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PedAM

Pediatric Disease Annotations & Medicines



   ulcerative colitis
  

Disease ID 101
Disease ulcerative colitis
Definition
Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.
Synonym
colitis gravis
colitis gravis, nos
colitis ulcerative
colitis ulcerosa
colitis, ulcerative
colitis, ulcerative [disease/finding]
idiopathic proctocolitis
idiopathic proctocolitis (disorder)
idiopathic proctocolitis -retired-
idiopathic proctocolitis nos
idiopathic proctocolitis nos (disorder)
inflammatory bowel disease ulcerative colitis
inflammatory bowel disease, ulcerative colitis type
uc - ulcerative colitis
ulcerative colitis (disorder)
ulcerative colitis as main diagnosis for the colon
ulcerative colitis as reason for lower g.i. examination
ulcerative colitis, nos
ulcerative colitis, unspecified
ulceratve colitis unspcf
DOID
UMLS
C0009324
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:213)
C0007113  |  rectal cancer  |  40
C0009402  |  colorectal cancer  |  40
C0021831  |  bowel disease  |  29
C0009319  |  colitis  |  22
C0021390  |  inflammatory bowel disease  |  22
C0010346  |  crohn's disease  |  15
C0034212  |  pyoderma  |  15
C0085652  |  pyoderma gangrenosum  |  13
C0040053  |  thrombosis  |  13
C0566602  |  primary sclerosing cholangitis  |  12
C0008313  |  sclerosing cholangitis  |  12
C0042769  |  virus infection  |  12
C0007102  |  colon cancer  |  11
C0024299  |  lymphoma  |  9
C0008311  |  cholangitis  |  8
C0042384  |  vasculitis  |  8
C0011991  |  diarrhea  |  7
C0002871  |  anemia  |  7
C0030305  |  pancreatitis  |  6
C0868908  |  pancolitis  |  6
C0343386  |  clostridium difficile infection  |  5
C0032285  |  pneumonia  |  5
C0034150  |  purpura  |  5
C0003864  |  arthritis  |  4
C0025160  |  megacolon  |  4
C0039263  |  takayasu arteritis  |  4
C0011570  |  depression  |  4
C0020877  |  ileitis  |  4
C0009402  |  colorectal carcinoma  |  4
C0007113  |  rectal carcinoma  |  4
C0043117  |  immune thrombocytopenic purpura  |  3
C0041296  |  tuberculosis  |  3
C0002878  |  haemolytic anaemia  |  3
C0011991  |  diarrhoea  |  3
C0002880  |  autoimmune haemolytic anaemia  |  3
C0027059  |  myocarditis  |  3
C0037198  |  sinus thrombosis  |  3
C0002871  |  anaemia  |  2
C0027697  |  nephritis  |  2
C0004943  |  behcet's disease  |  2
C0013298  |  duodenitis  |  2
C0001339  |  acute pancreatitis  |  2
C0034152  |  henoch-schonlein purpura  |  2
C0241910  |  autoimmune hepatitis  |  2
C0011847  |  diabetes  |  2
C0019158  |  hepatitis  |  2
C0856761  |  budd-chiari syndrome  |  2
C0004030  |  aspergillosis  |  2
C1704437  |  respiratory distress syndrome  |  2
C0037274  |  dermatosis  |  2
C0014118  |  endocarditis  |  2
C0004153  |  atherosclerosis  |  2
C0023895  |  liver disease  |  2
C0001418  |  adenocarcinoma  |  2
C0033246  |  proctitis  |  2
C0242770  |  bronchiolitis obliterans organizing pneumonia  |  2
C0024115  |  lung disease  |  2
C0009402  |  colorectal carcinomas  |  2
C0002874  |  aplastic anemia  |  2
C0011849  |  diabetes mellitus  |  2
C0024291  |  hemophagocytic syndrome  |  2
C0027707  |  interstitial nephritis  |  2
C0021053  |  immune disease  |  2
C0013990  |  emphysema  |  2
C0035222  |  acute respiratory distress syndrome  |  2
C0022658  |  nephropathy  |  2
C0019829  |  hodgkin's lymphoma  |  2
C0002880  |  autoimmune hemolytic anemia  |  2
C0003873  |  rheumatoid arthritis  |  2
C0206141  |  hypereosinophilic syndrome  |  2
C0007222  |  cardiovascular disease  |  2
C0025162  |  toxic megacolon  |  2
C0026684  |  appendiceal mucocele  |  2
C0006271  |  bronchiolitis  |  2
C0021390  |  inflammatory bowel diseases  |  2
C0042373  |  vascular disease  |  2
C0027726  |  nephrotic syndrome  |  2
C0002878  |  hemolytic anemia  |  2
C0151436  |  leukocytoclastic vasculitis  |  2
C0042164  |  uveitis  |  2
C0014121  |  infective endocarditis  |  2
C0019829  |  hodgkin lymphoma  |  1
C0272412  |  splenic abscess  |  1
C0011633  |  dermatomyositis  |  1
C0035328  |  retinal vein occlusion  |  1
C0595978  |  idiopathic megacolon  |  1
C0079744  |  diffuse large b-cell lymphoma  |  1
C0042870  |  vitamin d deficiency  |  1
C0024623  |  gastric cancer  |  1
C0700101  |  carcinoma of the urethra  |  1
C0029443  |  osteomyelitis  |  1
C0039263  |  takayasu's disease  |  1
C0017661  |  iga nephropathy  |  1
C0155686  |  acute myocarditis  |  1
C0039446  |  telangiectasis  |  1
C0004623  |  bacterial infections  |  1
C0018784  |  sensorineural hearing loss  |  1
C0036220  |  kaposi's sarcoma  |  1
C0032453  |  relapsing polychondritis  |  1
C0036202  |  sarcoidosis  |  1
C0021843  |  bowel obstruction  |  1
C0040053  |  thrombus  |  1
C0341335  |  cytomegalovirus colitis  |  1
C0040034  |  thrombocytopenia  |  1
C1261473  |  sarcoma  |  1
C0338575  |  sagittal sinus thrombosis  |  1
C0740277  |  bile duct cancer  |  1
C0024314  |  lymphoproliferative disorder  |  1
C0149521  |  chronic pancreatitis  |  1
C0024314  |  lymphoproliferative disease  |  1
C0021345  |  mononucleosis  |  1
C0023473  |  chronic myelogenous leukemia  |  1
C0154841  |  central retinal vein occlusion  |  1
C0002726  |  amyloidosis  |  1
C0024291  |  haemophagocytic lymphohistiocytosis  |  1
C0027121  |  myositis  |  1
C0032305  |  pneumocystis  |  1
C0037274  |  dermatological disorder  |  1
C0021933  |  intussusception  |  1
C0004352  |  infantile autism  |  1
C0079731  |  b-cell lymphoma  |  1
C1527249  |  colorectal cancers  |  1
C0002438  |  amebiasis  |  1
C0008513  |  chorioretinitis  |  1
C0024305  |  non-hodgkin's lymphoma  |  1
C0153446  |  anal cancer  |  1
C0013370  |  intestinal amebiasis  |  1
C0007137  |  squamous cell carcinoma  |  1
C0010068  |  coronary artery disease  |  1
C0087086  |  thrombi  |  1
C0036203  |  cutaneous sarcoidosis  |  1
C0019163  |  hepatitis b  |  1
C0022951  |  lactose intolerance  |  1
C0023283  |  cutaneous leishmaniasis  |  1
C0006272  |  bronchiolitis obliterans  |  1
C0026769  |  multiple sclerosis  |  1
C0155773  |  portal vein thrombosis  |  1
C0004096  |  asthma  |  1
C0043117  |  idiopathic thrombocytopenic purpura  |  1
C0019112  |  hemorrhoids  |  1
C1276146  |  cutaneous lymphoma  |  1
C0014038  |  encephalitis  |  1
C0007642  |  cellulitis  |  1
C0267572  |  ulcerative proctitis  |  1
C0221002  |  primary hyperparathyroidism  |  1
C0003467  |  anxiety  |  1
C0030807  |  pemphigus  |  1
C0206178  |  cmv retinitis  |  1
C0341335  |  cmv colitis  |  1
C0003615  |  appendicitis  |  1
C0037998  |  splenic infarction  |  1
C0238106  |  clostridium difficile colitis  |  1
C0007177  |  pericardial tamponade  |  1
C1527336  |  sjogren's syndrome  |  1
C0018552  |  hamartoma  |  1
C0410422  |  chronic recurrent multifocal osteomyelitis  |  1
C0023281  |  leishmaniasis  |  1
C0035333  |  retinitis  |  1
C0023269  |  leiomyosarcoma  |  1
C0162429  |  malnutrition  |  1
C0026986  |  myelodysplastic syndrome  |  1
C0007785  |  cerebral infarction  |  1
C0027051  |  myocardial infarction  |  1
C0017658  |  glomerulonephritis  |  1
C0008350  |  gallstones  |  1
C0949691  |  spondyloarthropathy  |  1
C0156147  |  crohn's colitis  |  1
C0037280  |  infestation  |  1
C0019202  |  wilson's disease  |  1
C0007177  |  cardiac tamponade  |  1
C0036454  |  visual field defect  |  1
C0242647  |  malt lymphoma  |  1
C0021845  |  bowel perforation  |  1
C0004623  |  bacterial infection  |  1
C0032266  |  pneumatosis cystoides intestinalis  |  1
C0039263  |  takayasu disease  |  1
C0238003  |  appendiceal adenocarcinoma  |  1
C0017152  |  gastritis  |  1
C0949690  |  spondyloarthritis  |  1
C0042870  |  vitamin d defic  |  1
C0042165  |  anterior uveitis  |  1
C0020502  |  hyperparathyroidism  |  1
C0004352  |  autism  |  1
C0034885  |  rectal neoplasms  |  1
C0008312  |  primary biliary cirrhosis  |  1
C0018203  |  chronic granulomatous disease  |  1
C0242379  |  lung cancer  |  1
C0030805  |  pemphigoid  |  1
C0038220  |  status epilepticus  |  1
C0149640  |  carcinoma of the cecum  |  1
C0023470  |  myelogenous leukemia  |  1
C0007785  |  cerebral infarct  |  1
C0008312  |  biliary cirrhosis  |  1
C0001430  |  adenoma  |  1
C0023267  |  fibroid  |  1
C0023418  |  leukemia  |  1
C0022116  |  ischemia  |  1
C0007787  |  transient ischemic attack  |  1
C0037274  |  skin disease  |  1
C0036203  |  cutaneous sarcoid  |  1
C0155626  |  acute mi  |  1
C0036421  |  systemic sclerosis  |  1
C0018916  |  haemangioma  |  1
C0022893  |  labyrinthitis  |  1
C1527407  |  eosinophilic pneumonia  |  1
C0018920  |  cavernous haemangioma  |  1
C0206062  |  interstitial lung disease  |  1
C0027051  |  myocardial infarct  |  1
C0016412  |  folate deficiency  |  1
C2697932  |  loeys-dietz syndrome  |  1
C0085113  |  neurofibromatosis  |  1
C0030326  |  panniculitis  |  1
C0030809  |  pemphigus vulgaris  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:92)
HLA-DRB1  |  3123  |  CTD_human
TNF  |  7124  |  CTD_human
PSMG1  |  8624  |  CTD_human
HLA-DQA1  |  3117  |  GWASCAT
ICAM1  |  3383  |  CTD_human
CCR6  |  1235  |  CTD_human
STAT3  |  6774  |  CTD_human
OTUD3  |  23252  |  GWASCAT
VCAM1  |  7412  |  CTD_human
CASP3  |  836  |  CTD_human
NOD2  |  64127  |  CTD_human
RELA  |  5970  |  CTD_human
FCGR2A  |  2212  |  CTD_human;GWASCAT
C1orf106  |  55765  |  GWASCAT
MMP9  |  4318  |  CTD_human
IL1B  |  3553  |  CTD_human
APEH  |  327  |  GWASCAT
PTPRC  |  5788  |  GWASCAT
C21orf33  |  8209  |  GWASCAT
ITGAL  |  3683  |  GWASCAT
HERC2  |  8924  |  CTD_human
IL12B  |  3593  |  CTD_human
LAMB1  |  3912  |  CTD_human
CDH3  |  1001  |  CTD_human
PTGIR  |  5739  |  GWASCAT
LSP1  |  4046  |  CTD_human;GWASCAT
LTF  |  4057  |  CTD_human
RTEL1  |  51750  |  GWASCAT
MST1  |  4485  |  CTD_human;GWASCAT
IL23R  |  149233  |  CTD_human;GWASCAT
CCL20  |  6364  |  CTD_human
IRF5  |  3663  |  CTD_human
IL10  |  3586  |  CTD_human;GWASCAT
JAK2  |  3717  |  CTD_human
CCNY  |  219771  |  CTD_human;GWASCAT
PARK7  |  11315  |  GWASCAT
SLC11A1  |  6556  |  CTD_human
PRDM1  |  639  |  CTD_human
C5orf66  |  100996485  |  GWASCAT
MPO  |  4353  |  CTD_human
HNF4A  |  3172  |  CTD_human
PTPN2  |  5771  |  CTD_human
CFB  |  629  |  GWASCAT
DEFA5  |  1670  |  CTD_human
IL1R2  |  7850  |  CTD_human
IRGM  |  345611  |  CTD_human
LINC00598  |  646982  |  GWASCAT
MUC3A  |  4584  |  CTD_human
CXCL8  |  3576  |  CTD_human
PUS10  |  150962  |  GWASCAT
ORMDL3  |  94103  |  CTD_human
GHRL  |  51738  |  CTD_human
NFKB1  |  4790  |  GWASCAT
NKX2-3  |  159296  |  CTD_human;GWASCAT
IL7R  |  3575  |  CTD_human;GWASCAT
CDH1  |  999  |  CTD_human
TNFSF15  |  9966  |  CTD_human;GWASCAT
CARD9  |  64170  |  CTD_human;GWASCAT
IKZF1  |  10320  |  CTD_human
BSN  |  8927  |  GWASCAT
ICOSLG  |  23308  |  CTD_human
ECM1  |  1893  |  CTD_human
CCHCR1  |  54535  |  GWASCAT
GSDMB  |  55876  |  GWASCAT
KIF21B  |  23046  |  CTD_human
PROCR  |  10544  |  GWASCAT
IL17REL  |  400935  |  CTD_human;GWASCAT
DAP  |  1611  |  CTD_human;GWASCAT
RTEL1-TNFRSF6B  |  100533107  |  GWASCAT
CHP1  |  11261  |  GWASCAT
CXCR1  |  3577  |  CTD_human
RNF186  |  54546  |  GWASCAT
IL18RAP  |  8807  |  CTD_human
DEFA6  |  1671  |  CTD_human
NXPE1  |  120400  |  GWASCAT
SLC39A11  |  201266  |  GWASCAT
ZFP90  |  146198  |  GWASCAT
SPHK1  |  8877  |  CTD_human
PLCL1  |  5334  |  GWASCAT
RIPK2  |  8767  |  CTD_human
CXCR2  |  3579  |  CTD_human
ARPC2  |  10109  |  CTD_human
LINC01475  |  101927324  |  GWASCAT
GNA12  |  2768  |  CTD_human;GWASCAT
MAML2  |  84441  |  GWASCAT
SLC26A3  |  1811  |  CTD_human
SFMBT1  |  51460  |  GWASCAT
IL26  |  55801  |  GWASCAT
MASP2  |  10747  |  CTD_human
MROH3P  |  647215  |  GWASCAT
ADAD1  |  132612  |  GWASCAT
NR5A2  |  2494  |  GWASCAT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:150)
132612  |  ADAD1  |  infer
177  |  AGER  |  infer
327  |  APEH  |  infer
348  |  APOE  |  infer
8927  |  BSN  |  infer
56244  |  BTNL2  |  infer
55765  |  C1orf106  |  infer
8209  |  C21orf33  |  infer
64170  |  CARD9  |  infer
54535  |  CCHCR1  |  infer
219771  |  CCNY  |  infer
4261  |  CIITA  |  infer
1192  |  CLIC1  |  infer
57511  |  COG6  |  infer
1493  |  CTLA4  |  infer
3579  |  CXCR2  |  infer
1535  |  CYBA  |  infer
1601  |  DAB2  |  infer
1611  |  DAP  |  infer
2212  |  FCGR2A  |  infer
2768  |  GNA12  |  infer
2805  |  GOT1  |  infer
2835  |  GPR12  |  infer
2859  |  GPR35  |  infer
63940  |  GPSM3  |  infer
55876  |  GSDMB  |  infer
3123  |  HLA-DRB1  |  infer
3132  |  HLA-DRB9  |  infer
3172  |  HNF4A  |  infer
3586  |  IL10  |  infer
3593  |  IL12B  |  infer
3605  |  IL17A  |  infer
112744  |  IL17F  |  infer
400935  |  IL17REL  |  infer
7850  |  IL1R2  |  infer
149233  |  IL23R  |  infer
55801  |  IL26  |  infer
3575  |  IL7R  |  infer
11172  |  INSL6  |  infer
3394  |  IRF8  |  infer
375616  |  KCP  |  infer
3912  |  LAMB1  |  infer
4046  |  LSP1  |  infer
4277  |  MICB  |  infer
4282  |  MIF  |  infer
4292  |  MLH1  |  infer
4485  |  MST1  |  infer
4524  |  MTHFR  |  infer
4548  |  MTR  |  infer
4552  |  MTRR  |  infer
9  |  NAT1  |  infer
4780  |  NFE2L2  |  infer
159296  |  NKX2-3  |  infer
10392  |  NOD1  |  infer
4855  |  NOTCH4  |  infer
1728  |  NQO1  |  infer
8204  |  NRIP1  |  infer
167826  |  OLIG3  |  infer
23252  |  OTUD3  |  infer
11315  |  PARK7  |  infer
5089  |  PBX2  |  infer
5307  |  PITX1  |  infer
5468  |  PPARG  |  infer
150962  |  PUS10  |  infer
10171  |  RCL1  |  infer
54546  |  RNF186  |  infer
728010  |  RPL35P3  |  infer
100271520  |  RPL39P28  |  infer
100271063  |  RPS14P1  |  infer
442426  |  RPS2P34  |  infer
51750  |  RTEL1  |  infer
23314  |  SATB2  |  infer
1811  |  SLC26A3  |  infer
6550  |  SLC9A3  |  infer
57154  |  SMURF1  |  infer
6648  |  SOD2  |  infer
6948  |  TCN2  |  infer
7040  |  TGFB1  |  infer
7124  |  TNF  |  infer
8764  |  TNFRSF14  |  infer
8771  |  TNFRSF6B  |  infer
9966  |  TNFSF15  |  infer
7421  |  VDR  |  infer
7422  |  VEGFA  |  infer
54361  |  WNT4  |  infer
146198  |  ZFP90  |  infer
124626  |  ZPBP2  |  infer
5243  |  ABCB1  |  infer
10109  |  ARPC2  |  infer
253559  |  CADM2  |  infer
6356  |  CCL11  |  infer
6369  |  CCL24  |  infer
10344  |  CCL26  |  infer
929  |  CD14  |  infer
999  |  CDH1  |  infer
54901  |  CDKAL1  |  infer
55722  |  CEP72  |  infer
1738  |  DLD  |  infer
1893  |  ECM1  |  infer
9103  |  FCGR2C  |  infer
8522  |  GAS7  |  infer
9340  |  GLP2R  |  infer
2961  |  GTF2E2  |  infer
3107  |  HLA-C  |  infer
3117  |  HLA-DQA1  |  infer
3119  |  HLA-DQB1  |  infer
3122  |  HLA-DRA  |  infer
3127  |  HLA-DRB5  |  infer
3176  |  HNMT  |  infer
10410  |  IFITM3  |  infer
3458  |  IFNG  |  infer
3589  |  IL11  |  infer
29949  |  IL19  |  infer
3553  |  IL1B  |  infer
3554  |  IL1R1  |  infer
3557  |  IL1RN  |  infer
50616  |  IL22  |  infer
3565  |  IL4  |  infer
3641  |  INSL4  |  infer
3717  |  JAK2  |  infer
23046  |  KIF21B  |  infer
3803  |  KIR2DL2  |  infer
3804  |  KIR2DL3  |  infer
100132285  |  KIR2DS2  |  infer
8302  |  KLRC4  |  infer
402569  |  KPNA7  |  infer
4210  |  MEFV  |  infer
100507436  |  MICA  |  infer
4312  |  MMP1  |  infer
4314  |  MMP3  |  infer
4584  |  MUC3A  |  infer
4790  |  NFKB1  |  infer
4795  |  NFKBIL1  |  infer
4842  |  NOS1  |  infer
94103  |  ORMDL3  |  infer
30814  |  PLA2G2E  |  infer
7941  |  PLA2G7  |  infer
5771  |  PTPN2  |  infer
5966  |  REL  |  infer
170591  |  S100Z  |  infer
6583  |  SLC22A4  |  infer
6584  |  SLC22A5  |  infer
6774  |  STAT3  |  infer
6778  |  STAT6  |  infer
7097  |  TLR2  |  infer
7099  |  TLR4  |  infer
7157  |  TP53  |  infer
7172  |  TPMT  |  infer
11076  |  TPPP  |  infer
219333  |  USP12  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:719)
100302690  |  DLG2-AS1  |  DISEASES
2288  |  FKBP4  |  DISEASES
6542  |  SLC7A2  |  DISEASES
10344  |  CCL26  |  DISEASES
6376  |  CX3CL1  |  DISEASES
8993  |  PGLYRP1  |  DISEASES
54860  |  MS4A12  |  DISEASES
5662  |  PSD  |  DISEASES
9744  |  ACAP1  |  DISEASES
3385  |  ICAM3  |  DISEASES
634  |  CEACAM1  |  DISEASES
7132  |  TNFRSF1A  |  DISEASES
602  |  BCL3  |  DISEASES
8974  |  P4HA2  |  DISEASES
6694  |  SPP2  |  DISEASES
3028  |  HSD17B10  |  DISEASES
3566  |  IL4R  |  DISEASES
4804  |  NGFR  |  DISEASES
30009  |  TBX21  |  DISEASES
1361  |  CPB2  |  DISEASES
51208  |  CLDN18  |  DISEASES
4680  |  CEACAM6  |  DISEASES
23645  |  PPP1R15A  |  DISEASES
6583  |  SLC22A4  |  DISEASES
2734  |  GLG1  |  DISEASES
4616  |  GADD45B  |  DISEASES
8174  |  MADCAM1  |  DISEASES
4282  |  MIF  |  DISEASES
3956  |  LGALS1  |  DISEASES
7494  |  XBP1  |  DISEASES
3162  |  HMOX1  |  DISEASES
158  |  ADSL  |  DISEASES
3560  |  IL2RB  |  DISEASES
1511  |  CTSG  |  DISEASES
3002  |  GZMB  |  DISEASES
26499  |  PLEK2  |  DISEASES
1113  |  CHGA  |  DISEASES
4792  |  NFKBIA  |  DISEASES
1917  |  EEF1A2  |  DISEASES
55612  |  FERMT1  |  DISEASES
55916  |  NXT2  |  DISEASES
7076  |  TIMP1  |  DISEASES
479  |  ATP12A  |  DISEASES
4313  |  MMP2  |  DISEASES
6361  |  CCL17  |  DISEASES
4210  |  MEFV  |  DISEASES
343  |  AQP8  |  DISEASES
123263  |  MTFMT  |  DISEASES
8767  |  RIPK2  |  DISEASES
10404  |  CPQ  |  DISEASES
1666  |  DECR1  |  DISEASES
6422  |  SFRP1  |  DISEASES
27121  |  DKK4  |  DISEASES
8797  |  TNFRSF10A  |  DISEASES
8857  |  FCGBP  |  DISEASES
56729  |  RETN  |  DISEASES
7040  |  TGFB1  |  DISEASES
973  |  CD79A  |  DISEASES
1048  |  CEACAM5  |  DISEASES
57817  |  HAMP  |  DISEASES
10061  |  ABCF2  |  DISEASES
3082  |  HGF  |  DISEASES
3912  |  LAMB1  |  DISEASES
10392  |  NOD1  |  DISEASES
6369  |  CCL24  |  DISEASES
1577  |  CYP3A5  |  DISEASES
5054  |  SERPINE1  |  DISEASES
56913  |  C1GALT1  |  DISEASES
5919  |  RARRES2  |  DISEASES
6348  |  CCL3  |  DISEASES
4353  |  MPO  |  DISEASES
5026  |  P2RX5  |  DISEASES
8288  |  EPX  |  DISEASES
1440  |  CSF3  |  DISEASES
6347  |  CCL2  |  DISEASES
952  |  CD38  |  DISEASES
6372  |  CXCL6  |  DISEASES
4790  |  NFKB1  |  DISEASES
3558  |  IL2  |  DISEASES
3312  |  HSPA8  |  DISEASES
595  |  CCND1  |  DISEASES
24145  |  PANX1  |  DISEASES
3587  |  IL10RA  |  DISEASES
329  |  BIRC2  |  DISEASES
969  |  CD69  |  DISEASES
51561  |  IL23A  |  DISEASES
55801  |  IL26  |  DISEASES
3458  |  IFNG  |  DISEASES
55907  |  CMAS  |  DISEASES
3820  |  KLRB1  |  DISEASES
80736  |  SLC44A4  |  DISEASES
11329  |  STK38  |  DISEASES
4224  |  MEP1A  |  DISEASES
1611  |  DAP  |  DISEASES
3565  |  IL4  |  DISEASES
3567  |  IL5  |  DISEASES
2908  |  NR3C1  |  DISEASES
4292  |  MLH1  |  DISEASES
4436  |  MSH2  |  DISEASES
6556  |  SLC11A1  |  DISEASES
92840  |  REEP6  |  DISEASES
5967  |  REG1A  |  DISEASES
4759  |  NEU2  |  DISEASES
3554  |  IL1R1  |  DISEASES
9173  |  IL1RL1  |  DISEASES
8809  |  IL18R1  |  DISEASES
6549  |  SLC9A2  |  DISEASES
566  |  AZU1  |  DISEASES
5657  |  PRTN3  |  DISEASES
2956  |  MSH6  |  DISEASES
2023  |  ENO1  |  DISEASES
6402  |  SELL  |  DISEASES
7276  |  TTR  |  DISEASES
27145  |  FILIP1  |  DISEASES
7128  |  TNFAIP3  |  DISEASES
80306  |  MED28  |  DISEASES
23307  |  FKBP15  |  DISEASES
54812  |  AFTPH  |  DISEASES
847  |  CAT  |  DISEASES
35  |  ACADS  |  DISEASES
3598  |  IL13RA2  |  DISEASES
5266  |  PI3  |  DISEASES
6431  |  SRSF6  |  DISEASES
1088  |  CEACAM8  |  DISEASES
54210  |  TREM1  |  DISEASES
1026  |  CDKN1A  |  DISEASES
6584  |  SLC22A5  |  DISEASES
3659  |  IRF1  |  DISEASES
30833  |  NT5C  |  DISEASES
718  |  C3  |  DISEASES
22913  |  RALY  |  DISEASES
2867  |  FFAR2  |  DISEASES
1236  |  CCR7  |  DISEASES
2791  |  GNG11  |  DISEASES
2952  |  GSTT1  |  DISEASES
7263  |  TST  |  DISEASES
22933  |  SIRT2  |  DISEASES
7166  |  TPH1  |  DISEASES
968  |  CD68  |  DISEASES
79148  |  MMP28  |  DISEASES
6351  |  CCL4  |  DISEASES
1215  |  CMA1  |  DISEASES
9459  |  ARHGEF6  |  DISEASES
3630  |  INS  |  DISEASES
11027  |  LILRA2  |  DISEASES
120400  |  NXPE1  |  DISEASES
4277  |  MICB  |  DISEASES
3958  |  LGALS3  |  DISEASES
6382  |  SDC1  |  DISEASES
1401  |  CRP  |  DISEASES
1116  |  CHI3L1  |  DISEASES
4922  |  NTS  |  DISEASES
3845  |  KRAS  |  DISEASES
759  |  CA1  |  DISEASES
83998  |  REG4  |  DISEASES
301  |  ANXA1  |  DISEASES
9038  |  TAAR5  |  DISEASES
3569  |  IL6  |  DISEASES
3557  |  IL1RN  |  DISEASES
5004  |  ORM1  |  DISEASES
6366  |  CCL21  |  DISEASES
7097  |  TLR2  |  DISEASES
10068  |  IL18BP  |  DISEASES
4316  |  MMP7  |  DISEASES
109  |  ADCY3  |  DISEASES
2984  |  GUCY2C  |  DISEASES
11213  |  IRAK3  |  DISEASES
4069  |  LYZ  |  DISEASES
29121  |  CLEC2D  |  DISEASES
7450  |  VWF  |  DISEASES
7188  |  TRAF5  |  DISEASES
1829  |  DSG2  |  DISEASES
6532  |  SLC6A4  |  DISEASES
999  |  CDH1  |  DISEASES
23197  |  FAF2  |  DISEASES
54825  |  CDHR2  |  DISEASES
4092  |  SMAD7  |  DISEASES
4087  |  SMAD2  |  DISEASES
9739  |  SETD1A  |  DISEASES
79792  |  GSDMD  |  DISEASES
495  |  ATP4A  |  DISEASES
9139  |  CBFA2T2  |  DISEASES
23031  |  MAST3  |  DISEASES
671  |  BPI  |  DISEASES
25939  |  SAMHD1  |  DISEASES
3783  |  KCNN4  |  DISEASES
5595  |  MAPK3  |  DISEASES
3682  |  ITGAE  |  DISEASES
1  |  A1BG  |  DISEASES
23523  |  CABIN1  |  DISEASES
27178  |  IL37  |  DISEASES
3552  |  IL1A  |  DISEASES
3553  |  IL1B  |  DISEASES
330  |  BIRC3  |  DISEASES
1991  |  ELANE  |  DISEASES
6403  |  SELP  |  DISEASES
3574  |  IL7  |  DISEASES
943  |  TNFRSF8  |  DISEASES
6548  |  SLC9A1  |  DISEASES
3938  |  LCT  |  DISEASES
8540  |  AGPS  |  DISEASES
941  |  CD80  |  DISEASES
8808  |  IL1RL2  |  DISEASES
374  |  AREG  |  DISEASES
59067  |  IL21  |  DISEASES
2247  |  FGF2  |  DISEASES
84162  |  KIAA1109  |  DISEASES
3589  |  IL11  |  DISEASES
6774  |  STAT3  |  DISEASES
2255  |  FGF10  |  DISEASES
5443  |  POMC  |  DISEASES
7297  |  TYK2  |  DISEASES
3383  |  ICAM1  |  DISEASES
6550  |  SLC9A3  |  DISEASES
3827  |  KNG1  |  DISEASES
1950  |  EGF  |  DISEASES
7416  |  VDAC1  |  DISEASES
320  |  APBA1  |  DISEASES
286  |  ANK1  |  DISEASES
5243  |  ABCB1  |  DISEASES
939  |  CD27  |  DISEASES
3695  |  ITGB7  |  DISEASES
2252  |  FGF7  |  DISEASES
3687  |  ITGAX  |  DISEASES
8996  |  NOL3  |  DISEASES
7157  |  TP53  |  DISEASES
55527  |  FEM1A  |  DISEASES
207  |  AKT1  |  DISEASES
11006  |  LILRB4  |  DISEASES
58985  |  IL22RA1  |  DISEASES
2212  |  FCGR2A  |  DISEASES
8446  |  DUSP11  |  DISEASES
23671  |  TMEFF2  |  DISEASES
90226  |  UCN2  |  DISEASES
3001  |  GZMA  |  DISEASES
3578  |  IL9  |  DISEASES
2768  |  GNA12  |  DISEASES
1392  |  CRH  |  DISEASES
3439  |  IFNA1  |  DISEASES
3934  |  LCN2  |  DISEASES
4851  |  NOTCH1  |  DISEASES
133  |  ADM  |  DISEASES
5058  |  PAK1  |  DISEASES
6768  |  ST14  |  DISEASES
932  |  MS4A3  |  DISEASES
90952  |  ESAM  |  DISEASES
4319  |  MMP10  |  DISEASES
3606  |  IL18  |  DISEASES
196463  |  PLBD2  |  DISEASES
112936  |  VPS26B  |  DISEASES
7082  |  TJP1  |  DISEASES
7292  |  TNFSF4  |  DISEASES
5741  |  PTH  |  DISEASES
219333  |  USP12  |  DISEASES
347732  |  CATSPER3  |  DISEASES
3081  |  HGD  |  DISEASES
23643  |  LY96  |  DISEASES
29761  |  USP25  |  DISEASES
10  |  NAT2  |  DISEASES
10563  |  CXCL13  |  DISEASES
9073  |  CLDN8  |  DISEASES
6750  |  SST  |  DISEASES
123803  |  NTAN1  |  DISEASES
5468  |  PPARG  |  DISEASES
146433  |  IL34  |  DISEASES
171586  |  ABHD3  |  DISEASES
909  |  CD1A  |  DISEASES
50848  |  F11R  |  DISEASES
3588  |  IL10RB  |  DISEASES
6781  |  STC1  |  DISEASES
114771  |  PGLYRP3  |  DISEASES
374739  |  TEPP  |  DISEASES
5681  |  PSKH1  |  DISEASES
7032  |  TFF2  |  DISEASES
7031  |  TFF1  |  DISEASES
6285  |  S100B  |  DISEASES
729230  |  CCR2  |  DISEASES
1234  |  CCR5  |  DISEASES
150223  |  YDJC  |  DISEASES
114757  |  CYGB  |  DISEASES
6352  |  CCL5  |  DISEASES
6154  |  RPL26  |  DISEASES
7412  |  VCAM1  |  DISEASES
2215  |  FCGR3B  |  DISEASES
5966  |  REL  |  DISEASES
151354  |  FAM84A  |  DISEASES
27306  |  HPGDS  |  DISEASES
248  |  ALPI  |  DISEASES
3577  |  CXCR1  |  DISEASES
10109  |  ARPC2  |  DISEASES
84666  |  RETNLB  |  DISEASES
213  |  ALB  |  DISEASES
6374  |  CXCL5  |  DISEASES
5473  |  PPBP  |  DISEASES
5196  |  PF4  |  DISEASES
7349  |  UCN  |  DISEASES
4486  |  MST1R  |  DISEASES
308  |  ANXA5  |  DISEASES
132612  |  ADAD1  |  DISEASES
3248  |  HPGD  |  DISEASES
3600  |  IL15  |  DISEASES
2150  |  F2RL1  |  DISEASES
7098  |  TLR3  |  DISEASES
27242  |  TNFRSF21  |  DISEASES
1437  |  CSF2  |  DISEASES
221955  |  DAGLB  |  DISEASES
10569  |  SLU7  |  DISEASES
4982  |  TNFRSF11B  |  DISEASES
1671  |  DEFA6  |  DISEASES
1672  |  DEFB1  |  DISEASES
4783  |  NFIL3  |  DISEASES
2350  |  FOLR2  |  DISEASES
5267  |  SERPINA4  |  DISEASES
79158  |  GNPTAB  |  DISEASES
5896  |  RAG1  |  DISEASES
338339  |  CLEC4D  |  DISEASES
4314  |  MMP3  |  DISEASES
6778  |  STAT6  |  DISEASES
64127  |  NOD2  |  DISEASES
3906  |  LALBA  |  DISEASES
94274  |  PPP1R14A  |  DISEASES
64073  |  C19orf33  |  DISEASES
3816  |  KLK1  |  DISEASES
474  |  ATOH1  |  DISEASES
6356  |  CCL11  |  DISEASES
6037  |  RNASE3  |  DISEASES
598  |  BCL2L1  |  DISEASES
3479  |  IGF1  |  DISEASES
5734  |  PTGER4  |  DISEASES
3603  |  IL16  |  DISEASES
3308  |  HSPA4  |  DISEASES
3689  |  ITGB2  |  DISEASES
6036  |  RNASE2  |  DISEASES
3688  |  ITGB1  |  DISEASES
51181  |  DCXR  |  DISEASES
6869  |  TACR1  |  DISEASES
1673  |  DEFB4A  |  DISEASES
1493  |  CTLA4  |  DISEASES
5068  |  REG3A  |  DISEASES
94103  |  ORMDL3  |  DISEASES
3596  |  IL13  |  DISEASES
1901  |  S1PR1  |  DISEASES
2525  |  FUT3  |  DISEASES
3627  |  CXCL10  |  DISEASES
3575  |  IL7R  |  DISEASES
2353  |  FOS  |  DISEASES
56246  |  MRAP  |  DISEASES
654483  |  BOLA2B  |  DISEASES
6373  |  CXCL11  |  DISEASES
26145  |  IRF2BP1  |  DISEASES
112464  |  PRKCDBP  |  DISEASES
9435  |  CHST2  |  DISEASES
197259  |  MLKL  |  DISEASES
2147  |  F2  |  DISEASES
29984  |  RHOD  |  DISEASES
5897  |  RAG2  |  DISEASES
1540  |  CYLD  |  DISEASES
5340  |  PLG  |  DISEASES
5031  |  P2RY6  |  DISEASES
3265  |  HRAS  |  DISEASES
947  |  CD34  |  DISEASES
51172  |  NAGPA  |  DISEASES
836  |  CASP3  |  DISEASES
2944  |  GSTM1  |  DISEASES
132112  |  RTP1  |  DISEASES
5771  |  PTPN2  |  DISEASES
7172  |  TPMT  |  DISEASES
3952  |  LEP  |  DISEASES
245928  |  DEFB114  |  DISEASES
3172  |  HNF4A  |  DISEASES
9448  |  MAP4K4  |  DISEASES
221960  |  CCZ1B  |  DISEASES
54472  |  TOLLIP  |  DISEASES
53832  |  IL20RA  |  DISEASES
130367  |  SGPP2  |  DISEASES
30835  |  CD209  |  DISEASES
1604  |  CD55  |  DISEASES
144811  |  LACC1  |  DISEASES
2529  |  FUT7  |  DISEASES
4684  |  NCAM1  |  DISEASES
8630  |  HSD17B6  |  DISEASES
54984  |  PINX1  |  DISEASES
3579  |  CXCR2  |  DISEASES
405753  |  DUOXA2  |  DISEASES
1728  |  NQO1  |  DISEASES
80381  |  CD276  |  DISEASES
170591  |  S100Z  |  DISEASES
10938  |  EHD1  |  DISEASES
9370  |  ADIPOQ  |  DISEASES
140596  |  DEFB104A  |  DISEASES
23765  |  IL17RA  |  DISEASES
414325  |  DEFB103A  |  DISEASES
6863  |  TAC1  |  DISEASES
149233  |  IL23R  |  DISEASES
256815  |  C10orf67  |  DISEASES
503618  |  DEFB104B  |  DISEASES
3039  |  HBA1  |  DISEASES
246330  |  PELI3  |  DISEASES
4312  |  MMP1  |  DISEASES
153562  |  MARVELD2  |  DISEASES
2  |  A2M  |  DISEASES
55894  |  DEFB103B  |  DISEASES
1555  |  CYP2B6  |  DISEASES
9235  |  IL32  |  DISEASES
4584  |  MUC3A  |  DISEASES
64332  |  NFKBIZ  |  DISEASES
51622  |  CCZ1  |  DISEASES
9919  |  SEC16A  |  DISEASES
6097  |  RORC  |  DISEASES
4843  |  NOS2  |  DISEASES
3563  |  IL3RA  |  DISEASES
23101  |  MCF2L2  |  DISEASES
53833  |  IL20RB  |  DISEASES
10293  |  TRAIP  |  DISEASES
1668  |  DEFA3  |  DISEASES
50616  |  IL22  |  DISEASES
8651  |  SOCS1  |  DISEASES
1670  |  DEFA5  |  DISEASES
8624  |  PSMG1  |  DISEASES
9021  |  SOCS3  |  DISEASES
54014  |  BRWD1  |  DISEASES
8519  |  IFITM1  |  DISEASES
7850  |  IL1R2  |  DISEASES
552900  |  BOLA2  |  DISEASES
2520  |  GAST  |  DISEASES
6401  |  SELE  |  DISEASES
942  |  CD86  |  DISEASES
124460  |  SNX20  |  DISEASES
339221  |  ENPP7  |  DISEASES
11251  |  PTGDR2  |  DISEASES
59307  |  SIGIRR  |  DISEASES
682  |  BSG  |  DISEASES
2152  |  F3  |  DISEASES
57178  |  ZMIZ1  |  DISEASES
51738  |  GHRL  |  DISEASES
8856  |  NR1I2  |  DISEASES
9075  |  CLDN2  |  DISEASES
1103  |  CHAT  |  DISEASES
114548  |  NLRP3  |  DISEASES
112744  |  IL17F  |  DISEASES
7189  |  TRAF6  |  DISEASES
1576  |  CYP3A4  |  DISEASES
3572  |  IL6ST  |  DISEASES
23562  |  CLDN14  |  DISEASES
3117  |  HLA-DQA1  |  DISEASES
85480  |  TSLP  |  DISEASES
3329  |  HSPD1  |  DISEASES
7100  |  TLR5  |  DISEASES
4089  |  SMAD4  |  DISEASES
6590  |  SLPI  |  DISEASES
2272  |  FHIT  |  DISEASES
3804  |  KIR2DL3  |  DISEASES
1364  |  CLDN4  |  DISEASES
400935  |  IL17REL  |  DISEASES
921  |  CD5  |  DISEASES
159296  |  NKX2-3  |  DISEASES
29949  |  IL19  |  DISEASES
3146  |  HMGB1  |  DISEASES
3716  |  JAK1  |  DISEASES
864  |  RUNX3  |  DISEASES
3605  |  IL17A  |  DISEASES
7332  |  UBE2L3  |  DISEASES
1499  |  CTNNB1  |  DISEASES
199953  |  TMEM201  |  DISEASES
729967  |  MORN2  |  DISEASES
1861  |  TOR1A  |  DISEASES
1811  |  SLC26A3  |  DISEASES
114770  |  PGLYRP2  |  DISEASES
9863  |  MAGI2  |  DISEASES
65251  |  ZNF649  |  DISEASES
2070  |  EYA4  |  DISEASES
100506658  |  OCLN  |  DISEASES
79710  |  MORC4  |  DISEASES
1785  |  DNM2  |  DISEASES
355  |  FAS  |  DISEASES
5265  |  SERPINA1  |  DISEASES
10656  |  KHDRBS3  |  DISEASES
3240  |  HP  |  DISEASES
3476  |  IGBP1  |  DISEASES
5284  |  PIGR  |  DISEASES
6288  |  SAA1  |  DISEASES
3683  |  ITGAL  |  DISEASES
246778  |  IL27  |  DISEASES
2980  |  GUCA2A  |  DISEASES
4745  |  NELL1  |  DISEASES
3663  |  IRF5  |  DISEASES
5802  |  PTPRS  |  DISEASES
60  |  ACTB  |  DISEASES
10803  |  CCR9  |  DISEASES
6714  |  SRC  |  DISEASES
63939  |  FAM217B  |  DISEASES
1524  |  CX3CR1  |  DISEASES
6775  |  STAT4  |  DISEASES
2526  |  FUT4  |  DISEASES
6364  |  CCL20  |  DISEASES
11194  |  ABCB8  |  DISEASES
9332  |  CD163  |  DISEASES
1995  |  ELAVL3  |  DISEASES
57115  |  PGLYRP4  |  DISEASES
1999  |  ELF3  |  DISEASES
26191  |  PTPN22  |  DISEASES
3123  |  HLA-DRB1  |  DISEASES
5697  |  PYY  |  DISEASES
7037  |  TFRC  |  DISEASES
4638  |  MYLK  |  DISEASES
11177  |  BAZ1A  |  DISEASES
55876  |  GSDMB  |  DISEASES
5599  |  MAPK8  |  DISEASES
54106  |  TLR9  |  DISEASES
2530  |  FUT8  |  DISEASES
6772  |  STAT1  |  DISEASES
7855  |  FZD5  |  DISEASES
5742  |  PTGS1  |  DISEASES
22904  |  SBNO2  |  DISEASES
4283  |  CXCL9  |  DISEASES
7096  |  TLR1  |  DISEASES
7052  |  TGM2  |  DISEASES
2058  |  EPRS  |  DISEASES
1380  |  CR2  |  DISEASES
7432  |  VIP  |  DISEASES
55765  |  C1orf106  |  DISEASES
5788  |  PTPRC  |  DISEASES
5743  |  PTGS2  |  DISEASES
57710  |  KIAA1614  |  DISEASES
51696  |  HECA  |  DISEASES
462  |  SERPINC1  |  DISEASES
356  |  FASLG  |  DISEASES
2214  |  FCGR3A  |  DISEASES
1490  |  CTGF  |  DISEASES
910  |  CD1B  |  DISEASES
911  |  CD1C  |  DISEASES
912  |  CD1D  |  DISEASES
632  |  BGLAP  |  DISEASES
4582  |  MUC1  |  DISEASES
3298  |  HSF2  |  DISEASES
7170  |  TPM3  |  DISEASES
441168  |  FAM26F  |  DISEASES
256536  |  TCERG1L  |  DISEASES
6283  |  S100A12  |  DISEASES
6280  |  S100A9  |  DISEASES
50624  |  CUZD1  |  DISEASES
1755  |  DMBT1  |  DISEASES
1893  |  ECM1  |  DISEASES
639  |  PRDM1  |  DISEASES
2209  |  FCGR1A  |  DISEASES
11085  |  ADAM30  |  DISEASES
914  |  CD2  |  DISEASES
5016  |  OVGP1  |  DISEASES
3654  |  IRAK1  |  DISEASES
8771  |  TNFRSF6B  |  DISEASES
1137  |  CHRNA4  |  DISEASES
959  |  CD40LG  |  DISEASES
116154  |  PHACTR3  |  DISEASES
55225  |  RAVER2  |  DISEASES
1791  |  DNTT  |  DISEASES
953  |  ENTPD1  |  DISEASES
3725  |  JUN  |  DISEASES
64170  |  CARD9  |  DISEASES
11254  |  SLC6A14  |  DISEASES
7422  |  VEGFA  |  DISEASES
266675  |  BEST4  |  DISEASES
958  |  CD40  |  DISEASES
4318  |  MMP9  |  DISEASES
9231  |  DLG5  |  DISEASES
2981  |  GUCA2B  |  DISEASES
2491  |  CENPI  |  DISEASES
27035  |  NOX1  |  DISEASES
6865  |  TACR2  |  DISEASES
2833  |  CXCR3  |  DISEASES
54952  |  TRNAU1AP  |  DISEASES
7099  |  TLR4  |  DISEASES
9966  |  TNFSF15  |  DISEASES
164091  |  PAQR7  |  DISEASES
240  |  ALOX5  |  DISEASES
219771  |  CCNY  |  DISEASES
56288  |  PARD3  |  DISEASES
5535  |  PPP3R2  |  DISEASES
3127  |  HLA-DRB5  |  DISEASES
30814  |  PLA2G2E  |  DISEASES
23252  |  OTUD3  |  DISEASES
54546  |  RNF186  |  DISEASES
7916  |  PRRC2A  |  DISEASES
4795  |  NFKBIL1  |  DISEASES
50943  |  FOXP3  |  DISEASES
100507436  |  MICA  |  DISEASES
7133  |  TNFRSF1B  |  DISEASES
10211  |  FLOT1  |  DISEASES
414328  |  IDNK  |  DISEASES
6564  |  SLC15A1  |  DISEASES
4524  |  MTHFR  |  DISEASES
56658  |  TRIM39  |  DISEASES
3105  |  HLA-A  |  DISEASES
10257  |  ABCC4  |  DISEASES
7056  |  THBD  |  DISEASES
81696  |  OR5V1  |  DISEASES
8718  |  TNFRSF25  |  DISEASES
6520  |  SLC3A2  |  DISEASES
100505591  |  LRRC3C  |  DISEASES
4609  |  MYC  |  DISEASES
9445  |  ITM2B  |  DISEASES
6354  |  CCL7  |  DISEASES
9308  |  CD83  |  DISEASES
2625  |  GATA3  |  DISEASES
11193  |  WBP4  |  DISEASES
7905  |  REEP5  |  DISEASES
27290  |  SPINK4  |  DISEASES
3559  |  IL2RA  |  DISEASES
7010  |  TEK  |  DISEASES
3704  |  ITPA  |  DISEASES
3456  |  IFNB1  |  DISEASES
1045  |  CDX2  |  DISEASES
2813  |  GP2  |  DISEASES
90865  |  IL33  |  DISEASES
2835  |  GPR12  |  DISEASES
3717  |  JAK2  |  DISEASES
10333  |  TLR6  |  DISEASES
23600  |  AMACR  |  DISEASES
9037  |  SEMA5A  |  DISEASES
5799  |  PTPRN2  |  DISEASES
727936  |  GXYLT2  |  DISEASES
54476  |  RNF216  |  DISEASES
6370  |  CCL25  |  DISEASES
2524  |  FUT2  |  DISEASES
22900  |  CARD8  |  DISEASES
55054  |  ATG16L1  |  DISEASES
65057  |  ACD  |  DISEASES
56954  |  NIT2  |  DISEASES
84299  |  MIEN1  |  DISEASES
65009  |  NDRG4  |  DISEASES
9560  |  CCL4L2  |  DISEASES
6355  |  CCL8  |  DISEASES
374786  |  EFCAB5  |  DISEASES
1365  |  CLDN3  |  DISEASES
3122  |  HLA-DRA  |  DISEASES
56624  |  ASAH2  |  DISEASES
2919  |  CXCL1  |  DISEASES
6387  |  CXCL12  |  DISEASES
3174  |  HNF4G  |  DISEASES
4689  |  NCF4  |  DISEASES
4650  |  MYO9B  |  DISEASES
594857  |  NPS  |  DISEASES
146198  |  ZFP90  |  DISEASES
1394  |  CRHR1  |  DISEASES
80125  |  CCDC33  |  DISEASES
7442  |  TRPV1  |  DISEASES
10410  |  IFITM3  |  DISEASES
3803  |  KIR2DL2  |  DISEASES
24144  |  TFIP11  |  DISEASES
5970  |  RELA  |  DISEASES
23308  |  ICOSLG  |  DISEASES
7122  |  CLDN5  |  DISEASES
221938  |  MMD2  |  DISEASES
63027  |  SLC22A23  |  DISEASES
7018  |  TF  |  DISEASES
7852  |  CXCR4  |  DISEASES
22891  |  ZNF365  |  DISEASES
9354  |  UBE4A  |  DISEASES
2641  |  GCG  |  DISEASES
3384  |  ICAM2  |  DISEASES
4295  |  MLN  |  DISEASES
3718  |  JAK3  |  DISEASES
1029  |  CDKN2A  |  DISEASES
283463  |  MUC19  |  DISEASES
3430  |  IFI35  |  DISEASES
22893  |  BAHD1  |  DISEASES
10107  |  TRIM10  |  DISEASES
960  |  CD44  |  DISEASES
7124  |  TNF  |  DISEASES
7866  |  IFRD2  |  DISEASES
3106  |  HLA-B  |  DISEASES
64167  |  ERAP2  |  DISEASES
4615  |  MYD88  |  DISEASES
4049  |  LTA  |  DISEASES
25822  |  DNAJB5  |  DISEASES
388372  |  CCL4L1  |  DISEASES
4588  |  MUC6  |  DISEASES
54726  |  OTUD4  |  DISEASES
408  |  ARRB1  |  DISEASES
834  |  CASP1  |  DISEASES
4050  |  LTB  |  DISEASES
3586  |  IL10  |  DISEASES
4485  |  MST1  |  DISEASES
4583  |  MUC2  |  DISEASES
2859  |  GPR35  |  DISEASES
629  |  CFB  |  DISEASES
4585  |  MUC4  |  DISEASES
374308  |  PTCHD3  |  DISEASES
79012  |  CAMKV  |  DISEASES
111  |  ADCY5  |  DISEASES
56244  |  BTNL2  |  DISEASES
5542  |  PRB1  |  DISEASES
9353  |  SLIT2  |  DISEASES
51428  |  DDX41  |  DISEASES
201191  |  SAMD14  |  DISEASES
2920  |  CXCL2  |  DISEASES
345611  |  IRGM  |  DISEASES
7033  |  TFF3  |  DISEASES
59351  |  PBOV1  |  DISEASES
4586  |  MUC5AC  |  DISEASES
727897  |  MUC5B  |  DISEASES
930  |  CD19  |  DISEASES
9414  |  TJP2  |  DISEASES
1232  |  CCR3  |  DISEASES
3684  |  ITGAM  |  DISEASES
10071  |  MUC12  |  DISEASES
9  |  NAT1  |  DISEASES
339145  |  FAM92B  |  DISEASES
7421  |  VDR  |  DISEASES
8742  |  TNFSF12  |  DISEASES
567  |  B2M  |  DISEASES
400410  |  ST20  |  DISEASES
100885789  |  IFNG-AS1  |  DISEASES
100287879  |  LINC00994  |  DISEASES
348120  |  LINC01193  |  DISEASES
619383  |  SCARNA9  |  DISEASES
27099  |  SND1-IT1  |  DISEASES
677803  |  SNORA15  |  DISEASES
26810  |  SNORD41  |  DISEASES
652995  |  UCA1  |  DISEASES
Locus(Waiting for update.)
Disease ID 101
Disease ulcerative colitis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:133)
HP:0002583  |  Colitis  |  22
HP:0002664  |  Neoplasia  |  18
HP:0100280  |  Morbus Crohn  |  15
HP:0000999  |  Pyoderma  |  14
HP:0003003  |  Colon cancer  |  11
HP:0002665  |  Lymphoma  |  9
HP:0001903  |  Anemia  |  9
HP:0002633  |  Vasculitis  |  8
HP:0030151  |  Cholangitis  |  8
HP:0002014  |  Diarrhea  |  7
HP:0004936  |  Blood clot in vein  |  6
HP:0001733  |  Pancreatic inflammation  |  6
HP:0001890  |  Autoimmune hemolytic anemia  |  5
HP:0000979  |  Purpura  |  5
HP:0001878  |  Haemolytic anaemia  |  5
HP:0030731  |  Carcinoma  |  5
HP:0012531  |  Pain  |  5
HP:0002090  |  Pneumonia  |  5
HP:0001945  |  Fever  |  4
HP:0002573  |  Bloody diarrhea  |  4
HP:0012089  |  Arteritis  |  4
HP:0001369  |  Arthritis  |  4
HP:0000716  |  Depression  |  4
HP:0005305  |  Cerebral vein thrombosis  |  4
HP:0001907  |  Thromboembolic disease  |  4
HP:0100806  |  Sepsis  |  4
HP:0005318  |  Cerebral vasculitis  |  3
HP:0012819  |  Myocarditis  |  3
HP:0012189  |  Hodgkin disease  |  3
HP:0001824  |  Weight loss  |  3
HP:0002027  |  Abdominal pain  |  3
HP:0002955  |  Granulomatosis  |  3
HP:0000100  |  Nephrosis  |  2
HP:0100584  |  Endocarditis  |  2
HP:0001735  |  Acute pancreatitis  |  2
HP:0002639  |  Budd-Chiari syndrome  |  2
HP:0002960  |  Autoimmune condition  |  2
HP:0010447  |  Fistula in ano  |  2
HP:0000112  |  Nephropathy  |  2
HP:0000123  |  Nephritis  |  2
HP:0006689  |  Bacterial endocarditis  |  2
HP:0001915  |  Aplastic anemia  |  2
HP:0002621  |  Atherosclerosis  |  2
HP:0001297  |  Cerebral vascular events  |  2
HP:0011950  |  Bronchiolitis  |  2
HP:0011945  |  Cryptogenic organizing pneumonia  |  2
HP:0001370  |  Rheumatoid arthritis  |  2
HP:0001970  |  Interstitial nephritis  |  2
HP:0000554  |  Uveitis  |  2
HP:0004420  |  Arterial thrombosis  |  2
HP:0002097  |  Pulmonary emphysema  |  2
HP:0012115  |  Liver inflammation  |  2
HP:0002098  |  Respiratory distress  |  2
HP:0002251  |  Hirschsprung megacolon  |  2
HP:0000819  |  Diabetes mellitus  |  2
HP:0100749  |  Thoracic pain  |  2
HP:0012701  |  Bowel urgency  |  1
HP:0006530  |  Interstitial lung disease  |  1
HP:0001658  |  Myocardial infarction  |  1
HP:0100614  |  Muscle inflammation  |  1
HP:0002133  |  Status epilepticus  |  1
HP:0001289  |  Confusion  |  1
HP:0030838  |  Hip pain  |  1
HP:0008200  |  Primary hyperparathyroidism  |  1
HP:0002584  |  Intestinal hemorrhage  |  1
HP:0004387  |  Enterocolitis  |  1
HP:0012191  |  B-cell lymphoma  |  1
HP:0030153  |  Cholangiocarcinoma  |  1
HP:0011946  |  Constrictive bronchiolitis  |  1
HP:0002908  |  Conjugated hyperbilirubinemia  |  1
HP:0004395  |  Malnutrition  |  1
HP:0001909  |  Leukemia  |  1
HP:0100726  |  Kaposi's sarcoma  |  1
HP:0000843  |  Hyperparathyroidism  |  1
HP:0100281  |  Chronic colitis  |  1
HP:0000787  |  Renal calculi  |  1
HP:0002383  |  Encephalitis  |  1
HP:0001123  |  Partial loss of field of vision  |  1
HP:0002028  |  Chronic diarrhea  |  1
HP:0001695  |  Cardiac arrest  |  1
HP:0000739  |  Anxiety  |  1
HP:0001081  |  Gallstones  |  1
HP:0012393  |  Allergy  |  1
HP:0012126  |  Gastric cancer  |  1
HP:0005523  |  Lymphoproliferative disorder  |  1
HP:0000099  |  Glomerular nephritis  |  1
HP:0011944  |  Small vessel vasculitis  |  1
HP:0001061  |  Acne  |  1
HP:0012735  |  Coughing  |  1
HP:0200063  |  Colorectal polyposis  |  1
HP:0012122  |  Anterior uveitis  |  1
HP:0012424  |  Chorioretinitis  |  1
HP:0100507  |  Folate deficiency  |  1
HP:0001048  |  Cavernous angioma  |  1
HP:0006280  |  Chronic pancreas inflammation  |  1
HP:0100658  |  Bacterial infection of skin  |  1
HP:0010566  |  Hamartoma  |  1
HP:0005901  |  Chronic recurrent multifocal osteomyelitis  |  1
HP:0005506  |  Chronic myeloid leukemia  |  1
HP:0004789  |  Lactose intolerance  |  1
HP:0002576  |  Intussusception  |  1
HP:0100896  |  Rectal polyps  |  1
HP:0002863  |  Myelodysplastic syndrome  |  1
HP:0011034  |  Amyloid disease  |  1
HP:0005110  |  Atrial fibrillation  |  1
HP:0002860  |  Squamous cell carcinoma  |  1
HP:0001067  |  Neurofibromas  |  1
HP:0100243  |  Leiomyosarcoma  |  1
HP:0012490  |  Inflammation of fat tissue  |  1
HP:0100512  |  Vitamin D deficiency  |  1
HP:0001677  |  Coronary artery disease  |  1
HP:0030242  |  Blood clot in portal vein  |  1
HP:0100242  |  Sarcoma  |  1
HP:0001919  |  Acute renal failure  |  1
HP:0002326  |  TIA  |  1
HP:0005200  |  Retroperitoneal fibrosis  |  1
HP:0002754  |  Bone infection  |  1
HP:0200029  |  Cutaneous vasculitis  |  1
HP:0012636  |  Retinal vein occlusion  |  1
HP:0005263  |  Gastritis  |  1
HP:0000078  |  Genital abnormalities  |  1
HP:0002239  |  Gastrointestinal hemorrhage  |  1
HP:0100534  |  Episcleritis  |  1
HP:0000717  |  Autism  |  1
HP:0008282  |  Unconjugated hyperbilirubinemia  |  1
HP:0002613  |  Biliary cirrhosis  |  1
HP:0002099  |  Asthma  |  1
HP:0001873  |  Low platelet count  |  1
HP:0005214  |  Bowel obstruction  |  1
HP:0002094  |  Dyspnea  |  1
HP:0000407  |  sensorineural hearing loss  |  1
HP:0002140  |  Ischemic stroke  |  1
HP:0002904  |  High blood bilirubin levels  |  1
Disease ID 101
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)
(Waiting for update.)
All Snps(Total Genotypes:922)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1000113190988588792TNFRSF11Aumls:C0009324BeFreeAllele 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.0.0002714422009IRGM5150860514CT
rs100481917786191149233IL23Rumls:C0009324BeFreers1004819 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.0.3269362722007IL23R167204530GA
rs100481922735800149233IL23Rumls:C0009324BeFreeIL-23 receptor gene rs7517847 and rs1004819 SNPs in ulcerative colitis.0.3269362722014IL23R167204530GA
rs100639492428444727034ACAD8umls:C0009324BeFreeGenomic 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.0.0100433492014SLC23A15139383837TC
rs10063949242844479963SLC23A1umls:C0009324BeFreeA 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).0.0002714422014SLC23A15139383837TC
rs1016883231282335334PLCL1umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.122012PLCL12198016944GA
rs10174238204544506775STAT4umls:C0009324BeFreeGenomic 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).0.0063627152010STAT42191108308GA
rs10181656204544506775STAT4umls:C0009324BeFreeGenomic 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).0.0063627152010STAT42191105153GC
rs1042522203096627157TP53umls:C0009324BeFreeR72P 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.0.0266647742010TP53177676154GT,C
rs1045642172603535243ABCB1umls:C0009324BeFreeA 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.0.0540515732007ABCB1787509329AT,G
rs1045642164620405243ABCB1umls:C0009324BeFreeMDR1 C3435T polymorphism is predictive of later onset of ulcerative colitis in Japanese.0.0540515732006ABCB1787509329AT,G
rs1045642246873445243ABCB1umls:C0009324BeFreeIn 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.0.0540515732013ABCB1787509329AT,G
rs1045642172429365243ABCB1umls:C0009324BeFreeThe frequency of C3435T MDR1 gene polymorphism in Iranian patients with ulcerative colitis.0.0540515732007ABCB1787509329AT,G
rs1045642125120265243ABCB1umls:C0009324BeFreeAssociation between the C3435T MDR1 gene polymorphism and susceptibility for ulcerative colitis.0.0540515732003ABCB1787509329AT,G
rs1045642156855405243ABCB1umls:C0009324BeFreeThis 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).0.0540515732005ABCB1787509329AT,G
rs104914342491141460498IGAN1umls:C0009324BeFreeThese 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).0.0002714422014IL7R535877812AG
rs1049353201954801268CNR1umls:C0009324BeFreeThe CNR1 p.Thr453Thr polymorphism appears to modulate UC susceptibility and the CD phenotype.0.0026384742010CNR1688143916CT
rs104995632477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014NA722720869TC
rs10499563247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014NA722720869TC
rs10499563247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014NA722720869TC
rs10499563247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014NA722720869TC
rs10499563247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014NA722720869TC
rs10499563247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014NA722720869TC
rs10499563247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014NA722720869TC
rs10499563247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014NA722720869TC
rs104995632477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014NA722720869TC
rs10499563247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014NA722720869TC
rs10499563247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014NA722720869TC
rs10499563247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014NA722720869TC
rs10499563247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014NA722720869TC
rs10499563247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014NA722720869TC
rs10499563247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014NA722720869TC
rs10758669243852393717JAK2umls:C0009324BeFreeJAK2 rs10758669 polymorphisms and susceptibility to ulcerative colitis and Crohn's disease: a meta-analysis.0.1313682212015NA94981602CA
rs10758669220651126774STAT3umls:C0009324BeFreeOur 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.0.1352542842012NA94981602CA
rs107586692022879910171RCL1umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0047340642010NA94981602CA
rs10758669222691209034CCRL2umls:C0009324BeFreeHere, 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.0.0010857672012NA94981602CA
rs107586692129763310171RCL1umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0047340642011NA94981602CA
rs10758669220651123717JAK2umls:C0009324BeFreeOur 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.0.1313682212012NA94981602CA
rs10758669202287993717JAK2umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.1313682212010NA94981602CA
rs107814992129763364170CARD9umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.2502824542011CARD99136371953GA
rs107814992129763364170CARD9umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.2502824542011CARD99136371953GA
rs107815001991557264170CARD9umls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.2502824542009CARD99136374886CT
rs10800309202287999103FCGR2Cumls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0023670322010NA1161502368AG
rs10800309202287992212FCGR2Aumls:C0009324GAD[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).]0.2481868632010NA1161502368AG
rs1080030920228799257177CFAP126umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0023670322010NA1161502368AG
rs1088336521049557159296NKX2-3umls:C0009324BeFreeNKX2-3 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).0.2578168132010LINC014751099528007GA
rs1088967719122664149233IL23Rumls:C0009324GWASCATUlcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.0.3269362722009IL23R167259437CA
rs10975003199155733717JAK2umls:C0009324GAD[A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.]0.1313682212009NA95213687TC
rs109750031991557311172INSL6umls:C0009324GAD[A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.]0.0023670322009NA95213687TC
rs10975003199155733641INSL4umls:C0009324GAD[A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.]0.0023670322009NA95213687TC
rs11150589231282333683ITGALumls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.122724352012ITGAL1630471173TC
rs1119014020228799159296NKX2-3umls:C0009324GWASCATGenome-wide association identifies multiple ulcerative colitis susceptibility loci.0.2578168132010NKX2-3;LINC014751099531836TC
rs1119014020228799159296NKX2-3umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.2578168132010NKX2-3;LINC014751099531836TC
rs1119014020228799101927324LINC01475umls:C0009324GWASCATGenome-wide association identifies multiple ulcerative colitis susceptibility loci.0.122010NKX2-3;LINC014751099531836TC
rs11205387190682161893ECM1umls:C0009324BeFreeWe also genotyped the UC-associated ECM1 variant rs11205387 in 1560 CD patients and 3028 controls.0.1269914752009ECM1;LOC1053714351150510262GA
rs1120902624611330149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014IL23R167240275GA
rs11209026249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014IL23R167240275GA
rs11209026249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014IL23R167240275GA
rs112090262008248364127NOD2umls:C0009324BeFreeOne 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).0.2339798922010IL23R167240275GA
rs1120902620192940149233IL23Rumls:C0009324GAD[IL23R was expressed in both CD and UC with a great variability.]0.3269362722010IL23R167240275GA
rs1120902619276991149233IL23Rumls:C0009324BeFreeWe 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.0.3269362722009IL23R167240275GA
rs112090262497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014IL23R167240275GA
rs1120902621297633149233IL23Rumls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.3269362722011IL23R167240275GA
rs11209026249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014IL23R167240275GA
rs112090262497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014IL23R167240275GA
rs1120902617877509149233IL23Rumls:C0009324BeFreeHeterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease but also ulcerative colitis.0.3269362722007IL23R167240275GA
rs1120902617894849149233IL23Rumls:C0009324BeFreeWe also provide further evidence for association of rs11209026 with UC and a report of an additive effect between IL23R and CARD15 genotypes in CD.0.3269362722007IL23R167240275GA
rs1120902619915572149233IL23Rumls:C0009324GWASCATGenome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.0.3269362722009IL23R167240275GA
rs1120902624971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014IL23R167240275GA
rs1120902619122664149233IL23Rumls:C0009324GWASCATUlcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.0.3269362722009IL23R167240275GA
rs11209026249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014IL23R167240275GA
rs112090262497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014IL23R167240275GA
rs112090261927699155054ATG16L1umls:C0009324BeFreeWe 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.0.032833332009IL23R167240275GA
rs11209026249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014IL23R167240275GA
rs11209026249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014IL23R167240275GA
rs11209026249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014IL23R167240275GA
rs11209026249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014IL23R167240275GA
rs112090262008248355054ATG16L1umls:C0009324BeFreeOne 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).0.032833332010IL23R167240275GA
rs11209026249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014IL23R167240275GA
rs1120902619294505149233IL23Rumls:C0009324BeFreeThe results suggest that IL23R R381Q confers protection against CD and that L310P confers protection against UC in females.0.3269362722010IL23R167240275GA
rs1120902620082483149233IL23Rumls:C0009324BeFreeOne 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).0.3269362722010IL23R167240275GA
rs1120902617786191149233IL23Rumls:C0009324BeFreers1004819 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.0.3269362722007IL23R167240275GA
rs112647991738901464127NOD2umls:C0009324BeFreeOur 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.0.2339798922007FCRL31157700967CT
rs1126510231282335739PTGIRumls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.122012PTGIR1946620526AG
rs1127233170580674583MUC2umls:C0009324BeFreeAllelic 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.0.0816286512006MUC133124908177TG
rs1127233170580674585MUC4umls:C0009324BeFreeAllelic 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.0.0005428842006MUC133124908177TG
rs11272331705806756667MUC13umls:C0009324BeFreeAllelic 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.0.0002714422006MUC133124908177TG
rs11465996247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014LY96873989727CG
rs114659962497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014LY96873989727CG
rs11465996247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014LY96873989727CG
rs11465996249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014LY96873989727CG
rs11465996247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014LY96873989727CG
rs114659962477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014LY96873989727CG
rs11465996247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014LY96873989727CG
rs11465996247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014LY96873989727CG
rs1146599624971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014LY96873989727CG
rs11465996249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014LY96873989727CG
rs11465996247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014LY96873989727CG
rs11465996249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014LY96873989727CG
rs11465996247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014LY96873989727CG
rs11465996247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014LY96873989727CG
rs11465996247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014LY96873989727CG
rs11465996249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014LY96873989727CG
rs114659962497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014LY96873989727CG
rs11465996249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014LY96873989727CG
rs11465996247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014LY96873989727CG
rs11465996247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014LY96873989727CG
rs11465996249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014LY96873989727CG
rs11465996249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014LY96873989727CG
rs11465996247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014LY96873989727CG
rs11465996249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014LY96873989727CG
rs114659962497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014LY96873989727CG
rs11465996249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014LY96873989727CG
rs11465996247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014LY96873989727CG
rs114659962477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014LY96873989727CG
rs11540654203096627157TP53umls:C0009324BeFreeR72P 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.0.0266647742010TP53177676040CT,G,A
rs11554257208484769966TNFSF15umls:C0009324BeFreeComparison 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)).0.2594454642010NA9114842790TC
rs11568563226854166579SLCO1A2umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012SLCO1A21221304500TG
rs11568563226854163663IRF5umls:C0009324BeFreeWe 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/rs1701704.0.1213572092012SLCO1A21221304500TG
rs115685632268541622915MMRN1umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012SLCO1A21221304500TG
rs1158438320228799647215MROH3Pumls:C0009324GWASCATGenome-wide association identifies multiple ulcerative colitis susceptibility loci.0.1223670322010MROH3P1200966738TC
rs1158438320228799647215MROH3Pumls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.1223670322010MROH3P1200966738TC
rs1161491320848167574501MIR499Aumls:C0009324BeFreeWe 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.0.0002714422011MIR196A21253991815CT
rs1161491320848167406938MIR146Aumls:C0009324BeFreeWe 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.0.0005428842011MIR196A21253991815CT
rs11676348212976333579CXCR2umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1226384742011NA2218145423CT
rs11739663212976336550SLC9A3umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0052769482011NA5593968TC
rs118053032242669264127NOD2umls:C0009324BeFreeThe 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.0.2339798922012IL23R167209833CT
rs1180530322426692149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722012IL23R167209833CT
rs11805303224266925771PTPN2umls:C0009324BeFreeThe 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.0.1293585072012IL23R167209833CT
rs11825977170580674585MUC4umls:C0009324BeFreeAllelic 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.0.0005428842006NA111075920GA
rs118259771705806756667MUC13umls:C0009324BeFreeAllelic 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.0.0002714422006NA111075920GA
rs11825977170580674583MUC2umls:C0009324BeFreeAllelic 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.0.0816286512006NA111075920GA
rs11889341204544506775STAT4umls:C0009324BeFreeGenomic 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).0.0063627152010STAT42191079016CT
rs11938228247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014TLR24153700794CA
rs11938228247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014TLR24153700794CA
rs11938228247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014TLR24153700794CA
rs11938228247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014TLR24153700794CA
rs119382282477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014TLR24153700794CA
rs11938228247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014TLR24153700794CA
rs11938228247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014TLR24153700794CA
rs11938228247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014TLR24153700794CA
rs11938228247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014TLR24153700794CA
rs11938228247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014TLR24153700794CA
rs119382282477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014TLR24153700794CA
rs11938228247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014TLR24153700794CA
rs11938228247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014TLR24153700794CA
rs11938228247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014TLR24153700794CA
rs11938228247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014TLR24153700794CA
rs1226184321297633219771CCNYumls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.2527353622011CCNY1035265126TG
rs1226184321297633219771CCNYumls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.2527353622011CCNY1035265126TG
rs123776322497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014TLR49117710452TC
rs1237763224971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014TLR49117710452TC
rs12377632249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014TLR49117710452TC
rs123776322497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014TLR49117710452TC
rs12377632249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014TLR49117710452TC
rs12377632249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014TLR49117710452TC
rs12377632249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014TLR49117710452TC
rs12377632249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014TLR49117710452TC
rs12377632249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014TLR49117710452TC
rs123776322497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014TLR49117710452TC
rs12377632249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014TLR49117710452TC
rs12377632249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014TLR49117710452TC
rs12377632249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014TLR49117710452TC
rs1261234719944697151306GPBAR1umls:C0009324BeFreeOf 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.0.0029099162010NA2218192615AG
rs1297265235110347332UBE2L3umls:C0009324BeFreeFOS, UBE2L3, the JAK2 gene region, and rs1297265 at chromosome arm 21q21.1 likely play a role in both Crohn's disease and UC.0.0005428842013LOC1019277452115444732AG
rs1297265212976338204NRIP1umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0047340642011LOC1019277452115444732AG
rs1297265235110343717JAK2umls:C0009324BeFreeFOS, UBE2L3, the JAK2 gene region, and rs1297265 at chromosome arm 21q21.1 likely play a role in both Crohn's disease and UC.0.1313682212013LOC1019277452115444732AG
rs1297265235110342353FOSumls:C0009324BeFreeFOS, UBE2L3, the JAK2 gene region, and rs1297265 at chromosome arm 21q21.1 likely play a role in both Crohn's disease and UC.0.0005428842013LOC1019277452115444732AG
rs13003464202287995966RELumls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0029099162010PUS10260959694AG
rs1300346420228799150962PUS10umls:C0009324GWASCATGenome-wide association identifies multiple ulcerative colitis susceptibility loci.0.1271010962010PUS10260959694AG
rs1300346420228799150962PUS10umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.1271010962010PUS10260959694AG
rs13172092022879954546RNF186umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.129739572010RNF186119813543GA
rs13172092022879954546RNF186umls:C0009324GWASCATGenome-wide association identifies multiple ulcerative colitis susceptibility loci.0.129739572010RNF186119813543GA
rs13172092022879923252OTUD3umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.1294681282010RNF186119813543GA
rs13172092022879930814PLA2G2Eumls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0071010962010RNF186119813543GA
rs1336118919491842345611IRGMumls:C0009324BeFreeIn 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.0.1239956832009NA5150843825TC
rs133611891949184255054ATG16L1umls:C0009324BeFreeIn 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.0.032833332009NA5150843825TC
rs1405655212459924790NFKB1umls:C0009324BeFreeGenotypes 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.0.13125862011NR1H21950379362TC
rs145689321830272149233IL23Rumls:C0009324BeFreeColon-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.0.3269362722011NA750230076GA
rs1456893218302724485MST1umls:C0009324BeFreeColon-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.0.2540925712011NA750230076GA
rs1523127212459924790NFKB1umls:C0009324BeFreeGenotypes 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.0.13125862011NR1I23119782192CA
rs1545620216480204650MYO9Bumls:C0009324BeFreeIn 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).0.0069914752011MYO9B1917192965TG
rs154562021648020149233IL23Rumls:C0009324BeFreeIn 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).0.3269362722011MYO9B1917192965TG
rs15549732477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014NA9117718534TC
rs1554973247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014NA9117718534TC
rs1554973247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014NA9117718534TC
rs1554973249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014NA9117718534TC
rs1554973249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014NA9117718534TC
rs1554973247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014NA9117718534TC
rs1554973249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014NA9117718534TC
rs1554973247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014NA9117718534TC
rs1554973247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014NA9117718534TC
rs15549732477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014NA9117718534TC
rs1554973247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014NA9117718534TC
rs15549732497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014NA9117718534TC
rs1554973247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014NA9117718534TC
rs155497324971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014NA9117718534TC
rs1554973247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014NA9117718534TC
rs1554973249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014NA9117718534TC
rs1554973247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014NA9117718534TC
rs15549732497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014NA9117718534TC
rs1554973249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014NA9117718534TC
rs1554973249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014NA9117718534TC
rs1554973247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014NA9117718534TC
rs15549732497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014NA9117718534TC
rs1554973249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014NA9117718534TC
rs1554973247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014NA9117718534TC
rs1554973247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014NA9117718534TC
rs1554973249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014NA9117718534TC
rs1554973247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014NA9117718534TC
rs1554973249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014NA9117718534TC
rs15587441912266450616IL22umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.0048100092009NA1268110812GA
rs1558744191226643458IFNGumls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.0115300422009NA1268110812GA
rs15587442022879955801IL26umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.127643982010NA1268110812GA
rs15587441912266455801IL26umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.127643982009NA1268110812GA
rs1558744202287993458IFNGumls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0115300422010NA1268110812GA
rs1561570226854166579SLCO1A2umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012OPTN1013113726TC
rs15615702268541622915MMRN1umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012OPTN1013113726TC
rs1561570226854163663IRF5umls:C0009324BeFreeWe 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/rs1701704.0.1213572092012OPTN1013113726TC
rs16940202212976333394IRF8umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0023670322011NA1685980635TC
rs1695212347612950GSTP1umls:C0009324BeFreeXRCC1 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.0.0031813582011GSTP11167585218AG
rs1701704226854166579SLCO1A2umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012IKZF4;LOC1053697811256018703TG
rs17017042268541622915MMRN1umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012IKZF4;LOC1053697811256018703TG
rs1701704226854163663IRF5umls:C0009324BeFreeWe 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/rs1701704.0.1213572092012IKZF4;LOC1053697811256018703TG
rs1708500719915573219333USP12umls:C0009324GAD[A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.]0.0023670322009NA1326957130TC
rs17085007212976332835GPR12umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0047340642011NA1326957130TC
rs17085007199155732835GPR12umls:C0009324GAD[A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.]0.0047340642009NA1326957130TC
rs17207986208484769966TNFSF15umls:C0009324BeFreeComparison 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)).0.2594454642010NA632111790TC
rs172878519915572999CDH1umls:C0009324GAD[Of note, CDH1 has recently been associated with susceptibility to colorectal cancer, an established complication of longstanding ulcerative colitis.]0.1242671252009ZFP901668557327AC
rs172878519915572146198ZFP90umls:C0009324GWASCATGenome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.0.1202714422009ZFP901668557327AC
rs172878523128233146198ZFP90umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.1202714422012ZFP901668557327AC
rs1736135202287998204NRIP1umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0047340642010LOC1019277452115432901TC
rs1737501821648020149233IL23Rumls:C0009324BeFreeIn 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).0.3269362722011IL23R167189464GA
rs17375018216480204650MYO9Bumls:C0009324BeFreeIn 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).0.0069914752011IL23R167189464GA
rs173807422592522117289TAGAPumls:C0009324BeFreeIn 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.0.0002714422012TAGAP;LOC1053780826159044945TC
rs173807422592522102723996LOC102723996umls:C0009324BeFreeIn 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.0.0005428842012TAGAP;LOC1053780826159044945TC
rs1738074225925229844ELMO1umls:C0009324BeFreeIn 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.0.0002714422012TAGAP;LOC1053780826159044945TC
rs1738856821297633132612ADAD1umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1250055062011ADAD14122408207GA
rs1738856821297633132612ADAD1umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.1250055062011ADAD14122408207GA
rs1799977182005124292MLH1umls:C0009324BeFreeEvaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulcerative colitis.0.0122684232008MLH1337012077AC,G
rs1799977193712184292MLH1umls:C0009324BeFreeI219V polymorphism in hMLH1 gene in patients affected with ulcerative colitis.0.0122684232009MLH1337012077AC,G
rs18006292497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014TNF631575254GA
rs1800629249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014TNF631575254GA
rs1800629249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014TNF631575254GA
rs180062924971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014TNF631575254GA
rs1800629249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014TNF631575254GA
rs18006292497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014TNF631575254GA
rs1800629249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014TNF631575254GA
rs1800629249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014TNF631575254GA
rs1800629249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014TNF631575254GA
rs1800629249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014TNF631575254GA
rs1800629249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014TNF631575254GA
rs1800629249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014TNF631575254GA
rs18006292497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014TNF631575254GA
rs1801274199155732212FCGR2Aumls:C0009324GWASCATA genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.0.2481868632009FCGR2A1161509955AG
rs1801274212976332212FCGR2Aumls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.2481868632011FCGR2A1161509955AG
rs1801274199155732212FCGR2Aumls:C0009324GAD[A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.]0.2481868632009FCGR2A1161509955AG
rs1801274212976332212FCGR2Aumls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.2481868632011FCGR2A1161509955AG
rs1801275113788203566IL4Rumls:C0009324BeFreeWe 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).0.0005428842001IL4R1627363079AG
rs1801275113788201234CCR5umls:C0009324BeFreeWe 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).0.0010857672001IL4R1627363079AG
rs1801282232561165468PPARGumls:C0009324BeFreeWe 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.0.0128971832013PPARG312351626CG
rs18012822497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014PPARG312351626CG
rs18012822497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014PPARG312351626CG
rs1801282249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014PPARG312351626CG
rs1801282249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014PPARG312351626CG
rs180128224971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014PPARG312351626CG
rs1801282249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014PPARG312351626CG
rs1801282249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014PPARG312351626CG
rs1801282249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014PPARG312351626CG
rs1801282249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014PPARG312351626CG
rs1801282249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014PPARG312351626CG
rs1801282249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014PPARG312351626CG
rs18012822497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014PPARG312351626CG
rs1801282249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014PPARG312351626CG
rs1801394219479614552MTRRumls:C0009324BeFreeThe 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.0.0029099162012MTRR;FASTKD357870860AG
rs1805087187000494548MTRumls:C0009324BeFreeMethionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China.0.0053628242008MTR1236885200AG
rs1805087187000494524MTHFRumls:C0009324BeFreeMethionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China.0.0206507832008MTR1236885200AG
rs1805192232561165468PPARGumls:C0009324BeFreeWe 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.0.0128971832013PPARG312379739CG
rs1816702249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014TLR24153688371TC
rs1816702247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014TLR24153688371TC
rs1816702247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014TLR24153688371TC
rs1816702249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014TLR24153688371TC
rs1816702249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014TLR24153688371TC
rs1816702249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014TLR24153688371TC
rs1816702247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014TLR24153688371TC
rs1816702249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014TLR24153688371TC
rs18167022477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014TLR24153688371TC
rs1816702249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014TLR24153688371TC
rs1816702247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014TLR24153688371TC
rs1816702247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014TLR24153688371TC
rs1816702247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014TLR24153688371TC
rs1816702249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014TLR24153688371TC
rs18167022497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014TLR24153688371TC
rs1816702247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014TLR24153688371TC
rs1816702249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014TLR24153688371TC
rs18167022497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014TLR24153688371TC
rs1816702247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014TLR24153688371TC
rs18167022477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014TLR24153688371TC
rs1816702247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014TLR24153688371TC
rs1816702247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014TLR24153688371TