C |
rs11805303 | 22426692 | 64127 | NOD2 | umls:C0009324 | BeFree | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. | 0.233979892 | 2012 | IL23R | 1 | 67209833 | C | T |
rs11805303 | 22426692 | 149233 | IL23R | umls:C0009324 | BeFree | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. | 0.326936272 | 2012 | IL23R | 1 | 67209833 | C | T |
rs11805303 | 22426692 | 5771 | PTPN2 | umls:C0009324 | BeFree | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. | 0.129358507 | 2012 | IL23R | 1 | 67209833 | C | T |
rs11825977 | 17058067 | 4585 | MUC4 | umls:C0009324 | BeFree | Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. | 0.000542884 | 2006 | NA | 11 | 1075920 | G | A |
rs11825977 | 17058067 | 56667 | MUC13 | umls:C0009324 | BeFree | Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. | 0.000271442 | 2006 | NA | 11 | 1075920 | G | A |
rs11825977 | 17058067 | 4583 | MUC2 | umls:C0009324 | BeFree | Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. | 0.081628651 | 2006 | NA | 11 | 1075920 | G | A |
rs11889341 | 20454450 | 6775 | STAT4 | umls:C0009324 | BeFree | Genomic DNA from 2704 individuals of Caucasian origin including 857 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1383 healthy, unrelated controls was analyzed for seven SNPs in the STAT4 gene (rs11889341, rs7574865, rs7568275, rs8179673, rs10181656, rs7582694, rs10174238). | 0.006362715 | 2010 | STAT4 | 2 | 191079016 | C | T |
rs11938228 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs11938228 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | TLR2 | 4 | 153700794 | C | A |
rs12261843 | 21297633 | 219771 | CCNY | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.252735362 | 2011 | CCNY | 10 | 35265126 | T | G |
rs12261843 | 21297633 | 219771 | CCNY | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.252735362 | 2011 | CCNY | 10 | 35265126 | T | G |
rs12377632 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12377632 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | TLR4 | 9 | 117710452 | T | C |
rs12612347 | 19944697 | 151306 | GPBAR1 | umls:C0009324 | BeFree | Of 15 established ulcerative colitis susceptibility loci, significant replication was obtained at chromosomes 2q35 and 3p21 (rs12612347: OR, 1.26; 95% CI, 1.06-1.50; and rs3197999: OR, 1.22; 95% CI, 1.02-1.47, respectively), with circumstantial evidence supporting the G-protein-coupled bile acid receptor 1 and macrophage-stimulating 1, respectively, as the likely disease genes. | 0.002909916 | 2010 | NA | 2 | 218192615 | A | G |
rs1297265 | 23511034 | 7332 | UBE2L3 | umls:C0009324 | BeFree | FOS, UBE2L3, the JAK2 gene region, and rs1297265 at chromosome arm 21q21.1 likely play a role in both Crohn's disease and UC. | 0.000542884 | 2013 | LOC101927745 | 21 | 15444732 | A | G |
rs1297265 | 21297633 | 8204 | NRIP1 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.004734064 | 2011 | LOC101927745 | 21 | 15444732 | A | G |
rs1297265 | 23511034 | 3717 | JAK2 | umls:C0009324 | BeFree | FOS, UBE2L3, the JAK2 gene region, and rs1297265 at chromosome arm 21q21.1 likely play a role in both Crohn's disease and UC. | 0.131368221 | 2013 | LOC101927745 | 21 | 15444732 | A | G |
rs1297265 | 23511034 | 2353 | FOS | umls:C0009324 | BeFree | FOS, UBE2L3, the JAK2 gene region, and rs1297265 at chromosome arm 21q21.1 likely play a role in both Crohn's disease and UC. | 0.000542884 | 2013 | LOC101927745 | 21 | 15444732 | A | G |
rs13003464 | 20228799 | 5966 | REL | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.002909916 | 2010 | PUS10 | 2 | 60959694 | A | G |
rs13003464 | 20228799 | 150962 | PUS10 | umls:C0009324 | GWASCAT | Genome-wide association identifies multiple ulcerative colitis susceptibility loci. | 0.127101096 | 2010 | PUS10 | 2 | 60959694 | A | G |
rs13003464 | 20228799 | 150962 | PUS10 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.127101096 | 2010 | PUS10 | 2 | 60959694 | A | G |
rs1317209 | 20228799 | 54546 | RNF186 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.12973957 | 2010 | RNF186 | 1 | 19813543 | G | A |
rs1317209 | 20228799 | 54546 | RNF186 | umls:C0009324 | GWASCAT | Genome-wide association identifies multiple ulcerative colitis susceptibility loci. | 0.12973957 | 2010 | RNF186 | 1 | 19813543 | G | A |
rs1317209 | 20228799 | 23252 | OTUD3 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.129468128 | 2010 | RNF186 | 1 | 19813543 | G | A |
rs1317209 | 20228799 | 30814 | PLA2G2E | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.007101096 | 2010 | RNF186 | 1 | 19813543 | G | A |
rs13361189 | 19491842 | 345611 | IRGM | umls:C0009324 | BeFree | In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorphisms as important markers for CD susceptibility and indicate that these variants are also associated with UC. | 0.123995683 | 2009 | NA | 5 | 150843825 | T | C |
rs13361189 | 19491842 | 55054 | ATG16L1 | umls:C0009324 | BeFree | In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorphisms as important markers for CD susceptibility and indicate that these variants are also associated with UC. | 0.03283333 | 2009 | NA | 5 | 150843825 | T | C |
rs1405655 | 21245992 | 4790 | NFKB1 | umls:C0009324 | BeFree | Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-activated receptor (PPAR)-γ (PPARγ) PPARγ Pro12Ala (rs 1801282) and C1431T (rs 3856806); pregnane X receptor (PXR) (NR1I2) PXR A-24381C (rs1523127), C8055T (2276707), and A7635G (rs 6785049); and liver X receptor (LXR) (NR1H2) LXR T-rs1405655-C and T-rs2695121-C were assessed in a Danish case-control study of 327 Crohn's disease patients, 495 ulcerative colitis (UC) patients, and 779 healthy controls. | 0.1312586 | 2011 | NR1H2 | 19 | 50379362 | T | C |
rs1456893 | 21830272 | 149233 | IL23R | umls:C0009324 | BeFree | Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, and IL-23R) and 11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated. | 0.326936272 | 2011 | NA | 7 | 50230076 | G | A |
rs1456893 | 21830272 | 4485 | MST1 | umls:C0009324 | BeFree | Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, and IL-23R) and 11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated. | 0.254092571 | 2011 | NA | 7 | 50230076 | G | A |
rs1523127 | 21245992 | 4790 | NFKB1 | umls:C0009324 | BeFree | Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-activated receptor (PPAR)-γ (PPARγ) PPARγ Pro12Ala (rs 1801282) and C1431T (rs 3856806); pregnane X receptor (PXR) (NR1I2) PXR A-24381C (rs1523127), C8055T (2276707), and A7635G (rs 6785049); and liver X receptor (LXR) (NR1H2) LXR T-rs1405655-C and T-rs2695121-C were assessed in a Danish case-control study of 327 Crohn's disease patients, 495 ulcerative colitis (UC) patients, and 779 healthy controls. | 0.1312586 | 2011 | NR1I2 | 3 | 119782192 | C | A |
rs1545620 | 21648020 | 4650 | MYO9B | umls:C0009324 | BeFree | In addition to the IL2/IL21 locus, we observed association of the TT genotype of SNP rs1545620 in MYO9B with UC (P = 0.0169; OR = 0.29, 95% CI 0.11-0.78) and association of rs17375018 in IL23R with pancolitis in Chinese UC patients (P = 0.002; OR = 2.38, 95% CI 1.41-4.02). | 0.006991475 | 2011 | MYO9B | 19 | 17192965 | T | G |
rs1545620 | 21648020 | 149233 | IL23R | umls:C0009324 | BeFree | In addition to the IL2/IL21 locus, we observed association of the TT genotype of SNP rs1545620 in MYO9B with UC (P = 0.0169; OR = 0.29, 95% CI 0.11-0.78) and association of rs17375018 in IL23R with pancolitis in Chinese UC patients (P = 0.002; OR = 2.38, 95% CI 1.41-4.02). | 0.326936272 | 2011 | MYO9B | 19 | 17192965 | T | G |
rs1554973 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | NA | 9 | 117718534 | T | C |
rs1554973 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | NA | 9 | 117718534 | T | C |
rs1558744 | 19122664 | 50616 | IL22 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.004810009 | 2009 | NA | 12 | 68110812 | G | A |
rs1558744 | 19122664 | 3458 | IFNG | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.011530042 | 2009 | NA | 12 | 68110812 | G | A |
rs1558744 | 20228799 | 55801 | IL26 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.12764398 | 2010 | NA | 12 | 68110812 | G | A |
rs1558744 | 19122664 | 55801 | IL26 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.12764398 | 2009 | NA | 12 | 68110812 | G | A |
rs1558744 | 20228799 | 3458 | IFNG | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.011530042 | 2010 | NA | 12 | 68110812 | G | A |
rs1561570 | 22685416 | 6579 | SLCO1A2 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | OPTN | 10 | 13113726 | T | C |
rs1561570 | 22685416 | 22915 | MMRN1 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | OPTN | 10 | 13113726 | T | C |
rs1561570 | 22685416 | 3663 | IRF5 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.121357209 | 2012 | OPTN | 10 | 13113726 | T | C |
rs16940202 | 21297633 | 3394 | IRF8 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.002367032 | 2011 | NA | 16 | 85980635 | T | C |
rs1695 | 21234761 | 2950 | GSTP1 | umls:C0009324 | BeFree | XRCC1 Arg399Gln and GSTP1 Ile104Val polymorphisms may influence the CIHM status in the rectal mucosa of UC patients and may be substantially involved in UC-associated carcinogenesis. | 0.003181358 | 2011 | GSTP1 | 11 | 67585218 | A | G |
rs1701704 | 22685416 | 6579 | SLCO1A2 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | IKZF4;LOC105369781 | 12 | 56018703 | T | G |
rs1701704 | 22685416 | 22915 | MMRN1 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | IKZF4;LOC105369781 | 12 | 56018703 | T | G |
rs1701704 | 22685416 | 3663 | IRF5 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.121357209 | 2012 | IKZF4;LOC105369781 | 12 | 56018703 | T | G |
rs17085007 | 19915573 | 219333 | USP12 | umls:C0009324 | GAD | [A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.] | 0.002367032 | 2009 | NA | 13 | 26957130 | T | C |
rs17085007 | 21297633 | 2835 | GPR12 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.004734064 | 2011 | NA | 13 | 26957130 | T | C |
rs17085007 | 19915573 | 2835 | GPR12 | umls:C0009324 | GAD | [A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.] | 0.004734064 | 2009 | NA | 13 | 26957130 | T | C |
rs17207986 | 20848476 | 9966 | TNFSF15 | umls:C0009324 | BeFree | Comparison of the MR-UC subjects with healthy controls confirmed the contribution of the major histocompatibility complex to severe UC (peak association: rs17207986, P = 1.4 × 10(-16)) and provided genome-wide suggestive association at the TNFSF15 (TL1A) locus (peak association: rs11554257, P = 1.4 × 10(-6)). | 0.259445464 | 2010 | NA | 6 | 32111790 | T | C |
rs1728785 | 19915572 | 999 | CDH1 | umls:C0009324 | GAD | [Of note, CDH1 has recently been associated with susceptibility to colorectal cancer, an established complication of longstanding ulcerative colitis.] | 0.124267125 | 2009 | ZFP90 | 16 | 68557327 | A | C |
rs1728785 | 19915572 | 146198 | ZFP90 | umls:C0009324 | GWASCAT | Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. | 0.120271442 | 2009 | ZFP90 | 16 | 68557327 | A | C |
rs1728785 | 23128233 | 146198 | ZFP90 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.120271442 | 2012 | ZFP90 | 16 | 68557327 | A | C |
rs1736135 | 20228799 | 8204 | NRIP1 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.004734064 | 2010 | LOC101927745 | 21 | 15432901 | T | C |
rs17375018 | 21648020 | 149233 | IL23R | umls:C0009324 | BeFree | In addition to the IL2/IL21 locus, we observed association of the TT genotype of SNP rs1545620 in MYO9B with UC (P = 0.0169; OR = 0.29, 95% CI 0.11-0.78) and association of rs17375018 in IL23R with pancolitis in Chinese UC patients (P = 0.002; OR = 2.38, 95% CI 1.41-4.02). | 0.326936272 | 2011 | IL23R | 1 | 67189464 | G | A |
rs17375018 | 21648020 | 4650 | MYO9B | umls:C0009324 | BeFree | In addition to the IL2/IL21 locus, we observed association of the TT genotype of SNP rs1545620 in MYO9B with UC (P = 0.0169; OR = 0.29, 95% CI 0.11-0.78) and association of rs17375018 in IL23R with pancolitis in Chinese UC patients (P = 0.002; OR = 2.38, 95% CI 1.41-4.02). | 0.006991475 | 2011 | IL23R | 1 | 67189464 | G | A |
rs1738074 | 22592522 | 117289 | TAGAP | umls:C0009324 | BeFree | In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. | 0.000271442 | 2012 | TAGAP;LOC105378082 | 6 | 159044945 | T | C |
rs1738074 | 22592522 | 102723996 | LOC102723996 | umls:C0009324 | BeFree | In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. | 0.000542884 | 2012 | TAGAP;LOC105378082 | 6 | 159044945 | T | C |
rs1738074 | 22592522 | 9844 | ELMO1 | umls:C0009324 | BeFree | In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. | 0.000271442 | 2012 | TAGAP;LOC105378082 | 6 | 159044945 | T | C |
rs17388568 | 21297633 | 132612 | ADAD1 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.125005506 | 2011 | ADAD1 | 4 | 122408207 | G | A |
rs17388568 | 21297633 | 132612 | ADAD1 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.125005506 | 2011 | ADAD1 | 4 | 122408207 | G | A |
rs1799977 | 18200512 | 4292 | MLH1 | umls:C0009324 | BeFree | Evaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulcerative colitis. | 0.012268423 | 2008 | MLH1 | 3 | 37012077 | A | C,G |
rs1799977 | 19371218 | 4292 | MLH1 | umls:C0009324 | BeFree | I219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis. | 0.012268423 | 2009 | MLH1 | 3 | 37012077 | A | C,G |
rs1800629 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | TNF | 6 | 31575254 | G | A |
rs1800629 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | TNF | 6 | 31575254 | G | A |
rs1801274 | 19915573 | 2212 | FCGR2A | umls:C0009324 | GWASCAT | A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. | 0.248186863 | 2009 | FCGR2A | 1 | 161509955 | A | G |
rs1801274 | 21297633 | 2212 | FCGR2A | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.248186863 | 2011 | FCGR2A | 1 | 161509955 | A | G |
rs1801274 | 19915573 | 2212 | FCGR2A | umls:C0009324 | GAD | [A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.] | 0.248186863 | 2009 | FCGR2A | 1 | 161509955 | A | G |
rs1801274 | 21297633 | 2212 | FCGR2A | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.248186863 | 2011 | FCGR2A | 1 | 161509955 | A | G |
rs1801275 | 11378820 | 3566 | IL4R | umls:C0009324 | BeFree | We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nucleotide change A1902G (Gln576Arg) of IL4RA, and IBD phenotypes, with the exception that in the UC group homozygosity for the G1902 allele of IL4RA was less frequent (0.019 vs 0.049, P=0.038). | 0.000542884 | 2001 | IL4R | 16 | 27363079 | A | G |
rs1801275 | 11378820 | 1234 | CCR5 | umls:C0009324 | BeFree | We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nucleotide change A1902G (Gln576Arg) of IL4RA, and IBD phenotypes, with the exception that in the UC group homozygosity for the G1902 allele of IL4RA was less frequent (0.019 vs 0.049, P=0.038). | 0.001085767 | 2001 | IL4R | 16 | 27363079 | A | G |
rs1801282 | 23256116 | 5468 | PPARG | umls:C0009324 | BeFree | We were unable to replicate in a Caucasian cohort the recent association between PPARγ C161T and UC or between PPARγ Pro12Ala and an extensive UC phenotype in a Chinese population. | 0.012897183 | 2013 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801282 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | PPARG | 3 | 12351626 | C | G |
rs1801394 | 21947961 | 4552 | MTRR | umls:C0009324 | BeFree | The variant allele and genotypic frequencies in MTHFR A1298C, MTR A2756G and MTRR A66G genes were significantly higher in patients with UC compared to healthy controls. | 0.002909916 | 2012 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
rs1805087 | 18700049 | 4548 | MTR | umls:C0009324 | BeFree | Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China. | 0.005362824 | 2008 | MTR | 1 | 236885200 | A | G |
rs1805087 | 18700049 | 4524 | MTHFR | umls:C0009324 | BeFree | Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China. | 0.020650783 | 2008 | MTR | 1 | 236885200 | A | G |
rs1805192 | 23256116 | 5468 | PPARG | umls:C0009324 | BeFree | We were unable to replicate in a Caucasian cohort the recent association between PPARγ C161T and UC or between PPARγ Pro12Ala and an extensive UC phenotype in a Chinese population. | 0.012897183 | 2013 | PPARG | 3 | 12379739 | C | G |
rs1816702 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs1816702 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | TLR2 | 4 | 153688371 | T | C |
rs181856615 | 20195480 | 56144 | PCDHA4 | umls:C0009324 | BeFree | The cannabinoid 1 receptor (CNR1) 1359 G/A polymorphism modulates susceptibility to ulcerative colitis and the phenotype in Crohn's disease. | 0.000271442 | 2010 | PCDHA9;PCDHA11;PCDHA10;PCDHA8;PCDHA7;PCDHA6;PCDHA5;PCDHA4;PCDHA3;PCDHA2;PCDHA1 | 5 | 140870462 | G | A |
rs1861494 | 25171510 | 3458 | IFNG | umls:C0009324 | BeFree | Peripheral T cells of UC and Crohn's disease (CD) patients were genotyped for rs1861494 and analyzed for allele-specific and IFNG promoter methylation. | 0.011530042 | 2015 | IFNG | 12 | 68157629 | C | T |
rs187084 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs187084 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | TLR9 | 3 | 52227015 | A | G |
rs1992950 | 20228799 | 23314 | SATB2 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.002367032 | 2010 | SATB2 | 2 | 199425636 | A | G |
rs2032582 | 17260353 | 5243 | ABCB1 | umls:C0009324 | BeFree | A total of 211 patients with Crohn's disease (CD), 97 patients with ulcerative colitis (UC), and 212 control subjects were investigated for the presence of MDR1 G2677T/A and C3435T polymorphisms. | 0.054051573 | 2007 | ABCB1 | 7 | 87531302 | A | T,C |
rs2032582 | 15685540 | 5243 | ABCB1 | umls:C0009324 | BeFree | This was a case-control analysis of MDR1 C3435T and G2677T SNPs in a large well-characterized Scottish white cohort (335 with ulcerative colitis [UC], 268 with Crohn's disease [CD], and 370 healthy controls). | 0.054051573 | 2005 | ABCB1 | 7 | 87531302 | A | T,C |
rs2043211 | 21248762 | 3553 | IL1B | umls:C0009324 | BeFree | The stop allele of rs2043211 was associated with higher serum interleukin-1β levels only in female patients with UC (P = 0.027). | 0.144069907 | 2011 | CARD8 | 19 | 48234449 | A | T |
rs2066842 | 12115195 | 64127 | NOD2 | umls:C0009324 | BeFree | A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls. | 0.233979892 | 2002 | NOD2 | 16 | 50710713 | C | A,T |
rs2066842 | 22426692 | 149233 | IL23R | umls:C0009324 | BeFree | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. | 0.326936272 | 2012 | NOD2 | 16 | 50710713 | C | A,T |
rs2066842 | 22426692 | 5771 | PTPN2 | umls:C0009324 | BeFree | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. | 0.129358507 | 2012 | NOD2 | 16 | 50710713 | C | A,T |
rs2066842 | 24145928 | 64127 | NOD2 | umls:C0009324 | BeFree | Recent studies from India have reported an association with UC and a single polymorphism (SNP) in CARD15/NOD2 (SNP5, rs2066842), which has not been reported in Caucasian UC cohorts. | 0.233979892 | 2014 | NOD2 | 16 | 50710713 | C | A,T |
rs2066842 | 22426692 | 64127 | NOD2 | umls:C0009324 | BeFree | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. | 0.233979892 | 2012 | NOD2 | 16 | 50710713 | C | A,T |
rs2066843 | 21209938 | 64127 | NOD2 | umls:C0009324 | BeFree | Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with ulcerative colitis (UC), and 1446 healthy controls was analyzed for the NOD2 SNPs rs2066843 and rs2076756 and the three main CD-associated NOD2 variants p.Arg702Trp (rs2066844), p.Gly908Arg (rs2066847), and p.Leu1007fsX1008 (rs2066847). | 0.233979892 | 2010 | NOD2 | 16 | 50711288 | C | A,T |
rs2066844 | 16485124 | 64127 | NOD2 | umls:C0009324 | BeFree | We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and three patients with indeterminate colitis (IC), who were heterozygous carriers of one of the common CARD15 mutations [c.2104C>T (p.R702W), c.2722G>C (p.G908R), or c.3019_3020insC (p.Leu1007fsX1008)], the c.2462+10A>C variant, or of a new amino acid substitution in the 3'-end of exon 4. | 0.233979892 | 2006 | NOD2 | 16 | 50712015 | C | T |
rs2066844 | 16010583 | 7099 | TLR4 | umls:C0009324 | BeFree | We observed that the R702W and 1007fs Nod2 alleles and the A299G Tlr4 alleles were significantly more prevalent in patients with CD as compared to healthy controls or patients with ulcerative colitis. | 0.034352361 | 2005 | NOD2 | 16 | 50712015 | C | T |
rs2066844 | 21209938 | 64127 | NOD2 | umls:C0009324 | BeFree | Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with ulcerative colitis (UC), and 1446 healthy controls was analyzed for the NOD2 SNPs rs2066843 and rs2076756 and the three main CD-associated NOD2 variants p.Arg702Trp (rs2066844), p.Gly908Arg (rs2066847), and p.Leu1007fsX1008 (rs2066847). | 0.233979892 | 2010 | NOD2 | 16 | 50712015 | C | T |
rs2066844 | 20082483 | 149233 | IL23R | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.326936272 | 2010 | NOD2 | 16 | 50712015 | C | T |
rs2066844 | 12115195 | 64127 | NOD2 | umls:C0009324 | BeFree | A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls. | 0.233979892 | 2002 | NOD2 | 16 | 50712015 | C | T |
rs2066844 | 16010583 | 64127 | NOD2 | umls:C0009324 | BeFree | We observed that the R702W and 1007fs Nod2 alleles and the A299G Tlr4 alleles were significantly more prevalent in patients with CD as compared to healthy controls or patients with ulcerative colitis. | 0.233979892 | 2005 | NOD2 | 16 | 50712015 | C | T |
rs2066844 | 18680223 | 64127 | NOD2 | umls:C0009324 | BeFree | NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in controls (2.4%, P = 0.001) and in UC (2.3%, P = 0.03). | 0.233979892 | 2008 | NOD2 | 16 | 50712015 | C | T |
rs2066844 | 18680223 | 7099 | TLR4 | umls:C0009324 | BeFree | To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. | 0.034352361 | 2008 | NOD2 | 16 | 50712015 | C | T |
rs2066844 | 12631669 | 64127 | NOD2 | umls:C0009324 | BeFree | We investigated 198 sporadic CD patients, 46 probands with familial CD, 27 CD probands from mixed IBD families, 99 unrelated patients with ulcerative colitis (UC), and 300 control individuals for the occurrence of the CARD15 gene variants R702W, G908R, and 1007fs. | 0.233979892 | 2003 | NOD2 | 16 | 50712015 | C | T |
rs2066844 | 20082483 | 55054 | ATG16L1 | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.03283333 | 2010 | NOD2 | 16 | 50712015 | C | T |
rs2066844 | 20082483 | 64127 | NOD2 | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.233979892 | 2010 | NOD2 | 16 | 50712015 | C | T |
rs2066845 | 23709157 | 64127 | NOD2 | umls:C0009324 | BeFree | Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.87×10(-2) for 1007fs, R720W, and G908R, respectively), but not with ulcerative colitis (p=0.1046, 0.1269, and 0.8929, respectively). | 0.233979892 | 2013 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 21209938 | 64127 | NOD2 | umls:C0009324 | BeFree | Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with ulcerative colitis (UC), and 1446 healthy controls was analyzed for the NOD2 SNPs rs2066843 and rs2076756 and the three main CD-associated NOD2 variants p.Arg702Trp (rs2066844), p.Gly908Arg (rs2066847), and p.Leu1007fsX1008 (rs2066847). | 0.233979892 | 2010 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 20082483 | 149233 | IL23R | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.326936272 | 2010 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 21830272 | 4485 | MST1 | umls:C0009324 | BeFree | Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, and IL-23R) and 11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated. | 0.254092571 | 2011 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 18942754 | 3558 | IL2 | umls:C0009324 | BeFree | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-330, NOD2 G908R, NOD2 L1007fsinsC polymorphisms and both Crohn's disease (CD) and ulcerative colitis (UC) in a Brazilian population. | 0.013072817 | 2009 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 21830272 | 149233 | IL23R | umls:C0009324 | BeFree | Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, and IL-23R) and 11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated. | 0.326936272 | 2011 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 18942754 | 3553 | IL1B | umls:C0009324 | BeFree | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-330, NOD2 G908R, NOD2 L1007fsinsC polymorphisms and both Crohn's disease (CD) and ulcerative colitis (UC) in a Brazilian population. | 0.144069907 | 2009 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 12115195 | 64127 | NOD2 | umls:C0009324 | BeFree | A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls. | 0.233979892 | 2002 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 20082483 | 55054 | ATG16L1 | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.03283333 | 2010 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 18942754 | 64127 | NOD2 | umls:C0009324 | BeFree | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-330, NOD2 G908R, NOD2 L1007fsinsC polymorphisms and both Crohn's disease (CD) and ulcerative colitis (UC) in a Brazilian population. | 0.233979892 | 2009 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 18680223 | 7099 | TLR4 | umls:C0009324 | BeFree | To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. | 0.034352361 | 2008 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 20082483 | 64127 | NOD2 | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.233979892 | 2010 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 16485124 | 64127 | NOD2 | umls:C0009324 | BeFree | We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and three patients with indeterminate colitis (IC), who were heterozygous carriers of one of the common CARD15 mutations [c.2104C>T (p.R702W), c.2722G>C (p.G908R), or c.3019_3020insC (p.Leu1007fsX1008)], the c.2462+10A>C variant, or of a new amino acid substitution in the 3'-end of exon 4. | 0.233979892 | 2006 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 18942754 | 7099 | TLR4 | umls:C0009324 | BeFree | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-330, NOD2 G908R, NOD2 L1007fsinsC polymorphisms and both Crohn's disease (CD) and ulcerative colitis (UC) in a Brazilian population. | 0.034352361 | 2009 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 18942754 | 7097 | TLR2 | umls:C0009324 | BeFree | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-330, NOD2 G908R, NOD2 L1007fsinsC polymorphisms and both Crohn's disease (CD) and ulcerative colitis (UC) in a Brazilian population. | 0.011996981 | 2009 | NOD2 | 16 | 50722629 | G | C,T |
rs2066845 | 12631669 | 64127 | NOD2 | umls:C0009324 | BeFree | We investigated 198 sporadic CD patients, 46 probands with familial CD, 27 CD probands from mixed IBD families, 99 unrelated patients with ulcerative colitis (UC), and 300 control individuals for the occurrence of the CARD15 gene variants R702W, G908R, and 1007fs. | 0.233979892 | 2003 | NOD2 | 16 | 50722629 | G | C,T |
rs2066847 | 20082483 | 149233 | IL23R | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.326936272 | 2010 | NOD2 | 16 | 50729867 | - | C |
rs2066847 | 20082483 | 55054 | ATG16L1 | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.03283333 | 2010 | NOD2 | 16 | 50729867 | - | C |
rs2066847 | 20082483 | 64127 | NOD2 | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.233979892 | 2010 | NOD2 | 16 | 50729867 | - | C |
rs2066847 | 21209938 | 64127 | NOD2 | umls:C0009324 | BeFree | Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with ulcerative colitis (UC), and 1446 healthy controls was analyzed for the NOD2 SNPs rs2066843 and rs2076756 and the three main CD-associated NOD2 variants p.Arg702Trp (rs2066844), p.Gly908Arg (rs2066847), and p.Leu1007fsX1008 (rs2066847). | 0.233979892 | 2010 | NOD2 | 16 | 50729867 | - | C |
rs2076756 | 21209938 | 64127 | NOD2 | umls:C0009324 | BeFree | Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with ulcerative colitis (UC), and 1446 healthy controls was analyzed for the NOD2 SNPs rs2066843 and rs2076756 and the three main CD-associated NOD2 variants p.Arg702Trp (rs2066844), p.Gly908Arg (rs2066847), and p.Leu1007fsX1008 (rs2066847). | 0.233979892 | 2010 | NOD2 | 16 | 50722970 | A | G |
rs2108225 | 19915573 | 1811 | SLC26A3 | umls:C0009324 | GAD | [A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.] | 0.132106602 | 2009 | NA | 7 | 107812658 | G | A |
rs2155219 | 21297633 | 56946 | C11orf30 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.002367032 | 2011 | NA | 11 | 76588150 | G | T |
rs2158836 | 19122664 | 1738 | DLD | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.004734064 | 2009 | LAMB1 | 7 | 107940394 | A | G |
rs2158836 | 19122664 | 1811 | SLC26A3 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.132106602 | 2009 | LAMB1 | 7 | 107940394 | A | G |
rs2158836 | 19122664 | 3912 | LAMB1 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.12764398 | 2009 | LAMB1 | 7 | 107940394 | A | G |
rs2201841 | 20228799 | 149233 | IL23R | umls:C0009324 | GWASCAT | Genome-wide association identifies multiple ulcerative colitis susceptibility loci. | 0.326936272 | 2010 | IL23R | 1 | 67228519 | A | G |
rs2201841 | 24415875 | 50941 | IBD5 | umls:C0009324 | BeFree | The IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not confer susceptibility for UC. | 0.019912403 | 2013 | IL23R | 1 | 67228519 | A | G |
rs2201841 | 24415875 | 149233 | IL23R | umls:C0009324 | BeFree | The IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not confer susceptibility for UC. | 0.326936272 | 2013 | IL23R | 1 | 67228519 | A | G |
rs2241057 | 23977348 | 56603 | CYP26B1 | umls:C0009324 | BeFree | Cytochrome P450 26 B1 (CYP26B1) is involved in the degradation of retinoic acid and the polymorphism rs2241057 has an elevated catabolic function of retinoic acid, why we hypothesized that the rs2241057 polymorphism may affect the risk of Crohn's disease (CD) and Ulcerative Colitis (UC). | 0.000271442 | 2013 | CYP26B1 | 2 | 72134831 | A | G |
rs2241879 | 22457781 | 55054 | ATG16L1 | umls:C0009324 | BeFree | Epistasis analysis showed weak epistasis between the ATG16L1 SNP rs2241879 and PTPN2 SNP rs2542151 (p = 0.024) in CD and between ATG16L1 SNP rs4663396 and PTPN2 SNP rs7234029 (p = 4.68×10⁻³) in UC. | 0.03283333 | 2012 | ATG16L1;SCARNA5 | 2 | 233274822 | G | A |
rs2241880 | 25159710 | 55054 | ATG16L1 | umls:C0009324 | BeFree | In addition, the carriage of T300A variant alleles conferred a protective effect in UC. | 0.03283333 | 2014 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
rs2241880 | 20222171 | 55054 | ATG16L1 | umls:C0009324 | BeFree | The ATG16L1 T300A polymorphism contributes to susceptibility to CD and UC in adults, but different in children, which implicates a role for autophagy in the pathogenesis of IBD. | 0.03283333 | 2010 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
rs2241880 | 19491842 | 345611 | IRGM | umls:C0009324 | BeFree | In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorphisms as important markers for CD susceptibility and indicate that these variants are also associated with UC. | 0.123995683 | 2009 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
rs2241880 | 20082483 | 55054 | ATG16L1 | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.03283333 | 2010 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
rs2241880 | 20082483 | 149233 | IL23R | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.326936272 | 2010 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
rs2241880 | 19491842 | 55054 | ATG16L1 | umls:C0009324 | BeFree | In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorphisms as important markers for CD susceptibility and indicate that these variants are also associated with UC. | 0.03283333 | 2009 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
rs2241880 | 18366306 | 55054 | ATG16L1 | umls:C0009324 | BeFree | With respect to ATG16L1, the G allele of SNP rs2241880 has been shown in multiple association studies to confer strong risk for CD, although its association with UC remains more debatable. | 0.03283333 | 2008 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
rs2241880 | 20082483 | 64127 | NOD2 | umls:C0009324 | BeFree | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). | 0.233979892 | 2010 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
rs2241880 | 18671817 | 55054 | ATG16L1 | umls:C0009324 | BeFree | We confirm the strong association between T300A and CD, specifically ileal subphenotype, and also report the first strong association of this variant with UC. | 0.03283333 | 2008 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
rs2246901 | 17058067 | 4583 | MUC2 | umls:C0009324 | BeFree | Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. | 0.081628651 | 2006 | MUC4 | 3 | 195762138 | C | A |
rs2246901 | 17058067 | 56667 | MUC13 | umls:C0009324 | BeFree | Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. | 0.000271442 | 2006 | MUC4 | 3 | 195762138 | C | A |
rs2246901 | 17058067 | 4585 | MUC4 | umls:C0009324 | BeFree | Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. | 0.000542884 | 2006 | MUC4 | 3 | 195762138 | C | A |
rs2275913 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 22955700 | 3605 | IL17A | umls:C0009324 | BeFree | Influence of IL17A polymorphisms (rs2275913 and rs3748067) on the susceptibility to ulcerative colitis. | 0.007795869 | 2012 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 22028838 | 3605 | IL17A | umls:C0009324 | BeFree | The single nucleotide polymorphism (SNP), rs2275913, in the promoter region of the IL-17 gene is associated with susceptibility to ulcerative colitis. | 0.007795869 | 2011 | IL17A | 6 | 52186235 | G | A |
rs2275913 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | IL17A | 6 | 52186235 | G | A |
rs2289308 | 16494592 | 9231 | DLG5 | umls:C0009324 | BeFree | Six DLG5 variants (p.R30Q, p.P1371Q, p.G1066G, rs2289308, DLG_e26, p.D1507D) were genotyped in two study populations: (1) German IBD patients (CD n = 250; ulcerative colitis (UC) n = 150) and German healthy controls (n = 422); (2) Hungarian IBD patients (CD n = 144; UC n = 124) and Hungarian healthy controls (n = 205). | 0.007177041 | 2006 | DLG5 | 10 | 77819493 | G | A |
rs2297441 | 21297633 | 8771 | TNFRSF6B | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.002638474 | 2011 | TNFRSF6B;RTEL1;RTEL1-TNFRSF6B | 20 | 63696229 | G | A |
rs2297441 | 21297633 | 51750 | RTEL1 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.12 | 2011 | TNFRSF6B;RTEL1;RTEL1-TNFRSF6B | 20 | 63696229 | G | A |
rs2297441 | 21297633 | 100533107 | RTEL1-TNFRSF6B | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.12 | 2011 | TNFRSF6B;RTEL1;RTEL1-TNFRSF6B | 20 | 63696229 | G | A |
rs2298428 | 22592522 | 7332 | UBE2L3 | umls:C0009324 | BeFree | In the subphenotype analysis, rs6974491-ELMO1 (P=0.0002, odds ratio (OR): 2.20) and rs2298428-UBE2L3 (P=5.44 × 10(-5), OR: 2.59) associated with pediatric UC and CD, respectively. | 0.000542884 | 2012 | YDJC | 22 | 21628603 | C | T |
rs2301436 | 22269120 | 9034 | CCRL2 | umls:C0009324 | BeFree | Here, we studied the susceptibility nature of three components of IL23 signalling and Th17 cell differentiation: JAK2 rs10758669, STAT3 rs744166 and CCR6 rs2301436 initially associated with CD in Hungarian CD and UC patients. | 0.001085767 | 2012 | FGFR1OP | 6 | 167024500 | C | T |
rs2305480 | 20228799 | 55876 | GSDMB | umls:C0009324 | GWASCAT | Genome-wide association identifies multiple ulcerative colitis susceptibility loci. | 0.125005506 | 2010 | GSDMB | 17 | 39905943 | G | A |
rs2305480 | 20228799 | 55876 | GSDMB | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.125005506 | 2010 | GSDMB | 17 | 39905943 | G | A |
rs2305480 | 20228799 | 94103 | ORMDL3 | umls:C0009324 | GAD | [After testing an independent cohort of 2,009 cases of ulcerative colitis and 1,580 controls, we identified 13 loci that were significantly associated with ulcerative colitis (P < 5 x 10(-8)), including the immunoglobulin receptor gene FCGR2A, 5p15, 2p16 and ORMDL3 (orosomucoid1-like 3).] | 0.123181358 | 2010 | GSDMB | 17 | 39905943 | G | A |
rs2310173 | 21297633 | 7850 | IL1R2 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.122367032 | 2011 | NA | 2 | 102047167 | T | G |
rs2359952 | 24837172 | 5788 | PTPRC | umls:C0009324 | GWASCAT | Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. | 0.12 | 2015 | PTPRC | 1 | 198687278 | A | G |
rs2395185 | 22694930 | 3122 | HLA-DRA | umls:C0009324 | BeFree | The minor allele T of rs2395185 in HLA-DRA is the risk allele for asthma but the protective allele for ulcerative colitis. | 0.012106602 | 2012 | NA | 6 | 32465390 | G | T |
rs2395185 | 19122664 | 56244 | BTNL2 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.017469426 | 2009 | NA | 6 | 32465390 | G | T |
rs2395185 | 19122664 | 3119 | HLA-DQB1 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.007729856 | 2009 | NA | 6 | 32465390 | G | T |
rs2395185 | 19122664 | 3122 | HLA-DRA | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.012106602 | 2009 | NA | 6 | 32465390 | G | T |
rs2395185 | 19122664 | 3117 | HLA-DQA1 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.124734064 | 2009 | NA | 6 | 32465390 | G | T |
rs242557 | 22685416 | 3663 | IRF5 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.121357209 | 2012 | MAPT | 17 | 45942346 | G | A |
rs242557 | 22685416 | 6579 | SLCO1A2 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | MAPT | 17 | 45942346 | G | A |
rs242557 | 22685416 | 22915 | MMRN1 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | MAPT | 17 | 45942346 | G | A |
rs2430561 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2430561 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | IFNG | 12 | 68158742 | T | A |
rs2476601 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 23974994 | 26191 | PTPN22 | umls:C0009324 | BeFree | SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC. | 0.009001189 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2476601 | 23974994 | 144811 | LACC1 | umls:C0009324 | BeFree | SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC. | 0.002638474 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
rs2488457 | 23456301 | 26191 | PTPN22 | umls:C0009324 | BeFree | Association of PTPN22 gene (rs2488457) polymorphism with ulcerative colitis and high levels of PTPN22 mRNA in ulcerative colitis. | 0.009001189 | 2013 | PTPN22;AP4B1-AS1 | 1 | 113872746 | G | C,A |
rs2542151 | 22426692 | 149233 | IL23R | umls:C0009324 | BeFree | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. | 0.326936272 | 2012 | NA | 18 | 12779948 | G | T |
rs2542151 | 22426692 | 64127 | NOD2 | umls:C0009324 | BeFree | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. | 0.233979892 | 2012 | NA | 18 | 12779948 | G | T |
rs2542151 | 22426692 | 5771 | PTPN2 | umls:C0009324 | BeFree | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. | 0.129358507 | 2012 | NA | 18 | 12779948 | G | T |
rs2542151 | 22021207 | 5771 | PTPN2 | umls:C0009324 | BeFree | The single nucleotide polymorphism (SNP) rs2542151 within the gene locus region encoding protein tyrosine phosphatase non-receptor type 2 (PTPN2) has been associated with Crohn's disease (CD), ulcerative colitis (UC), type-I diabetes, and rheumatoid arthritis. | 0.129358507 | 2012 | NA | 18 | 12779948 | G | T |
rs2542151 | 22457781 | 55054 | ATG16L1 | umls:C0009324 | BeFree | Epistasis analysis showed weak epistasis between the ATG16L1 SNP rs2241879 and PTPN2 SNP rs2542151 (p = 0.024) in CD and between ATG16L1 SNP rs4663396 and PTPN2 SNP rs7234029 (p = 4.68×10⁻³) in UC. | 0.03283333 | 2012 | NA | 18 | 12779948 | G | T |
rs254560 | 23128233 | 100996485 | C5orf66 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | C5orf66 | 5 | 135107916 | G | A |
rs254560 | 21297633 | 5307 | PITX1 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.002367032 | 2011 | C5orf66 | 5 | 135107916 | G | A |
rs254560 | 21297633 | 100996485 | C5orf66 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.12 | 2011 | C5orf66 | 5 | 135107916 | G | A |
rs25487 | 21234761 | 2950 | GSTP1 | umls:C0009324 | BeFree | XRCC1 Arg399Gln and GSTP1 Ile104Val polymorphisms may influence the CIHM status in the rectal mucosa of UC patients and may be substantially involved in UC-associated carcinogenesis. | 0.003181358 | 2011 | XRCC1 | 19 | 43551574 | T | C |
rs25487 | 22193858 | 401637 | OR7E26P | umls:C0009324 | BeFree | The frequency of genotype Arg399Gln (heterozygous) of XRCC1 gene was significantly higher in patients with UC than the controls (odds ratio [OR] 1.73; 95% confidence interval [CI] 1.13-2.64; p = 0.01). | 0.000271442 | 2012 | XRCC1 | 19 | 43551574 | T | C |
rs2569190 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 23049772 | 929 | CD14 | umls:C0009324 | BeFree | Expanding previous results of individual studies, our findings demonstrated that CD14 gene C-260T polymorphism might be a promising candidate marker in susceptibility to UC, especially in Asians. | 0.030638051 | 2012 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs2569190 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | CD14;TMCO6 | 5 | 140633331 | A | G |
rs267939 | 21297633 | 1611 | DAP | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.242638474 | 2011 | DAP | 5 | 10752203 | C | T |
rs267939 | 21297633 | 1611 | DAP | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.242638474 | 2011 | DAP | 5 | 10752203 | C | T |
rs2695121 | 21245992 | 4790 | NFKB1 | umls:C0009324 | BeFree | Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-activated receptor (PPAR)-γ (PPARγ) PPARγ Pro12Ala (rs 1801282) and C1431T (rs 3856806); pregnane X receptor (PXR) (NR1I2) PXR A-24381C (rs1523127), C8055T (2276707), and A7635G (rs 6785049); and liver X receptor (LXR) (NR1H2) LXR T-rs1405655-C and T-rs2695121-C were assessed in a Danish case-control study of 327 Crohn's disease patients, 495 ulcerative colitis (UC) patients, and 779 healthy controls. | 0.1312586 | 2011 | NR1H2 | 19 | 50377484 | T | C |
rs2762051 | 24911414 | 60498 | IGAN1 | umls:C0009324 | BeFree | These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). | 0.000271442 | 2014 | DLEU1 | 13 | 50261579 | C | T |
rs2816958 | 23128233 | 2494 | NR5A2 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.120271442 | 2012 | NR5A2 | 1 | 200132792 | A | G |
rs28362491 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 21245992 | 4790 | NFKB1 | umls:C0009324 | BeFree | Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-activated receptor (PPAR)-γ (PPARγ) PPARγ Pro12Ala (rs 1801282) and C1431T (rs 3856806); pregnane X receptor (PXR) (NR1I2) PXR A-24381C (rs1523127), C8055T (2276707), and A7635G (rs 6785049); and liver X receptor (LXR) (NR1H2) LXR T-rs1405655-C and T-rs2695121-C were assessed in a Danish case-control study of 327 Crohn's disease patients, 495 ulcerative colitis (UC) patients, and 779 healthy controls. | 0.1312586 | 2011 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28362491 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | NFKB1;LOC105377621 | 4 | 102500998 | ATTG | - |
rs28374715 | 23128233 | 11261 | CHP1 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | CHP1 | 15 | 41271752 | A | G |
rs2838519 | 21297633 | 8209 | C21orf33 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.122638474 | 2011 | LOC105377139 | 21 | 44195140 | G | A |
rs2838519 | 21297633 | 8209 | C21orf33 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.122638474 | 2011 | LOC105377139 | 21 | 44195140 | G | A |
rs2858829 | 25082827 | 441168 | FAM26F | umls:C0009324 | BeFree | SNP rs2858829 lies in an intergenic region and is a strong cis-eQTL for FAM26F gene, a gene that is shown to be selectively upregulated in UC colonic mucosa with active inflammation. | 0.000271442 | 2015 | NA | 6 | 116447754 | A | G |
rs2870946 | 19122664 | 55801 | IL26 | umls:C0009324 | GWASCAT | Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. | 0.12764398 | 2009 | IL26;LOC105369818 | 12 | 68202881 | T | C |
rs2870946 | 19122664 | 55801 | IL26 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.12764398 | 2009 | IL26;LOC105369818 | 12 | 68202881 | T | C |
rs2872507 | 22694930 | 55876 | GSDMB | umls:C0009324 | BeFree | The minor allele A of rs2872507 in GSDMB is the protective allele for asthma but the risk allele for rheumatoid arthritis, Crohn disease, and ulcerative colitis. | 0.125005506 | 2012 | NA | 17 | 39884510 | G | A |
rs2872507 | 21297633 | 124626 | ZPBP2 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.004734064 | 2011 | NA | 17 | 39884510 | G | A |
rs2910164 | 20848167 | 574501 | MIR499A | umls:C0009324 | BeFree | We evaluated the associations of three SNPs (rs11614913, rs2910164, and rs3746444) in pre-miRNAs (miR-196a2, miR-146a, and miR-499) with the risk of ulcerative colitis (UC) in a Japanese population. | 0.000271442 | 2011 | LOC285628;MIR146A | 5 | 160485411 | C | G |
rs2910164 | 20848167 | 406938 | MIR146A | umls:C0009324 | BeFree | We evaluated the associations of three SNPs (rs11614913, rs2910164, and rs3746444) in pre-miRNAs (miR-196a2, miR-146a, and miR-499) with the risk of ulcerative colitis (UC) in a Japanese population. | 0.000542884 | 2011 | LOC285628;MIR146A | 5 | 160485411 | C | G |
rs3024493 | 19915572 | 3586 | IL10 | umls:C0009324 | GWASCAT | Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. | 0.294635894 | 2009 | IL10 | 1 | 206770623 | C | A |
rs3024493 | 20228798 | 3586 | IL10 | umls:C0009324 | GWASCAT | Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). | 0.294635894 | 2010 | IL10 | 1 | 206770623 | C | A |
rs3024505 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 20228799 | 29949 | IL19 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.002638474 | 2010 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 20509889 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study. | 0.294635894 | 2010 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 20509889 | 3586 | IL10 | umls:C0009324 | GAD | [The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study.] | 0.294635894 | 2010 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 23348120 | 3586 | IL10 | umls:C0009324 | BeFree | Only one SNP, rs3024505 (Chr 1q32.1, upstream of IL10), was associated with susceptibility to UC. | 0.294635894 | 2013 | NA | 1 | 206766559 | G | A |
rs3024505 | 18836448 | 3586 | IL10 | umls:C0009324 | GAD | [Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.] | 0.294635894 | 2008 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | NA | 1 | 206766559 | G | A |
rs3024505 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | NA | 1 | 206766559 | G | A |
rs3135932 | 18800073 | 3587 | IL10RA | umls:C0009324 | BeFree | The IL-10R1 S138G loss-of-function allele and ulcerative colitis. | 0.005634266 | 2009 | IL10RA | 11 | 117993348 | A | G |
rs3135932 | 18800073 | 6774 | STAT3 | umls:C0009324 | BeFree | In conclusion, the IL-10R1 S138G variant is a loss-of-function allele for IL-10-induced STAT1 and STAT3 activation but does not protect from UC susceptibility. | 0.135254284 | 2009 | IL10RA | 11 | 117993348 | A | G |
rs3135932 | 18800073 | 3586 | IL10 | umls:C0009324 | BeFree | In conclusion, the IL-10R1 S138G variant is a loss-of-function allele for IL-10-induced STAT1 and STAT3 activation but does not protect from UC susceptibility. | 0.294635894 | 2009 | IL10RA | 11 | 117993348 | A | G |
rs3135932 | 18800073 | 6772 | STAT1 | umls:C0009324 | BeFree | In conclusion, the IL-10R1 S138G variant is a loss-of-function allele for IL-10-induced STAT1 and STAT3 activation but does not protect from UC susceptibility. | 0.000542884 | 2009 | IL10RA | 11 | 117993348 | A | G |
rs3194051 | 21297633 | 3575 | IL7R | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.24 | 2011 | IL7R | 5 | 35876172 | A | G |
rs3197999 | 25082827 | 4485 | MST1 | umls:C0009324 | GWASCAT | A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis. | 0.254092571 | 2015 | MST1 | 3 | 49684099 | G | A |
rs3197999 | 19079170 | 4485 | MST1 | umls:C0009324 | BeFree | We then identified a non-synonymous coding variant (rs3197999, R689C) in the macrophage-stimulating 1 (MST1) gene (P-value 3.62 x 10(-6)) that accounts for the association signal, and shows association with both CD and UC. | 0.254092571 | 2008 | MST1 | 3 | 49684099 | G | A |
rs3197999 | 20024904 | 4485 | MST1 | umls:C0009324 | BeFree | BSN and MST1 were significantly associated with either CD (P(rs9858542) 2.5 x 10(-7); P(rs3197999) 3.9 x 10(-7)), and UC (P(rs9858542) = 3.1 x 10(-4); P(rs3197999) = 8 x 10(-4)). | 0.254092571 | 2010 | MST1 | 3 | 49684099 | G | A |
rs3197999 | 20228799 | 4485 | MST1 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.254092571 | 2010 | MST1 | 3 | 49684099 | G | A |
rs3197999 | 19944697 | 151306 | GPBAR1 | umls:C0009324 | BeFree | Of 15 established ulcerative colitis susceptibility loci, significant replication was obtained at chromosomes 2q35 and 3p21 (rs12612347: OR, 1.26; 95% CI, 1.06-1.50; and rs3197999: OR, 1.22; 95% CI, 1.02-1.47, respectively), with circumstantial evidence supporting the G-protein-coupled bile acid receptor 1 and macrophage-stimulating 1, respectively, as the likely disease genes. | 0.002909916 | 2010 | MST1 | 3 | 49684099 | G | A |
rs3197999 | 20228799 | 4485 | MST1 | umls:C0009324 | GWASCAT | Genome-wide association identifies multiple ulcerative colitis susceptibility loci. | 0.254092571 | 2010 | MST1 | 3 | 49684099 | G | A |
rs33972313 | 24284447 | 27034 | ACAD8 | umls:C0009324 | BeFree | Genomic DNA samples from patients with CD (n = 162) and UC (n = 149) from the Manitoba IBD Cohort Study and ethnically matched controls (n = 142) were genotyped for 3 SLC23A1 polymorphisms (rs6596473, rs33972313, and rs10063949) by using TaqMan assays. | 0.010043349 | 2014 | SLC23A1 | 5 | 139379813 | C | T |
rs352139 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352139 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | TLR9 | 3 | 52224356 | T | C |
rs352140 | 19455129 | 50941 | IBD5 | umls:C0009324 | BeFree | The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) in TLR9, the main CD-associated variants within the genes for NOD2, IL23R, ATG16L1, and variants in the IBD5 locus and in the DLG5 gene were assessed in 956 patients with IBD (606 CD and 350 ulcerative colitis) and in 792 healthy controls. | 0.019912403 | 2009 | TLR9 | 3 | 52222681 | C | A,T |
rs352140 | 19455129 | 9231 | DLG5 | umls:C0009324 | BeFree | The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) in TLR9, the main CD-associated variants within the genes for NOD2, IL23R, ATG16L1, and variants in the IBD5 locus and in the DLG5 gene were assessed in 956 patients with IBD (606 CD and 350 ulcerative colitis) and in 792 healthy controls. | 0.007177041 | 2009 | TLR9 | 3 | 52222681 | C | A,T |
rs35675666 | 21297633 | 11315 | PARK7 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.122367032 | 2011 | PARK7 | 1 | 7961913 | G | C,T |
rs35675666 | 21297633 | 11315 | PARK7 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.122367032 | 2011 | PARK7 | 1 | 7961913 | G | C,T |
rs35873774 | 18775308 | 7495 | XBP1P1 | umls:C0009324 | BeFree | An association of XBP1 variants with both forms of human IBD (Crohn's disease and ulcerative colitis) was identified and replicated (rs35873774; p value 1.6 x 10(-5)) with novel, private hypomorphic variants identified as susceptibility factors. | 0.000542884 | 2008 | XBP1 | 22 | 28795944 | A | G |
rs361525 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | TNF | 6 | 31575324 | G | A |
rs361525 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | TNF | 6 | 31575324 | G | A |
rs371209985 | 23709157 | 64127 | NOD2 | umls:C0009324 | BeFree | Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.87×10(-2) for 1007fs, R720W, and G908R, respectively), but not with ulcerative colitis (p=0.1046, 0.1269, and 0.8929, respectively). | 0.233979892 | 2013 | WDHD1 | 14 | 54957612 | C | T |
rs3746444 | 20848167 | 406938 | MIR146A | umls:C0009324 | BeFree | We evaluated the associations of three SNPs (rs11614913, rs2910164, and rs3746444) in pre-miRNAs (miR-196a2, miR-146a, and miR-499) with the risk of ulcerative colitis (UC) in a Japanese population. | 0.000542884 | 2011 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
rs3746444 | 20848167 | 574501 | MIR499A | umls:C0009324 | BeFree | We evaluated the associations of three SNPs (rs11614913, rs2910164, and rs3746444) in pre-miRNAs (miR-196a2, miR-146a, and miR-499) with the risk of ulcerative colitis (UC) in a Japanese population. | 0.000271442 | 2011 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
rs3748067 | 22955700 | 3605 | IL17A | umls:C0009324 | BeFree | Influence of IL17A polymorphisms (rs2275913 and rs3748067) on the susceptibility to ulcerative colitis. | 0.007795869 | 2012 | IL17A | 6 | 52190541 | C | T |
rs376377228 | 18088064 | 149233 | IL23R | umls:C0009324 | BeFree | Given the association of IL23R with inflammatory bowel disease (IBD), we characterized the role of IL-17F in IBD including its intestinal gene expression and the effect of the IL17F p.His161Arg polymorphism on disease susceptibility and phenotype of Crohn's disease (CD) and ulcerative colitis (UC). | 0.326936272 | 2008 | IL23R | 1 | 67182950 | A | G |
rs3764147 | 23974994 | 144811 | LACC1 | umls:C0009324 | BeFree | SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC. | 0.002638474 | 2014 | LACC1 | 13 | 43883789 | A | G |
rs3764147 | 23974994 | 26191 | PTPN22 | umls:C0009324 | BeFree | SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC. | 0.009001189 | 2014 | LACC1 | 13 | 43883789 | A | G |
rs3774959 | 23128233 | 4790 | NFKB1 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.1312586 | 2012 | NFKB1 | 4 | 102589957 | G | A |
rs3789243 | 17828778 | 5243 | ABCB1 | umls:C0009324 | BeFree | In patients with extensive UC a significantly different distribution of genotypes of the MDR1 G/A change located in intron 3 (rs3789243) was observed between carriers/noncarriers of the -25385T risk allele (P = 0.005). | 0.054051573 | 2007 | ABCB1 | 7 | 87591570 | A | G |
rs3804099 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3804099 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | TLR2 | 4 | 153703504 | T | C |
rs3806308 | 19122664 | 54546 | RNF186 | umls:C0009324 | GWASCAT | Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. | 0.12973957 | 2009 | RNF186 | 1 | 19816373 | C | T |
rs3806308 | 19122664 | 54546 | RNF186 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.12973957 | 2009 | RNF186 | 1 | 19816373 | C | T |
rs386493716 | 22193858 | 401637 | OR7E26P | umls:C0009324 | BeFree | The frequency of genotype Arg399Gln (heterozygous) of XRCC1 gene was significantly higher in patients with UC than the controls (odds ratio [OR] 1.73; 95% confidence interval [CI] 1.13-2.64; p = 0.01). | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
rs386493716 | 21234761 | 2950 | GSTP1 | umls:C0009324 | BeFree | XRCC1 Arg399Gln and GSTP1 Ile104Val polymorphisms may influence the CIHM status in the rectal mucosa of UC patients and may be substantially involved in UC-associated carcinogenesis. | 0.003181358 | 2011 | NA | NA | NA | NA | NA |
rs386513644 | 20195480 | 1268 | CNR1 | umls:C0009324 | BeFree | The CNR1 p.Thr453Thr polymorphism appears to modulate UC susceptibility and the CD phenotype. | 0.002638474 | 2010 | NA | NA | NA | NA | NA |
rs386513644 | 20195480 | 56144 | PCDHA4 | umls:C0009324 | BeFree | The cannabinoid 1 receptor (CNR1) 1359 G/A polymorphism modulates susceptibility to ulcerative colitis and the phenotype in Crohn's disease. | 0.000271442 | 2010 | NA | NA | NA | NA | NA |
rs3939286 | 23634226 | 90865 | IL33 | umls:C0009324 | BeFree | Upon genotype-phenotype evaluation, an increased frequency of extensive colitis in adult UC (P = 0.019) and in steroid-responsive pediatric patients (P = 0.024) carrying the IL-33 rs3939286 risk genotype, was observed. | 0.001628651 | 2013 | NA | 9 | 6210099 | T | C |
rs4077515 | 20228799 | 64170 | CARD9 | umls:C0009324 | GWASCAT | Genome-wide association identifies multiple ulcerative colitis susceptibility loci. | 0.250282454 | 2010 | CARD9 | 9 | 136372044 | C | T |
rs4077515 | 20228799 | 64170 | CARD9 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.250282454 | 2010 | CARD9 | 9 | 136372044 | C | T |
rs4149570 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4149570 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | TNFRSF1A | 12 | 6342424 | A | C |
rs4151657 | 24837172 | 629 | CFB | umls:C0009324 | GWASCAT | Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. | 0.120271442 | 2015 | CFB | 6 | 31949763 | T | C |
rs4246905 | 21297633 | 9966 | TNFSF15 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.259445464 | 2011 | TNFSF15 | 9 | 114790969 | T | C |
rs4246905 | 21297633 | 9966 | TNFSF15 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.259445464 | 2011 | TNFSF15 | 9 | 114790969 | T | C |
rs4251961 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4251961 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | IL1RN | 2 | 113116890 | T | C |
rs4358188 | 21272798 | 671 | BPI | umls:C0009324 | BeFree | Our study is the first one reporting a novel association between BPI gene mutation (Lys216Glu) and UC. | 0.006091273 | 2011 | BPI;LOC105372612 | 20 | 38318446 | G | A |
rs4510766 | 21297633 | 1811 | SLC26A3 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.132106602 | 2011 | NA | 7 | 107852344 | A | G |
rs4537545 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4537545 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | IL6R | 1 | 154446403 | C | T |
rs4553808 | 20445568 | 1493 | CTLA4 | umls:C0009324 | BeFree | CTLA4 gene -1661A/G and long 3' untranslated region (AT)n repeat polymorphisms are associated with UC in Central China. | 0.031204679 | 2010 | CTLA4 | 2 | 203866282 | A | G |
rs4598195 | 19122664 | 1738 | DLD | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.004734064 | 2009 | LOC105375444 | 7 | 107862996 | A | C |
rs4598195 | 20228799 | 1738 | DLD | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.004734064 | 2010 | LOC105375444 | 7 | 107862996 | A | C |
rs4598195 | 19122664 | 1811 | SLC26A3 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.132106602 | 2009 | LOC105375444 | 7 | 107862996 | A | C |
rs4598195 | 20228799 | 1811 | SLC26A3 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.132106602 | 2010 | LOC105375444 | 7 | 107862996 | A | C |
rs4598195 | 20228799 | 3912 | LAMB1 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.12764398 | 2010 | LOC105375444 | 7 | 107862996 | A | C |
rs4598195 | 19122664 | 3912 | LAMB1 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.12764398 | 2009 | LOC105375444 | 7 | 107862996 | A | C |
rs4654925 | 20228798 | 23252 | OTUD3 | umls:C0009324 | GWASCAT | Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). | 0.129468128 | 2010 | OTUD3 | 1 | 19901230 | G | C,T |
rs4654925 | 20228798 | 23252 | OTUD3 | umls:C0009324 | GAD | [Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).] | 0.129468128 | 2010 | OTUD3 | 1 | 19901230 | G | C,T |
rs4663396 | 22457781 | 55054 | ATG16L1 | umls:C0009324 | BeFree | Epistasis analysis showed weak epistasis between the ATG16L1 SNP rs2241879 and PTPN2 SNP rs2542151 (p = 0.024) in CD and between ATG16L1 SNP rs4663396 and PTPN2 SNP rs7234029 (p = 4.68×10⁻³) in UC. | 0.03283333 | 2012 | ATG16L1 | 2 | 233283605 | C | T |
rs4676406 | 21297633 | 2859 | GPR35 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.002638474 | 2011 | NA | 2 | 240639691 | G | T |
rs4696480 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4696480 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | TLR2 | 4 | 153685974 | T | A |
rs4728142 | 22685416 | 22915 | MMRN1 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | NA | 7 | 128933913 | G | A |
rs4728142 | 22685416 | 6579 | SLCO1A2 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | NA | 7 | 128933913 | G | A |
rs4728142 | 22685416 | 3663 | IRF5 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.121357209 | 2012 | NA | 7 | 128933913 | G | A |
rs4728142 | 21297633 | 375616 | KCP | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.002367032 | 2011 | NA | 7 | 128933913 | G | A |
rs4730273 | 19122664 | 1811 | SLC26A3 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.132106602 | 2009 | NA | 7 | 107839074 | C | A |
rs4730276 | 19122664 | 1811 | SLC26A3 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.132106602 | 2009 | NA | 7 | 107843992 | G | A |
rs4730276 | 19122664 | 3912 | LAMB1 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.12764398 | 2009 | NA | 7 | 107843992 | G | A |
rs4730276 | 19122664 | 1738 | DLD | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.004734064 | 2009 | NA | 7 | 107843992 | G | A |
rs4781011 | 20228799 | 4261 | CIITA | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.002367032 | 2010 | CIITA;LOC105371080 | 16 | 10881454 | T | G |
rs4819388 | 22592522 | 9844 | ELMO1 | umls:C0009324 | BeFree | In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. | 0.000271442 | 2012 | ICOSLG | 21 | 44227538 | T | C |
rs4819388 | 22592522 | 102723996 | LOC102723996 | umls:C0009324 | BeFree | In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. | 0.000542884 | 2012 | ICOSLG | 21 | 44227538 | T | C |
rs4819388 | 22592522 | 117289 | TAGAP | umls:C0009324 | BeFree | In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. | 0.000271442 | 2012 | ICOSLG | 21 | 44227538 | T | C |
rs483905 | 23128233 | 84441 | MAML2 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | MAML2 | 11 | 96290263 | G | A |
rs4848306 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | NA | 2 | 112840530 | G | A |
rs4848306 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | NA | 2 | 112840530 | G | A |
rs4957048 | 20228799 | 11076 | TPPP | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.002367032 | 2010 | NA | 5 | 583327 | G | A |
rs4957048 | 20228799 | 6550 | SLC9A3 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.005276948 | 2010 | NA | 5 | 583327 | G | A |
rs4957048 | 20228799 | 55722 | CEP72 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.002367032 | 2010 | NA | 5 | 583327 | G | A |
rs4958847 | 19491842 | 55054 | ATG16L1 | umls:C0009324 | BeFree | In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorphisms as important markers for CD susceptibility and indicate that these variants are also associated with UC. | 0.03283333 | 2009 | IRGM | 5 | 150860025 | G | A |
rs4958847 | 19491842 | 345611 | IRGM | umls:C0009324 | BeFree | In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorphisms as important markers for CD susceptibility and indicate that these variants are also associated with UC. | 0.123995683 | 2009 | IRGM | 5 | 150860025 | G | A |
rs4958847 | 19098858 | 8792 | TNFRSF11A | umls:C0009324 | BeFree | Allele and genotype frequencies of rs1000113 and rs4958847 were determined in 823 CD (265 younger than 19 years at diagnosis), 353 ulcerative colitis (UC) (130 younger than 19 years at diagnosis), and 578 controls. | 0.000271442 | 2009 | IRGM | 5 | 150860025 | G | A |
rs4986790 | 17850411 | 7099 | TLR4 | umls:C0009324 | BeFree | The TLR4 Asp299Gly and Thr399Ile polymorphisms were genotyped and tested for case-control frequency differences in a New Zealand white cohort of 389 Crohn's disease (CD) patients, 405 ulcerative colitis (UC) patients, and 416 population controls. | 0.034352361 | 2007 | TLR4 | 9 | 117713024 | A | G |
rs4986790 | 20093834 | 7099 | TLR4 | umls:C0009324 | BeFree | The Toll-like receptor 4 D299G and T399I polymorphisms are associated with Crohn's disease and ulcerative colitis: a meta-analysis. | 0.034352361 | 2010 | TLR4 | 9 | 117713024 | A | G |
rs4986790 | 15194649 | 7099 | TLR4 | umls:C0009324 | BeFree | We have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC. | 0.034352361 | 2004 | TLR4 | 9 | 117713024 | A | G |
rs4986790 | 23470644 | 7099 | TLR4 | umls:C0009324 | BeFree | TLR4 D299G polymorphism modulates cytokine expression in ulcerative colitis. | 0.034352361 | 2014 | TLR4 | 9 | 117713024 | A | G |
rs4986790 | 22918682 | 7099 | TLR4 | umls:C0009324 | BeFree | The presence of TLR-4 Asp299Gly and TLR-4 Thr399Ile polymorphisms is related to UC pancolitis, involvement of the colon in CD, and lower ACCA IgA levels. | 0.034352361 | 2013 | TLR4 | 9 | 117713024 | A | G |
rs4986790 | 23239925 | 7099 | TLR4 | umls:C0009324 | BeFree | Overall, no heterozygous or homozygous single nucleotide polymorphism mutations were found in patients with Crohn's disease and ulcerative colitis both in the TLR4 gene Asp299Gly, Thr399Ile and the TLR2 gene Arg677Trp, Arg753Gln in the Zhuang population from the Guangxi Zhuang Autonomous Region of China. | 0.034352361 | 2012 | TLR4 | 9 | 117713024 | A | G |
rs4986790 | 18680223 | 7099 | TLR4 | umls:C0009324 | BeFree | To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. | 0.034352361 | 2008 | TLR4 | 9 | 117713024 | A | G |
rs4986791 | 17850411 | 7099 | TLR4 | umls:C0009324 | BeFree | The TLR4 Asp299Gly and Thr399Ile polymorphisms were genotyped and tested for case-control frequency differences in a New Zealand white cohort of 389 Crohn's disease (CD) patients, 405 ulcerative colitis (UC) patients, and 416 population controls. | 0.034352361 | 2007 | TLR4 | 9 | 117713324 | C | T |
rs4986791 | 20093834 | 7099 | TLR4 | umls:C0009324 | BeFree | The Toll-like receptor 4 D299G and T399I polymorphisms are associated with Crohn's disease and ulcerative colitis: a meta-analysis. | 0.034352361 | 2010 | TLR4 | 9 | 117713324 | C | T |
rs4986791 | 23239925 | 7099 | TLR4 | umls:C0009324 | BeFree | Overall, no heterozygous or homozygous single nucleotide polymorphism mutations were found in patients with Crohn's disease and ulcerative colitis both in the TLR4 gene Asp299Gly, Thr399Ile and the TLR2 gene Arg677Trp, Arg753Gln in the Zhuang population from the Guangxi Zhuang Autonomous Region of China. | 0.034352361 | 2012 | TLR4 | 9 | 117713324 | C | T |
rs4986791 | 22918682 | 7099 | TLR4 | umls:C0009324 | BeFree | The presence of TLR-4 Asp299Gly and TLR-4 Thr399Ile polymorphisms is related to UC pancolitis, involvement of the colon in CD, and lower ACCA IgA levels. | 0.034352361 | 2013 | TLR4 | 9 | 117713324 | C | T |
rs4986791 | 18680223 | 7099 | TLR4 | umls:C0009324 | BeFree | To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. | 0.034352361 | 2008 | TLR4 | 9 | 117713324 | C | T |
rs5030728 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5030728 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | TLR4 | 9 | 117712004 | G | A |
rs5743708 | 19303021 | 7033 | TFF3 | umls:C0009324 | BeFree | The relevance of the observed functional effect of TLR2 in regulating GC is confirmed by the finding that the UC-associated TLR2-R753Q variant is functionally deficient in the ability to induce TFF3 synthesis, thus leading to impaired wound healing. | 0.000814326 | 2009 | TLR2 | 4 | 153705165 | G | A |
rs5743708 | 19303021 | 7097 | TLR2 | umls:C0009324 | BeFree | The relevance of the observed functional effect of TLR2 in regulating GC is confirmed by the finding that the UC-associated TLR2-R753Q variant is functionally deficient in the ability to induce TFF3 synthesis, thus leading to impaired wound healing. | 0.011996981 | 2009 | TLR2 | 4 | 153705165 | G | A |
rs5743810 | 16374251 | 10333 | TLR6 | umls:C0009324 | BeFree | There was a negative association between TLR6 S249P and ulcerative colitis with proctitis only (P = .026, OR [95% CI] 0.223 [0.096-0.705]). | 0.002638474 | 2006 | TLR6 | 4 | 38828729 | A | G |
rs5743836 | 19455129 | 9231 | DLG5 | umls:C0009324 | BeFree | The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) in TLR9, the main CD-associated variants within the genes for NOD2, IL23R, ATG16L1, and variants in the IBD5 locus and in the DLG5 gene were assessed in 956 patients with IBD (606 CD and 350 ulcerative colitis) and in 792 healthy controls. | 0.007177041 | 2009 | TLR9 | 3 | 52226766 | A | G |
rs5743836 | 19455129 | 50941 | IBD5 | umls:C0009324 | BeFree | The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) in TLR9, the main CD-associated variants within the genes for NOD2, IL23R, ATG16L1, and variants in the IBD5 locus and in the DLG5 gene were assessed in 956 patients with IBD (606 CD and 350 ulcerative colitis) and in 792 healthy controls. | 0.019912403 | 2009 | TLR9 | 3 | 52226766 | A | G |
rs5771069 | 21297633 | 400935 | IL17REL | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.245005506 | 2011 | IL17REL | 22 | 49997051 | A | G |
rs5771069 | 20228798 | 400935 | IL17REL | umls:C0009324 | GAD | [Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).] | 0.245005506 | 2010 | IL17REL | 22 | 49997051 | A | G |
rs5771069 | 21297633 | 400935 | IL17REL | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.245005506 | 2011 | IL17REL | 22 | 49997051 | A | G |
rs5771069 | 20228798 | 400935 | IL17REL | umls:C0009324 | GWASCAT | Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). | 0.245005506 | 2010 | IL17REL | 22 | 49997051 | A | G |
rs6017342 | 19915572 | 3172 | HNF4A | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.126362715 | 2009 | NA | 20 | 44436388 | A | C |
rs6017342 | 21297633 | 3172 | HNF4A | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.126362715 | 2011 | NA | 20 | 44436388 | A | C |
rs6088765 | 23128233 | 10544 | PROCR | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | PROCR | 20 | 35211477 | T | G |
rs6426833 | 19915572 | 54546 | RNF186 | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.12973957 | 2009 | NA | 1 | 19845367 | G | A |
rs6426833 | 19915572 | 23252 | OTUD3 | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.129468128 | 2009 | NA | 1 | 19845367 | G | A |
rs6426833 | 19122664 | 54546 | RNF186 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.12973957 | 2009 | NA | 1 | 19845367 | G | A |
rs6426833 | 20228799 | 30814 | PLA2G2E | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.007101096 | 2010 | NA | 1 | 19845367 | G | A |
rs6426833 | 21297633 | 54546 | RNF186 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.12973957 | 2011 | NA | 1 | 19845367 | G | A |
rs6426833 | 19122664 | 23252 | OTUD3 | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.129468128 | 2009 | NA | 1 | 19845367 | G | A |
rs6426833 | 20228799 | 23252 | OTUD3 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.129468128 | 2010 | NA | 1 | 19845367 | G | A |
rs6426833 | 19915572 | 30814 | PLA2G2E | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.007101096 | 2009 | NA | 1 | 19845367 | G | A |
rs6426833 | 20228799 | 54546 | RNF186 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.12973957 | 2010 | NA | 1 | 19845367 | G | A |
rs6426833 | 19122664 | 30814 | PLA2G2E | umls:C0009324 | GAD | [Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.] | 0.007101096 | 2009 | NA | 1 | 19845367 | G | A |
rs6451493 | 21297633 | 1601 | DAB2 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.002367032 | 2011 | NA | 5 | 40410833 | G | T |
rs6532197 | 22685416 | 6579 | SLCO1A2 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | NA | 4 | 89876150 | A | G |
rs6532197 | 22685416 | 3663 | IRF5 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.121357209 | 2012 | NA | 4 | 89876150 | A | G |
rs6532197 | 22685416 | 22915 | MMRN1 | umls:C0009324 | BeFree | We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. | 0.000271442 | 2012 | NA | 4 | 89876150 | A | G |
rs6569648 | 24911414 | 60498 | IGAN1 | umls:C0009324 | BeFree | These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). | 0.000271442 | 2014 | L3MBTL3 | 6 | 130027974 | C | T |
rs6584283 | 19915572 | 2805 | GOT1 | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.007101096 | 2009 | LINC01475 | 10 | 99530544 | T | C |
rs6584283 | 19915572 | 101927324 | LINC01475 | umls:C0009324 | GWASCAT | Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. | 0.12 | 2009 | LINC01475 | 10 | 99530544 | T | C |
rs6584283 | 21297633 | 101927324 | LINC01475 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.12 | 2011 | LINC01475 | 10 | 99530544 | T | C |
rs6584283 | 21297633 | 2805 | GOT1 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.007101096 | 2011 | LINC01475 | 10 | 99530544 | T | C |
rs6584283 | 20228798 | 2805 | GOT1 | umls:C0009324 | GAD | [Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).] | 0.007101096 | 2010 | LINC01475 | 10 | 99530544 | T | C |
rs6596473 | 24284447 | 27034 | ACAD8 | umls:C0009324 | BeFree | Genomic DNA samples from patients with CD (n = 162) and UC (n = 149) from the Manitoba IBD Cohort Study and ethnically matched controls (n = 142) were genotyped for 3 SLC23A1 polymorphisms (rs6596473, rs33972313, and rs10063949) by using TaqMan assays. | 0.010043349 | 2014 | SLC23A1 | 5 | 139374887 | G | C |
rs6596473 | 24284447 | 9963 | SLC23A1 | umls:C0009324 | BeFree | A strong linkage disequilibrium (LD) was observed across the SLC23A1 region (variation rs6596473 with rs10063949) for CD and UC (D' = 0.94 and 0.96, respectively). | 0.000271442 | 2014 | SLC23A1 | 5 | 139374887 | G | C |
rs678170 | 21297633 | 120400 | NXPE1 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.122367032 | 2011 | NXPE1 | 11 | 114561234 | A | G |
rs678170 | 21297633 | 120400 | NXPE1 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.122367032 | 2011 | NXPE1 | 11 | 114561234 | A | G |
rs6785049 | 21245992 | 8856 | NR1I2 | umls:C0009324 | BeFree | PXR A7635G (rs6785049) variant genotype was associated with a higher risk of UC diagnosis before the age of 40 years and with a higher risk of extensive disease (OR: 1.34, 95% CI: 1.03-1.75 and OR: 2.49, 95% CI: 1.24-5.03, respectively). | 0.010258709 | 2011 | NR1I2 | 3 | 119814886 | G | A |
rs6871626 | 21297633 | 3593 | IL12B | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.134092571 | 2011 | NA | 5 | 159399784 | C | A |
rs6887695 | 25761185 | 3593 | IL12B | umls:C0009324 | BeFree | Our genetic association study revealed that the polymorphisms of IL12B rs6887695 were associated with both CD and ulcerative colitis (UC) susceptibility in Chinese population, but did not affect the serum IL12p40 level in either CD patients or UC patients. | 0.134092571 | 2015 | NA | 5 | 159395637 | G | C |
rs6887695 | 22479607 | 3593 | IL12B | umls:C0009324 | BeFree | Our analysis revealed an association of the IL12B SNP rs6887695 with susceptibility to IBD (p = 0.035; OR 1.15 [95% CI 1.01-1.31] including a trend for rs6887695 for association with CD (OR 1.41; [0.99-1.31], p = 0.066) and UC (OR 1.18 [0.97-1.43], p = 0.092). | 0.134092571 | 2012 | NA | 5 | 159395637 | G | C |
rs6908425 | 19174780 | 54901 | CDKAL1 | umls:C0009324 | GAD | [Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.] | 0.005005506 | 2009 | CDKAL1 | 6 | 20728500 | T | C |
rs6920220 | 21297633 | 167826 | OLIG3 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.002367032 | 2011 | NA | 6 | 137685367 | G | A |
rs6927022 | 23128233 | 3117 | HLA-DQA1 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.124734064 | 2012 | HLA-DQA1 | 6 | 32644620 | A | G |
rs6927172 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | NA | 6 | 137681038 | C | G |
rs6927172 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | NA | 6 | 137681038 | C | G |
rs696 | 24971461 | 3586 | IL10 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.294635894 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 7097 | TLR2 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.011996981 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 7124 | TNF | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.18707607 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 149233 | IL23R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.326936272 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.007915422 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 4790 | NFKB1 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.1312586 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 7099 | TLR4 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.034352361 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 23643 | LY96 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000542884 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 5468 | PPARG | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.012897183 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 26191 | PTPN22 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.009001189 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 54106 | TLR9 | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.008729747 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 3570 | IL6R | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.000271442 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs696 | 24971461 | 4792 | NFKBIA | umls:C0009324 | BeFree | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. | 0.001085767 | 2014 | NFKBIA | 14 | 35401887 | C | T |
rs6974491 | 22592522 | 7332 | UBE2L3 | umls:C0009324 | BeFree | In the subphenotype analysis, rs6974491-ELMO1 (P=0.0002, odds ratio (OR): 2.20) and rs2298428-UBE2L3 (P=5.44 × 10(-5), OR: 2.59) associated with pediatric UC and CD, respectively. | 0.000542884 | 2012 | ELMO1 | 7 | 37334906 | G | A |
rs6974491 | 22592522 | 102723996 | LOC102723996 | umls:C0009324 | BeFree | In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. | 0.000542884 | 2012 | ELMO1 | 7 | 37334906 | G | A |
rs6974491 | 22592522 | 9844 | ELMO1 | umls:C0009324 | BeFree | In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. | 0.000271442 | 2012 | ELMO1 | 7 | 37334906 | G | A |
rs6974491 | 22592522 | 117289 | TAGAP | umls:C0009324 | BeFree | In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. | 0.000271442 | 2012 | ELMO1 | 7 | 37334906 | G | A |
rs713875 | 24911414 | 60498 | IGAN1 | umls:C0009324 | BeFree | These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). | 0.000271442 | 2014 | HORMAD2;LOC105372988 | 22 | 30196498 | C | G |
rs7210086 | 23128233 | 201266 | SLC39A11 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | SLC39A11 | 17 | 72645559 | A | C |
rs7222094 | 24776844 | 3458 | IFNG | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011530042 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 3605 | IL17A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007795869 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 23643 | LY96 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000542884 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 3557 | IL1RN | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.033452159 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 54106 | TLR9 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.008729747 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 9020 | MAP3K14 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.000271442 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 7132 | TNFRSF1A | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.007915422 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 4790 | NFKB1 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.1312586 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 3553 | IL1B | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.144069907 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 4695 | NDUFA2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.003528744 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 7128 | TNFAIP3 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.002909916 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 7099 | TLR4 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.034352361 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 7124 | TNF | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.18707607 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 3569 | IL6 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.009510397 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7222094 | 24776844 | 7097 | TLR2 | umls:C0009324 | BeFree | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05). | 0.011996981 | 2014 | MAP3K14 | 17 | 45290287 | T | C |
rs7234029 | 22457781 | 55054 | ATG16L1 | umls:C0009324 | BeFree | Epistasis analysis showed weak epistasis between the ATG16L1 SNP rs2241879 and PTPN2 SNP rs2542151 (p = 0.024) in CD and between ATG16L1 SNP rs4663396 and PTPN2 SNP rs7234029 (p = 4.68×10⁻³) in UC. | 0.03283333 | 2012 | PTPN2 | 18 | 12877061 | A | G |
rs734999 | 21297633 | 100996583 | LOC100996583 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.12 | 2011 | LOC100996583 | 1 | 2581777 | C | T |
rs734999 | 21297633 | 8764 | TNFRSF14 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.002367032 | 2011 | LOC100996583 | 1 | 2581777 | C | T |
rs744166 | 22269120 | 9034 | CCRL2 | umls:C0009324 | BeFree | Here, we studied the susceptibility nature of three components of IL23 signalling and Th17 cell differentiation: JAK2 rs10758669, STAT3 rs744166 and CCR6 rs2301436 initially associated with CD in Hungarian CD and UC patients. | 0.001085767 | 2012 | STAT3 | 17 | 42362183 | A | G |
rs744166 | 25286337 | 6774 | STAT3 | umls:C0009324 | BeFree | Associations between STAT3 rs744166 polymorphisms and susceptibility to ulcerative colitis and Crohn's disease: a meta-analysis. | 0.135254284 | 2014 | STAT3 | 17 | 42362183 | A | G |
rs744166 | 22065112 | 6774 | STAT3 | umls:C0009324 | BeFree | Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, 95% CI = 1.04-1.50) and STAT3 rs744166 (p = 0.04, OR = 0.83, 95% CI = 0.688-0.998) with CD, but not UC. | 0.135254284 | 2012 | STAT3 | 17 | 42362183 | A | G |
rs744166 | 22065112 | 3717 | JAK2 | umls:C0009324 | BeFree | Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, 95% CI = 1.04-1.50) and STAT3 rs744166 (p = 0.04, OR = 0.83, 95% CI = 0.688-0.998) with CD, but not UC. | 0.131368221 | 2012 | STAT3 | 17 | 42362183 | A | G |
rs74825699 | 21245992 | 4790 | NFKB1 | umls:C0009324 | BeFree | Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-activated receptor (PPAR)-γ (PPARγ) PPARγ Pro12Ala (rs 1801282) and C1431T (rs 3856806); pregnane X receptor (PXR) (NR1I2) PXR A-24381C (rs1523127), C8055T (2276707), and A7635G (rs 6785049); and liver X receptor (LXR) (NR1H2) LXR T-rs1405655-C and T-rs2695121-C were assessed in a Danish case-control study of 327 Crohn's disease patients, 495 ulcerative colitis (UC) patients, and 779 healthy controls. | 0.1312586 | 2011 | NR1I2 | 3 | 119783118 | G | A |
rs74825699 | 21245992 | 8856 | NR1I2 | umls:C0009324 | BeFree | PXR A7635G (rs6785049) variant genotype was associated with a higher risk of UC diagnosis before the age of 40 years and with a higher risk of extensive disease (OR: 1.34, 95% CI: 1.03-1.75 and OR: 2.49, 95% CI: 1.24-5.03, respectively). | 0.010258709 | 2011 | NR1I2 | 3 | 119783118 | G | A |
rs7517847 | 22735800 | 149233 | IL23R | umls:C0009324 | BeFree | IL-23 receptor gene rs7517847 and rs1004819 SNPs in ulcerative colitis. | 0.326936272 | 2014 | IL23R | 1 | 67215986 | T | G |
rs7517847 | 18383521 | 149233 | IL23R | umls:C0009324 | BeFree | The data show an association of both IL23R SNPs with overall IBD (statistically stronger, rs7517847; odds ratio [OR] = 0.79, 95% confidence interval [CI]: 0.67-0.94, minor allele frequencies: 0.355 in IBD patients versus 0.410 in controls; P = 0.005), somewhat stronger in Crohn's disease (OR = 0.74, 95% CI: 0.61-0.91) than in ulcerative colitis (OR = 0.84, 95% CI: 0.69-1.03). | 0.326936272 | 2008 | IL23R | 1 | 67215986 | T | G |
rs7524102 | 21297633 | 54361 | WNT4 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.004734064 | 2011 | NA | 1 | 22371954 | A | G |
rs7524102 | 19915572 | 54361 | WNT4 | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.004734064 | 2009 | NA | 1 | 22371954 | A | G |
rs7528684 | 17389014 | 64127 | NOD2 | umls:C0009324 | BeFree | Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G, rs7528684 and -110C>T, rs11264799) in patients with IBD and their interaction with HLA-DRB1 and CARD15 in patients with UC and CD, respectively. | 0.233979892 | 2007 | FCRL3 | 1 | 157701026 | A | G |
rs7530511 | 24611330 | 149233 | IL23R | umls:C0009324 | BeFree | The aim of this study was to determine whether the specific rs11209026 and rs7530511 single-nucleotide polymorphisms in the Interleukin-23 receptor gene are associated with Crohn's disease and ulcerative colitis in a Croatian patient population. | 0.326936272 | 2014 | IL23R | 1 | 67219704 | T | C |
rs7530511 | 19294505 | 149233 | IL23R | umls:C0009324 | BeFree | The results suggest that IL23R R381Q confers protection against CD and that L310P confers protection against UC in females. | 0.326936272 | 2010 | IL23R | 1 | 67219704 | T | C |
rs7530511 | 25159710 | 149233 | IL23R | umls:C0009324 | BeFree | We found that IL23R (L310P) variant conferred a protective effect for crohn's disease (CD) but not ulcerative colitis (UC) patients. | 0.326936272 | 2014 | IL23R | 1 | 67219704 | T | C |
rs7554511 | 21297633 | 55765 | C1orf106 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.124734064 | 2011 | C1orf106 | 1 | 200908434 | C | A |
rs7554511 | 19915572 | 55765 | C1orf106 | umls:C0009324 | GWASCAT | Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. | 0.124734064 | 2009 | C1orf106 | 1 | 200908434 | C | A |
rs7554511 | 21297633 | 55765 | C1orf106 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.124734064 | 2011 | C1orf106 | 1 | 200908434 | C | A |
rs7554511 | 19915572 | 55765 | C1orf106 | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.124734064 | 2009 | C1orf106 | 1 | 200908434 | C | A |
rs7554511 | 19915572 | 23046 | KIF21B | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.122367032 | 2009 | C1orf106 | 1 | 200908434 | C | A |
rs7568275 | 20454450 | 6775 | STAT4 | umls:C0009324 | BeFree | Genomic DNA from 2704 individuals of Caucasian origin including 857 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1383 healthy, unrelated controls was analyzed for seven SNPs in the STAT4 gene (rs11889341, rs7574865, rs7568275, rs8179673, rs10181656, rs7582694, rs10174238). | 0.006362715 | 2010 | STAT4 | 2 | 191101726 | G | C |
rs7574865 | 18759272 | 6775 | STAT4 | umls:C0009324 | BeFree | The association of STAT4 polymorphism rs7574865 with RA was validated in patients of Spanish origin (for T versus G, P = 1.2 x 10(-6), odds ratio [OR] 1.59, 95% confidence interval [95% CI] 1.31-1.92), and the association was described for the first time in both clinical forms of inflammatory bowel disease, Crohn's disease and ulcerative colitis (for T versus G, P = 0.006, OR 1.29, 95% CI 1.07-1.55), and in type 1 diabetes mellitus (for T versus G, P = 0.008, OR 1.36, 95% CI 1.07-1.71). | 0.006362715 | 2008 | STAT4 | 2 | 191099907 | T | G |
rs7574865 | 20454450 | 6775 | STAT4 | umls:C0009324 | BeFree | Genomic DNA from 2704 individuals of Caucasian origin including 857 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1383 healthy, unrelated controls was analyzed for seven SNPs in the STAT4 gene (rs11889341, rs7574865, rs7568275, rs8179673, rs10181656, rs7582694, rs10174238). | 0.006362715 | 2010 | STAT4 | 2 | 191099907 | T | G |
rs7582694 | 20454450 | 6775 | STAT4 | umls:C0009324 | BeFree | Genomic DNA from 2704 individuals of Caucasian origin including 857 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1383 healthy, unrelated controls was analyzed for seven SNPs in the STAT4 gene (rs11889341, rs7574865, rs7568275, rs8179673, rs10181656, rs7582694, rs10174238). | 0.006362715 | 2010 | STAT4 | 2 | 191105394 | C | G |
rs7608910 | 21297633 | 150962 | PUS10 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.127101096 | 2011 | PUS10 | 2 | 60977721 | A | G |
rs7608910 | 21297633 | 150962 | PUS10 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.127101096 | 2011 | PUS10 | 2 | 60977721 | A | G |
rs763780 | 23652560 | 112744 | IL17F | umls:C0009324 | BeFree | The IL17F (rs763780, 7488T/C) variant was associated with an increased risk for the development of CD, and affected some clinical features of UC and CD. | 0.003724241 | 2013 | IL17F;LOC105375088 | 6 | 52236941 | T | C |
rs763780 | 18088064 | 149233 | IL23R | umls:C0009324 | BeFree | Given the association of IL23R with inflammatory bowel disease (IBD), we characterized the role of IL-17F in IBD including its intestinal gene expression and the effect of the IL17F p.His161Arg polymorphism on disease susceptibility and phenotype of Crohn's disease (CD) and ulcerative colitis (UC). | 0.326936272 | 2008 | IL17F;LOC105375088 | 6 | 52236941 | T | C |
rs7744 | 24189845 | 4615 | MYD88 | umls:C0009324 | BeFree | The *1244 A>G polymorphism of MyD88 (rs7744) is closely associated with susceptibility to ulcerative colitis. | 0.000814326 | 2013 | MYD88 | 3 | 38142530 | A | G |
rs7809799 | 20228798 | 57154 | SMURF1 | umls:C0009324 | GAD | [Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).] | 0.002367032 | 2010 | NA | 7 | 99162881 | G | A |
rs798502 | 21297633 | 2768 | GNA12 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.242638474 | 2011 | GNA12;AMZ1 | 7 | 2750246 | A | C |
rs798502 | 23128233 | 2768 | GNA12 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.242638474 | 2012 | GNA12;AMZ1 | 7 | 2750246 | A | C |
rs798502 | 21297633 | 2768 | GNA12 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.242638474 | 2011 | GNA12;AMZ1 | 7 | 2750246 | A | C |
rs8067378 | 20228799 | 124626 | ZPBP2 | umls:C0009324 | GAD | [Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] | 0.004734064 | 2010 | NA | 17 | 39895095 | A | G |
rs8179673 | 20454450 | 6775 | STAT4 | umls:C0009324 | BeFree | Genomic DNA from 2704 individuals of Caucasian origin including 857 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1383 healthy, unrelated controls was analyzed for seven SNPs in the STAT4 gene (rs11889341, rs7574865, rs7568275, rs8179673, rs10181656, rs7582694, rs10174238). | 0.006362715 | 2010 | STAT4 | 2 | 191104615 | C | T |
rs886774 | 19915572 | 3912 | LAMB1 | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.12764398 | 2009 | NA | 7 | 107854989 | G | A |
rs886774 | 19915572 | 1811 | SLC26A3 | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.132106602 | 2009 | NA | 7 | 107854989 | G | A |
rs907611 | 21297633 | 4046 | LSP1 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.242367032 | 2011 | LSP1 | 11 | 1852842 | G | A |
rs907611 | 21297633 | 4046 | LSP1 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.242367032 | 2011 | LSP1 | 11 | 1852842 | G | A |
rs917997 | 18439550 | 64127 | NOD2 | umls:C0009324 | BeFree | Joint analysis of 1851 IBD patients (1062 CD, 789 UC) and 1936 controls demonstrated strong association to the IL18RAP rs917997 SNP for both CD and UC (p(IBD) 1.9 x 10(-8); OR 1.35). | 0.233979892 | 2008 | NA | 2 | 102454108 | T | C |
rs925847 | 20176035 | 6775 | STAT4 | umls:C0009324 | BeFree | SNP rs925847 in the STAT4 gene was significantly associated with susceptibility to UC (P=0.025; OR=0.63) in dominant genotype analysis, though none of these SNPs were associated with CD susceptibility. | 0.006362715 | 2010 | STAT4;LOC105373805 | 2 | 191032814 | C | T |
rs9263739 | 19915573 | 54535 | CCHCR1 | umls:C0009324 | GWASCAT | A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. | 0.122367032 | 2009 | CCHCR1 | 6 | 31143579 | C | T |
rs9263739 | 19915573 | 54535 | CCHCR1 | umls:C0009324 | GAD | [A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.] | 0.122367032 | 2009 | CCHCR1 | 6 | 31143579 | C | T |
rs9268480 | 19915573 | 56244 | BTNL2 | umls:C0009324 | GAD | [A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.] | 0.017469426 | 2009 | BTNL2;LOC101929163 | 6 | 32396067 | C | T |
rs9268877 | 18836448 | 3122 | HLA-DRA | umls:C0009324 | GAD | [Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.] | 0.012106602 | 2008 | NA | 6 | 32463370 | A | G |
rs9268877 | 18836448 | 56244 | BTNL2 | umls:C0009324 | GAD | [Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.] | 0.017469426 | 2008 | NA | 6 | 32463370 | A | G |
rs9268923 | 20228798 | 3122 | HLA-DRA | umls:C0009324 | GAD | [Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).] | 0.012106602 | 2010 | NA | 6 | 32465058 | C | T |
rs941823 | 21297633 | 646982 | LINC00598 | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.12 | 2011 | LINC00598 | 13 | 40439840 | T | C |
rs941823 | 21297633 | 57511 | COG6 | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.004734064 | 2011 | LINC00598 | 13 | 40439840 | T | C |
rs943072 | 21297633 | 7422 | VEGFA | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.003452799 | 2011 | NA | 6 | 43828231 | G | T |
rs9548988 | 19915572 | 57511 | COG6 | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.004734064 | 2009 | NA | 13 | 39931373 | C | T |
rs9822268 | 21297633 | 327 | APEH | umls:C0009324 | GWASCAT | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | 0.122367032 | 2011 | APEH | 3 | 49682296 | G | A |
rs9822268 | 21297633 | 327 | APEH | umls:C0009324 | GAD | [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.] | 0.122367032 | 2011 | APEH | 3 | 49682296 | G | A |
rs9847710 | 23128233 | 51460 | SFMBT1 | umls:C0009324 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | SFMBT1;LOC105377135 | 3 | 53028645 | T | C |
rs9858542 | 19915572 | 8927 | BSN | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.122638474 | 2009 | BSN | 3 | 49664550 | G | A |
rs9858542 | 19915572 | 8927 | BSN | umls:C0009324 | GWASCAT | Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. | 0.122638474 | 2009 | BSN | 3 | 49664550 | G | A |
rs9858542 | 19915572 | 4485 | MST1 | umls:C0009324 | GAD | [Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.] | 0.254092571 | 2009 | BSN | 3 | 49664550 | G | A |
rs9858542 | 20024904 | 4485 | MST1 | umls:C0009324 | BeFree | BSN and MST1 were significantly associated with either CD (P(rs9858542) 2.5 x 10(-7); P(rs3197999) 3.9 x 10(-7)), and UC (P(rs9858542) = 3.1 x 10(-4); P(rs3197999) = 8 x 10(-4)). | 0.254092571 | 2010 | BSN | 3 | 49664550 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:212) | |||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
1 | 2501338 | rs10797432 | C | T | rs10797432 | 23128233 | 3.00E-12 | NA | 1.08 | [1.04-1.12] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs10797432-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 2513216 | rs734999 | C | T | rs734999 | 21297633 | 3.00E-09 | NA | 1.05 | [1.01-1.09] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs734999-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 8021973 | rs35675666 | G | T | rs35675666 | 21297633 | 5.00E-09 | NA | 1.08 | [1.02-1.15] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs35675666-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 20140036 | rs1317209 | G | A | rs1317209 | 20228799 | 2.00E-10 | NA | 1.17 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1317209-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
1 | 20142866 | rs3806308 | C | T | rs3806308 | 19122664 | 7.00E-09 | NA | 1.28 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
1 | 20171860 | rs6426833 | G | A | rs6426833 | 19122664 | 5.00E-13 | NA | 1.37 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6426833-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
1 | 20171860 | rs6426833 | G | A | rs6426833 | 19915572 | 2.00E-11 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
1 | 20171860 | rs6426833 | G | A | rs6426833 | 20228799 | 2.00E-21 | NA | 1.3 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6426833-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
1 | 20171860 | rs6426833 | G | A | rs6426833 | 21297633 | 4.00E-35 | NA | 1.3 | [1.25-1.35] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6426833-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 20171860 | rs6426833 | G | A | rs6426833 | 23128233 | 2.00E-68 | NA | 1.27 | [1.22-1.31] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6426833-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 20171860 | rs6426833 | G | A | rs6426833 | 23511034 | 7.22E-08 | NA | 1.53 | [1.31-1.79] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6426833-A | Research Support, Non-U.S. Gov't | Comparative Study | G |
1 | 20200990 | rs4654903 | A | G | rs4654903 | 23511034 | 7.00E-09 | NA | 1.56 | [1.35-1.82] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | Comparative Study | G |
1 | 20227723 | rs4654925 | G | C,T | rs4654925 | 20228798 | 9.00E-22 | NA | 1.41 | [1.30-1.54] | 1,043 German cases; 1,703 German controls | German(2746) | ALL(2746) | EUR(2746) | ALL(2746) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4654925-G | Research Support, Non-U.S. Gov't | G | OTUD3 |
1 | 22698447 | rs7524102 | A | G | rs7524102 | 19915572 | 3.00E-07 | NA | 1.1 | [1.00-1.21] | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs7524102-A | Research Support, Non-U.S. Gov't | G | NA |
1 | 22698447 | rs7524102 | A | G | rs7524102 | 21297633 | 2.00E-13 | NA | 1.1 | [1.05-1.16] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs7524102-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 22702231 | rs12568930 | T | C | rs12568930 | 19915572 | 1.40E-07 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | T | NA |
1 | 67694202 | rs2201841 | A | G | rs2201841 | 20228799 | 1.00E-13 | NA | 1.27 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2201841-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
1 | 67705958 | rs11209026 | G | A | rs11209026 | 19122664 | 1.00E-08 | NA | 1.79 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
1 | 67705958 | rs11209026 | G | A | rs11209026 | 19915572 | 3.00E-10 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | IL23R |
1 | 67705958 | rs11209026 | G | A | rs11209026 | 21297633 | 5.00E-28 | NA | 1.74 | [1.57-1.92] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs11209026-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 67725120 | rs10889677 | C | A | rs10889677 | 19122664 | 1.00E-08 | NA | 1.29 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs10889677-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
1 | 161462728 | rs4657039 | A | G | rs4657039 | 19915573 | 2.20E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | A | NA |
1 | 161463331 | rs7511868 | G | A | rs7511868 | 19915573 | 5.42E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | A | NA |
1 | 161463814 | rs6696854 | T | C | rs6696854 | 19915573 | 3.65E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | T,C | NA |
1 | 161464412 | rs6684851 | C | T | rs6684851 | 19915573 | 3.67E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | C | NA |
1 | 161470505 | rs12139150 | G | C | rs12139150 | 19915573 | 2.81E-06 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
1 | 161472158 | rs10800309 | A | G | rs10800309 | 19915573 | 2.22E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
1 | 161472158 | rs10800309 | A | G | rs10800309 | 20228799 | 3.00E-09 | NA | 1.2 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs10800309-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
1 | 161478810 | rs6671847 | G | A | rs6671847 | 19915573 | 8.50E-09 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | FCGR2A |
1 | 161479745 | rs1801274 | A | G | rs1801274 | 19915573 | 2.00E-12 | NA | 1.59 | [1.39-1.82] | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1801274-G | Research Support, Non-U.S. Gov't | T | FCGR2A |
1 | 161479745 | rs1801274 | A | G | rs1801274 | 21297633 | 2.00E-20 | NA | 1.21 | [1.16-1.26] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1801274-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 161479745 | rs1801274 | A | G | rs1801274 | 23511034 | 2.12E-04 | NA | 1.33 | [1.14-1.54] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1801274-A | Research Support, Non-U.S. Gov't | Comparative Study | T |
1 | 198656407 | rs2359952 | A | G | rs2359952 | 24837172 | 4.00E-07 | NA | 1.31 | [1.13-1.51] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2359952-A | Research Support, Non-U.S. Gov't | G | PTPRC |
1 | 200101920 | rs2816958 | A | G | rs2816958 | 23128233 | 2.00E-17 | NA | 1.23 | [1.16-1.30] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2816958-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 200877562 | rs7554511 | C | A | rs7554511 | 19915572 | 1.00E-06 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | C | C1orf106 |
1 | 200877562 | rs7554511 | C | A | rs7554511 | 21297633 | 2.00E-13 | NA | 1.19 | [1.14-1.25] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs7554511-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 200935866 | rs11584383 | T | C | rs11584383 | 20228799 | 2.00E-07 | NA | 1.27 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs11584383-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
1 | 206939904 | rs3024505 | G | A | rs3024505 | 18836448 | 1.00E-12 | NA | 1.46 | [1.31-1.62] | 1,167 cases; 777 controls | NOPOP(1944) | ALL(1944) | NOPOP(1944) | ALL(1944) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs3024505-T | Research Support, Non-U.S. Gov't | C | NA |
1 | 206939904 | rs3024505 | G | A | rs3024505 | 20228799 | 1.00E-08 | NA | 1.23 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs3024505-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
1 | 206939904 | rs3024505 | G | A | rs3024505 | 21297633 | 6.00E-17 | NA | 1.25 | [1.19-1.32] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs3024505-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
1 | 206943968 | rs3024493 | C | A | rs3024493 | 19915572 | 8.00E-08 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | IL10 |
1 | 206943968 | rs3024493 | C | A | rs3024493 | 20228798 | 1.00E-12 | NA | 1.35 | [1.22-1.50] | 1,043 German cases; 1,703 German controls | German(2746) | ALL(2746) | EUR(2746) | ALL(2746) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs3024493-T | Research Support, Non-U.S. Gov't | G | IL10 |
1 | 206959527 | rs17351243 | G | A | rs17351243 | 19915573 | 8.42E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
1 | 206961628 | rs12075255 | A | G | rs12075255 | 19915573 | 1.87E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
1 | 206962416 | rs885334 | C | T | rs885334 | 19915573 | 1.98E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
1 | 206968893 | rs11583394 | C | T | rs11583394 | 19915573 | 5.60E-06 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | T | NA |
1 | 216789443 | rs6673588 | T | G | rs6673588 | 19915573 | 3.83E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | ESRRG |
2 | 15843840 | rs1862101 | T | C | rs1862101 | 19915573 | 8.11E-06 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | A | NA |
2 | 15856372 | rs6746441 | A | G | rs6746441 | 19915573 | 2.72E-06 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
2 | 15862330 | rs7591368 | C | A | rs7591368 | 19915573 | 6.07E-07 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | C | NA |
2 | 61186829 | rs13003464 | A | G | rs13003464 | 20228799 | 7.00E-09 | NA | 1.13 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs13003464-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
2 | 61204856 | rs7608910 | A | G | rs7608910 | 21297633 | 2.00E-14 | NA | 1.19 | [1.14-1.24] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs7608910-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
2 | 80915734 | rs17019600 | C | A | rs17019600 | 19915572 | 5.10E-05 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | C | NA |
2 | 102663628 | rs2310173 | T | G | rs2310173 | 21297633 | 3.00E-12 | NA | 1.09 | [1.05-1.14] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2310173-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
2 | 102957716 | rs1420101 | C | T | rs1420101 | 24837172 | 6.00E-04 | NA | 1.2 | [1.04-1.39] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1420101-G | Research Support, Non-U.S. Gov't | A | IL1RL1 |
2 | 198265526 | rs788018 | A | G | rs788018 | 24837172 | 7.00E-04 | NA | 1.22 | [1.04-1.43] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs788018-G | Research Support, Non-U.S. Gov't | G | SF3B1 |
2 | 198369370 | rs6434930 | T | C | rs6434930 | 24837172 | 3.00E-04 | NA | 1.22 | [1.05-1.43] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6434930-G | Research Support, Non-U.S. Gov't | C | HSPE1-MOB4 |
2 | 198403697 | rs3792159 | C | T | rs3792159 | 24837172 | 1.00E-04 | NA | 1.23 | [1.06-1.44] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs3792159-A | Research Support, Non-U.S. Gov't | A | MOB4 |
2 | 198881668 | rs1016883 | G | A | rs1016883 | 23128233 | 3.00E-08 | NA | 1.1 | [1.05-1.15] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1016883-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
2 | 199523122 | rs17229285 | C | T | rs17229285 | 23128233 | 2.00E-13 | NA | 1.12 | [1.08-1.16] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs17229285-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
2 | 200290359 | rs1992950 | A | G | rs1992950 | 20228799 | 5.00E-06 | NA | 1.1 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1992950-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
2 | 219010146 | rs11676348 | C | T | rs11676348 | 21297633 | 1.00E-10 | NA | 1.07 | [1.03-1.11] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs11676348-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
2 | 241579108 | rs4676406 | G | T | rs4676406 | 21297633 | 8.00E-11 | NA | 1.14 | [1.09-1.18] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4676406-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
2 | 241597150 | rs6437358 | G | C | rs6437358 | 19915572 | 5.90E-07 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
3 | 49701983 | rs9858542 | G | A | rs9858542 | 19915572 | 7.00E-09 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | BSN |
3 | 49719729 | rs9822268 | G | A | rs9822268 | 21297633 | 2.00E-17 | NA | 1.21 | [1.16-1.26] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs9822268-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
3 | 49721532 | rs3197999 | G | A | rs3197999 | 20228799 | 4.00E-09 | NA | 1.2 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs3197999-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
3 | 53062661 | rs9847710 | T | C | rs9847710 | 23128233 | 1.00E-08 | NA | 1.06 | [1.03-1.10] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs9847710-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
3 | 175806373 | rs9875122 | C | T | rs9875122 | 19915573 | 9.58E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | C | NA |
4 | 103511114 | rs3774959 | G | A | rs3774959 | 23128233 | 4.00E-12 | NA | 1.12 | [1.08-1.16] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs3774959-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
4 | 123329362 | rs17388568 | G | A | rs17388568 | 21297633 | 9.00E-07 | NA | 1.12 | [1.07-1.17] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs17388568-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
4 | 180284814 | rs6811556 | T | C | rs6811556 | 20848476 | 9.00E-06 | Ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | T |
5 | 583442 | rs4957048 | G | A | rs4957048 | 20228799 | 1.00E-09 | NA | 1.3 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4957048-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
5 | 594083 | rs11739663 | T | C | rs11739663 | 21297633 | 3.00E-08 | NA | 1.15 | [1.09-1.21] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs11739663-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
5 | 594083 | rs11739663 | T | C | rs11739663 | 23128233 | 2.00E-08 | NA | 1.07 | [1.03-1.12] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs11739663-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
5 | 10752315 | rs267939 | C | T | rs267939 | 21297633 | 6.00E-12 | NA | 1.1 | [1.06-1.15] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs267939-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
5 | 35876274 | rs3194051 | A | G | rs3194051 | 21297633 | 4.00E-08 | NA | 1.07 | [1.02-1.12] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs3194051-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
5 | 40410935 | rs6451493 | G | T | rs6451493 | 21297633 | 3.00E-09 | NA | 1.08 | [1.04-1.12] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6451493-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
5 | 107834247 | rs4571457 | C | T | rs4571457 | 20848476 | 7.00E-06 | Ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | T |
5 | 134443606 | rs254560 | G | A | rs254560 | 21297633 | 1.00E-09 | NA | 1.07 | [1.03-1.12] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs254560-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
5 | 134443606 | rs254560 | G | A | rs254560 | 23128233 | 3.00E-09 | NA | 1.06 | [1.02-1.09] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs254560-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
5 | 158826792 | rs6871626 | C | A | rs6871626 | 21297633 | 1.00E-21 | NA | 1.17 | [1.12-1.22] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6871626-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
6 | 29934163 | rs6935053 | A | C | rs6935053 | 23511034 | 2.00E-06 | Conditioned on rs9271366 | NA | NA | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | Comparative Study | C |
6 | 30799399 | rs9501030 | T | A | rs9501030 | 20848476 | 4.00E-06 | Ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | A |
6 | 31111356 | rs9263739 | C | T | rs9263739 | 19915573 | 4.00E-67 | NA | 2.73 | [2.43-3.07] | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs9263739-T | Research Support, Non-U.S. Gov't | C | CCHCR1 |
6 | 31448862 | rs3749946 | C | A | rs3749946 | 24837172 | 2.00E-15 | NA | 1.97 | [1.66-2.33] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs3749946-A | Research Support, Non-U.S. Gov't | NA | NA |
6 | 31603591 | rs2261033 | A | G | rs2261033 | 24837172 | 1.81E-08 | NA | 1.34 | [1.21-1.48] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2261033-G | Research Support, Non-U.S. Gov't | T | PRRC2A |
6 | 31726688 | rs707939 | C | A | rs707939 | 24837172 | 7.02E-10 | NA | 1.51 | [1.32-1.72] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs707939-A | Research Support, Non-U.S. Gov't | G | MSH5 |
6 | 31777946 | rs2075800 | C | T | rs2075800 | 24837172 | 2.44E-10 | NA | 1.41 | [1.27-1.56] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2075800-A | Research Support, Non-U.S. Gov't | G | HSPA1L |
6 | 31843924 | rs2736428 | C | T | rs2736428 | 24837172 | 4.86E-11 | NA | 1.43 | [1.28-1.59] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2736428-A | Research Support, Non-U.S. Gov't | G | SLC44A4 |
6 | 31917540 | rs4151657 | T | C | rs4151657 | 24837172 | 5.00E-14 | NA | 1.54 | [1.38-1.73] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4151657-G | Research Support, Non-U.S. Gov't | T | CFB |
6 | 32079567 | rs17207986 | T | C | rs17207986 | 20848476 | 1.00E-16 | Ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | C,T |
6 | 32205045 | rs549182 | G | A | rs549182 | 24837172 | 8.00E-10 | NA | 1.59 | [1.37-1.85] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs549182-A | Research Support, Non-U.S. Gov't | G | NA |
6 | 32363844 | rs9268480 | C | T | rs9268480 | 19915573 | 3.00E-06 | NA | 1.82 | [1.43-2.33] | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs9268480-G | Research Support, Non-U.S. Gov't | C | BTNL2 |
6 | 32429643 | rs9268853 | T | C | rs9268853 | 21297633 | 1.00E-55 | NA | 1.4 | [1.34-1.47] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs9268853-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
6 | 32429643 | rs9268853 | T | C | rs9268853 | 23511034 | 3.00E-06 | NA | 1.37 | [1.20-1.56] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs9268853-T | Research Support, Non-U.S. Gov't | Comparative Study | T |
6 | 32431147 | rs9268877 | A | G | rs9268877 | 18836448 | 6.00E-18 | NA | 1.45 | [1.33-1.58] | 1,167 cases; 777 controls | NOPOP(1944) | ALL(1944) | NOPOP(1944) | ALL(1944) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs9268877-T | Research Support, Non-U.S. Gov't | G | NA |
6 | 32431147 | rs9268877 | A | G | rs9268877 | 19915572 | 4.00E-23 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
6 | 32432835 | rs9268923 | C | T | rs9268923 | 20228798 | 4.00E-15 | NA | 1.45 | [1.33-1.59] | 1,043 German cases; 1,703 German controls | German(2746) | ALL(2746) | EUR(2746) | ALL(2746) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs9268923-C | Research Support, Non-U.S. Gov't | C | NA |
6 | 32433167 | rs2395185 | G | T | rs2395185 | 19122664 | 1.00E-16 | NA | 1.52 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
6 | 32433167 | rs2395185 | G | T | rs2395185 | 19915573 | 5.00E-22 | NA | 1.92 | [1.68-2.19] | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2395185-G | Research Support, Non-U.S. Gov't | G | NA |
6 | 32509357 | rs28772724 | G | T | rs28772724 | 20848476 | 1.34E-08 | Medically refractory ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis, refractory | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | NA | NA | NA | NA | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | G |
6 | 32586854 | rs9271366 | G | A | rs9271366 | 23511034 | 1.00E-18 | NA | 2.1 | [1.78-2.48] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs9271366-G | Research Support, Non-U.S. Gov't | Comparative Study | A |
6 | 32612397 | rs6927022 | A | G | rs6927022 | 23128233 | 5.00E-133 | NA | 1.44 | [1.39-1.50] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6927022-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
6 | 32800224 | rs2228397 | C | A | rs2228397 | 24837172 | 1.04E-05 | NA | 1.28 | [1.15-1.43] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2228397-A | Research Support, Non-U.S. Gov't | G | TAP2 |
6 | 43795968 | rs943072 | G | T | rs943072 | 21297633 | 2.00E-10 | NA | 1.15 | [1.08-1.23] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs943072-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
6 | 106522027 | rs6911490 | T | C | rs6911490 | 21297633 | 1.00E-08 | NA | 1.08 | [1.03-1.13] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6911490-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
6 | 134661885 | rs379977 | A | C | rs379977 | 19915573 | 7.34E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
6 | 138006504 | rs6920220 | G | A | rs6920220 | 21297633 | 8.00E-17 | NA | 1.14 | [1.09-1.20] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6920220-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
6 | 146824085 | rs4543390 | C | G | rs4543390 | 19915572 | 1.10E-06 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
7 | 2789880 | rs798502 | A | C | rs798502 | 21297633 | 3.00E-15 | NA | 1.13 | [1.08-1.18] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs798502-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
7 | 2789880 | rs798502 | A | C | rs798502 | 23128233 | 6.00E-17 | NA | 1.13 | [1.08-1.17] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs798502-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
7 | 18800413 | rs11764116 | G | T | rs11764116 | 20848476 | 2.00E-06 | Ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | T |
7 | 27231762 | rs4722672 | C | T | rs4722672 | 23128233 | 2.00E-08 | NA | 1.09 | [1.04-1.14] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4722672-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
7 | 81857893 | rs929351 | T | G | rs929351 | 20848476 | 8.00E-06 | Ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | T |
7 | 98760504 | rs7809799 | G | A | rs7809799 | 20228798 | 9.00E-11 | NA | 1.56 | [1.36-1.78] | 1,043 German cases; 1,703 German controls | German(2746) | ALL(2746) | EUR(2746) | ALL(2746) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs7809799-G | Research Support, Non-U.S. Gov't | A | NA |
7 | 107453103 | rs2108225 | G | A | rs2108225 | 19915573 | 1.00E-07 | NA | 1.32 | [1.19-1.47] | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2108225-A | Research Support, Non-U.S. Gov't | A | NA |
7 | 107479519 | rs4730273 | C | A | rs4730273 | 19122664 | 5.00E-06 | NA | 1.22 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
7 | 107480315 | rs4380874 | T | C | rs4380874 | 23128233 | 2.00E-26 | NA | 1.14 | [1.10-1.18] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4380874-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
7 | 107484437 | rs4730276 | G | A | rs4730276 | 19122664 | 9.00E-06 | NA | 1.22 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
7 | 107492789 | rs4510766 | A | G | rs4510766 | 21297633 | 2.00E-16 | NA | 1.2 | [1.15-1.26] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4510766-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
7 | 107495434 | rs886774 | G | A | rs886774 | 19915572 | 3.00E-08 | NA | 1.11 | [1.03-1.19] | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs886774-G | Research Support, Non-U.S. Gov't | A | NA |
7 | 107503441 | rs4598195 | A | C | rs4598195 | 19122664 | 1.00E-06 | NA | 1.23 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
7 | 107503441 | rs4598195 | A | C | rs4598195 | 20228799 | 8.00E-08 | NA | 1.09 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4598195-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
7 | 107580839 | rs2158836 | A | G | rs2158836 | 19122664 | 7.00E-06 | NA | 1.21 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2158836-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
7 | 128573967 | rs4728142 | G | A | rs4728142 | 21297633 | 2.00E-08 | NA | 1.07 | [1.03-1.11] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4728142-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
7 | 128573967 | rs4728142 | G | A | rs4728142 | 23128233 | 4.00E-14 | NA | 1.1 | [1.07-1.14] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4728142-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
7 | 128573967 | rs4728142 | G | A | rs4728142 | 23511034 | 3.35E-04 | NA | 1.38 | [1.16-1.65] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4728142-A | Research Support, Non-U.S. Gov't | Comparative Study | G,A |
9 | 4981602 | rs10758669 | C | A | rs10758669 | 20228799 | 1.00E-06 | NA | 1.22 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs10758669-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
9 | 4981602 | rs10758669 | C | A | rs10758669 | 21297633 | 2.00E-25 | NA | 1.17 | [1.12-1.21] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs10758669-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
9 | 4981602 | rs10758669 | C | A | rs10758669 | 23511034 | 3.83E-05 | NA | 1.31 | [1.15-1.49] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs10758669-C | Research Support, Non-U.S. Gov't | Comparative Study | A |
9 | 4981602 | rs10758669 | C | A | rs10758669 | 23511034 | 6.59E-05 | NA | 1.21 | [1.10-1.34] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs10758669-C | Research Support, Non-U.S. Gov't | Comparative Study | A |
9 | 5213687 | rs10975003 | T | C | rs10975003 | 19915573 | 1.00E-06 | NA | 1.34 | [1.18-1.51] | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs10975003-C | Research Support, Non-U.S. Gov't | C | NA |
9 | 7209284 | rs7020238 | T | C | rs7020238 | 19915572 | 2.70E-05 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | C | NA |
9 | 85311147 | rs668853 | C | T | rs668853 | 19122664 | 2.00E-06 | NA | 1.2 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs668853-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
9 | 117553249 | rs4246905 | T | C | rs4246905 | 21297633 | 6.00E-12 | NA | 1.1 | [1.05-1.15] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4246905-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
9 | 117605070 | rs11554257 | T | C | rs11554257 | 20848476 | 1.39E-06 | Medically refractory ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis, refractory | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | NA | NA | NA | NA | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | T |
9 | 139266405 | rs10781499 | G | A | rs10781499 | 21297633 | 3.00E-19 | NA | 1.12 | [1.08-1.17] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs10781499-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
9 | 139266496 | rs4077515 | C | T | rs4077515 | 20228799 | 5.00E-08 | NA | 1.14 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4077515-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
9 | 139269338 | rs10781500 | C | T | rs10781500 | 19915572 | 7.00E-06 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | C | CARD9 |
10 | 29349286 | rs1773842 | G | A | rs1773842 | 19915573 | 9.32E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | T | NA |
10 | 35554054 | rs12261843 | T | G | rs12261843 | 21297633 | 7.00E-10 | NA | 1.07 | [1.03-1.12] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs12261843-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
10 | 35554054 | rs12261843 | T | G | rs12261843 | 23511034 | 8.33E-04 | NA | 1.26 | [1.10-1.44] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs12261843-G | Research Support, Non-U.S. Gov't | Comparative Study | T |
10 | 101290301 | rs6584283 | T | C | rs6584283 | 19915572 | 2.00E-07 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | C | NA |
10 | 101290301 | rs6584283 | T | C | rs6584283 | 20228798 | 2.00E-06 | NA | 1.22 | [1.12-1.32] | 1,043 German cases; 1,703 German controls | German(2746) | ALL(2746) | EUR(2746) | ALL(2746) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6584283-T | Research Support, Non-U.S. Gov't | C | NA |
10 | 101290301 | rs6584283 | T | C | rs6584283 | 21297633 | 8.00E-21 | NA | 1.21 | [1.16-1.26] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6584283-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
10 | 101291593 | rs11190140 | T | C | rs11190140 | 20228799 | 1.00E-08 | NA | 1.2 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs11190140-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
11 | 1874072 | rs907611 | G | A | rs907611 | 21297633 | 1.00E-10 | NA | 1.08 | [1.03-1.13] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs907611-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
11 | 13925559 | rs12271425 | G | C | rs12271425 | 19915572 | 2.10E-05 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
11 | 24356464 | rs7950920 | G | A | rs7950920 | 19915573 | 4.32E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | A | NA |
11 | 76299194 | rs2155219 | G | T | rs2155219 | 21297633 | 5.00E-16 | NA | 1.13 | [1.08-1.17] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2155219-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
11 | 96023427 | rs483905 | G | A | rs483905 | 23128233 | 1.00E-08 | NA | 1.06 | [1.02-1.10] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs483905-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
11 | 114386830 | rs561722 | C | T | rs561722 | 23128233 | 5.00E-17 | NA | 1.12 | [1.08-1.16] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs561722-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
11 | 114431956 | rs678170 | A | G | rs678170 | 21297633 | 5.00E-14 | NA | 1.09 | [1.05-1.14] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs678170-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
12 | 21976428 | rs4148677 | C | T | rs4148677 | 24837172 | 2.26E-05 | NA | 1.32 | [1.10-1.58] | 603 North Indian ancestry cases; 622 North Indian ancestry controls | North Indian(1225) | ALL(1225) | SAN(1225) | ALL(1225) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4148677-G | Research Support, Non-U.S. Gov't | G | ABCC9 |
12 | 68500075 | rs7134599 | G | A | rs7134599 | 21297633 | 1.00E-16 | NA | 1.19 | [1.19-1.24] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs7134599-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
12 | 68504592 | rs1558744 | G | A | rs1558744 | 19122664 | 3.00E-12 | NA | 1.35 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1558744-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
12 | 68504592 | rs1558744 | G | A | rs1558744 | 20228799 | 4.00E-12 | NA | 1.16 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1558744-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
12 | 68504592 | rs1558744 | G | A | rs1558744 | 20848476 | 9.03E-05 | Medically refractory ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis, refractory | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | NA | NA | NA | NA | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | A |
12 | 68596661 | rs2870946 | T | C | rs2870946 | 19122664 | 5.00E-07 | NA | 1.54 | NA | 1,022 cases; 2,503 controls | NOPOP(3525) | ALL(3525) | NOPOP(3525) | ALL(3525) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2870946-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
13 | 27531267 | rs17085007 | T | C | rs17085007 | 19915573 | 7.00E-08 | NA | 1.35 | [1.21-1.51] | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs17085007-C | Research Support, Non-U.S. Gov't | T | NA |
13 | 27531267 | rs17085007 | T | C | rs17085007 | 21297633 | 1.00E-16 | NA | 1.16 | [1.10-1.21] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs17085007-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
13 | 27531267 | rs17085007 | T | C | rs17085007 | 23511034 | 3.00E-07 | NA | 1.37 | [1.22-1.55] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs17085007-C | Research Support, Non-U.S. Gov't | Comparative Study | T |
13 | 27531267 | rs17085007 | T | C | rs17085007 | 23511034 | 8.00E-06 | NA | 1.4 | [1.21-1.63] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs17085007-C | Research Support, Non-U.S. Gov't | Comparative Study | T |
13 | 27533642 | rs9553939 | G | A | rs9553939 | 19915573 | 4.60E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
13 | 27537873 | rs6491170 | T | C | rs6491170 | 19915573 | 8.11E-06 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | C | NA |
13 | 27542276 | rs3897233 | C | A | rs3897233 | 19915572 | 1.20E-06 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | T | NA |
13 | 27543757 | rs6650264 | C | T | rs6650264 | 19915573 | 4.00E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | T | NA |
13 | 40505510 | rs9548988 | C | T | rs9548988 | 19915572 | 3.00E-07 | NA | 1.1 | [1.03-1.19] | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs9548988-T | Research Support, Non-U.S. Gov't | T | NA |
13 | 41013977 | rs941823 | T | C | rs941823 | 21297633 | 4.00E-12 | NA | 1.12 | [1.07-1.17] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs941823-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
13 | 79550934 | rs7319358 | C | T | rs7319358 | 20848476 | 3.00E-06 | Ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | C |
14 | 29132877 | rs1956388 | G | A | rs1956388 | 20848476 | 2.00E-06 | Ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | T |
14 | 75734471 | rs8004059 | G | A | rs8004059 | 19915573 | 9.61E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
14 | 75747118 | rs1063169 | G | T | rs1063169 | 23511034 | 1.20E-05 | NA | 1.27 | [1.14-1.41] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | Comparative Study | G |
14 | 77138110 | rs17104722 | G | C | rs17104722 | 19915572 | 3.90E-06 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
14 | 82669795 | rs9323719 | C | T | rs9323719 | 19915573 | 1.37E-06 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | T | NA |
15 | 41563950 | rs28374715 | A | G | rs28374715 | 23128233 | 2.00E-08 | NA | 1.08 | [1.04-1.13] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs28374715-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
16 | 10975311 | rs4781011 | T | G | rs4781011 | 20228799 | 3.00E-06 | NA | 1.12 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs4781011-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
16 | 18023977 | rs1428103 | C | T | rs1428103 | 19915572 | 6.00E-06 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
16 | 20030832 | rs2764742 | C | T | rs2764742 | 19915572 | 6.80E-07 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | T | NA |
16 | 30482494 | rs11150589 | T | C | rs11150589 | 23128233 | 6.00E-10 | NA | 1.09 | [1.05-1.13] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs11150589-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
16 | 68573945 | rs1182968 | C | T | rs1182968 | 20848476 | 5.66E-04 | Medically refractory ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis, refractory | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | NA | NA | NA | NA | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | G |
16 | 68591230 | rs1728785 | A | C | rs1728785 | 19915572 | 3.00E-08 | NA | 1.17 | [1.07-1.27] | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1728785-G | Research Support, Non-U.S. Gov't | C | ZFP90 |
16 | 68591230 | rs1728785 | A | C | rs1728785 | 23128233 | 4.00E-08 | NA | 1.08 | [1.03-1.12] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1728785-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
16 | 68674788 | rs6499188 | G | A | rs6499188 | 21297633 | 4.00E-08 | NA | 1.14 | [1.09-1.20] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6499188-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
16 | 81959952 | rs7201045 | A | G | rs7201045 | 19915573 | 9.02E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | PLCG2 |
16 | 81960200 | rs8063604 | A | G | rs8063604 | 19915573 | 2.77E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | A | PLCG2 |
16 | 81960365 | rs12446596 | C | T | rs12446596 | 19915573 | 2.45E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | T | PLCG2 |
16 | 86009740 | rs16940186 | T | C | rs16940186 | 23511034 | 4.00E-10 | NA | 1.56 | [1.36-1.80] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs16940186-G | Research Support, Non-U.S. Gov't | Comparative Study | T |
16 | 86014241 | rs16940202 | T | C | rs16940202 | 21297633 | 6.00E-19 | NA | 1.15 | [1.10-1.21] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs16940202-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
16 | 86014241 | rs16940202 | T | C | rs16940202 | 23511034 | 3.00E-09 | NA | 1.52 | [1.32-1.74] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs16940202-C | Research Support, Non-U.S. Gov't | Comparative Study | C |
16 | 86827339 | rs13337840 | A | G | rs13337840 | 19915572 | 9.00E-07 | NA | NA | NA | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | G | NA |
17 | 38040763 | rs2872507 | G | A | rs2872507 | 21297633 | 5.00E-11 | NA | 1.15 | [1.10-1.19] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2872507-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
17 | 38040763 | rs2872507 | G | A | rs2872507 | 23511034 | 6.04E-04 | NA | 1.26 | [1.10-1.45] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2872507-A | Research Support, Non-U.S. Gov't | Comparative Study | G |
17 | 38051348 | rs8067378 | A | G | rs8067378 | 20228799 | 1.00E-07 | NA | 1.12 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs8067378-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
17 | 38062196 | rs2305480 | G | A | rs2305480 | 20228799 | 3.00E-08 | NA | 1.15 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2305480-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
17 | 70641698 | rs7210086 | A | C | rs7210086 | 23128233 | 2.00E-09 | NA | 1.11 | [1.06-1.16] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs7210086-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
19 | 47123783 | rs1126510 | A | G | rs1126510 | 23128233 | 2.00E-09 | NA | 1.08 | [1.04-1.11] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1126510-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
20 | 31718653 | rs6059101 | C | T | rs6059101 | 20848476 | 4.00E-06 | Ulcerative colitis | NA | NA | 861 British cases; 2601 European ancestry non-IBD controls | British(861) | European(2601) | ALL(3462) | EUR(3462) | ALL(3462) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, N.I.H., Extramural | C |
20 | 33799280 | rs6088765 | T | G | rs6088765 | 23128233 | 2.00E-08 | NA | 1.08 | [1.04-1.12] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6088765-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
20 | 43065028 | rs6017342 | A | C | rs6017342 | 19915572 | 9.00E-17 | NA | 1.17 | [1.09-1.26] | 2,361 European ancestry cases; 5,417 European ancestry controls | European(7778) | ALL(7778) | EUR(7778) | ALL(7778) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6017342-C | Research Support, Non-U.S. Gov't | C | NA |
20 | 43065028 | rs6017342 | A | C | rs6017342 | 21297633 | 1.00E-20 | NA | 1.2 | [1.15-1.26] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6017342-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
20 | 43065028 | rs6017342 | A | C | rs6017342 | 23128233 | 1.00E-43 | NA | 1.23 | [1.19-1.27] | Up to 12,924 European ancestry cases; up to 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs6017342-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
20 | 62327582 | rs2297441 | G | A | rs2297441 | 21297633 | 2.00E-10 | NA | 1.09 | [1.04-1.15] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2297441-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
21 | 16805220 | rs1736135 | T | C | rs1736135 | 20228799 | 2.00E-07 | NA | 1.2 | NA | 2,693 European descent cases; 6,791 European descent controls | European(9484) | ALL(9484) | EUR(9484) | ALL(9484) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1736135-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
21 | 16817051 | rs1297265 | A | G | rs1297265 | 21297633 | 7.00E-13 | NA | 1.11 | [1.06-1.15] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs1297265-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
21 | 40465534 | rs2836878 | G | A | rs2836878 | 21297633 | 2.00E-22 | NA | 1.25 | [1.20-1.32] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2836878-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
21 | 41986768 | rs2837751 | C | A | rs2837751 | 19915573 | 2.99E-05 | NA | NA | NA | 376 Japanese cases; 934 Japanese controls | Japanese(1310) | ALL(1310) | ASN(1310) | ALL(1310) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | NA | Research Support, Non-U.S. Gov't | A | DSCAM |
21 | 45615023 | rs2838519 | G | A | rs2838519 | 21297633 | 6.00E-11 | NA | 1.14 | [1.05-1.22] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs2838519-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
22 | 21939675 | rs5754217 | G | T | rs5754217 | 23511034 | 9.84E-07 | NA | 1.26 | [1.15-1.37] | 388 Korean ancestry cases; 739 Korean ancestry controls | Korean(1127) | ALL(1127) | ASN(1127) | ALL(1127) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs5754217-T | Research Support, Non-U.S. Gov't | Comparative Study | T |
22 | 50435480 | rs5771069 | A | G | rs5771069 | 20228798 | 4.00E-08 | NA | 1.17 | [1.11-1.25] | 1,043 German cases; 1,703 German controls | German(2746) | ALL(2746) | EUR(2746) | ALL(2746) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs5771069-G | Research Support, Non-U.S. Gov't | G | IL17REL |
22 | 50435480 | rs5771069 | A | G | rs5771069 | 21297633 | 2.00E-07 | NA | 1.11 | [1.07-1.16] | 6,687 European ancestry cases; 19,718 European ancestry controls | European(26405) | ALL(26405) | EUR(26405) | ALL(26405) | Ulcerative colitis | HPOID:0100279 | Ulcerative colitis | DOID:8577 | ulcerative colitis | D003093 | Colitis, Ulcerative | EFOID:0000729 | ulcerative colitis | Ulcerative colitis | rs5771069-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
Mapped by lexical matching(Total Items:1) | ||||
---|---|---|---|---|
HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment;HP:0001937 | Microangiopathic hemolytic anemia |
Mapped by homologous gene(Total Items:1) | ||||
---|---|---|---|---|
HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0002584 | Intestinal bleeding | MP:0000260 | abnormal angiogenesis;HP:0000407 | Sensorineural hearing impairment |
Chemical(Total Drugs:5) | |||||||||
---|---|---|---|---|---|---|---|---|---|
CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0009324 | capsaicin | D002211 | 404-86-4 | colitis, ulcerative | MESH:D003093 | therapeutic | 15573930 | ||
C0009324 | cyclosporine | D016572 | 59865-13-3 | colitis, ulcerative | MESH:D003093 | marker/mechanism | 26276312 | ||
C0009324 | nicotine | D009538 | - | colitis, ulcerative | MESH:D003093 | therapeutic | 15976189 | ||
C0009324 | rosiglitazone | C089730 | - | colitis, ulcerative | MESH:D003093 | therapeutic | 20087330 | ||
C0009324 | thalidomide | D013792 | 50-35-1 | colitis, ulcerative | MESH:D003093 | therapeutic | 17269997 |
FDA approved drug and dosage information(Total Drugs:0) | |
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(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |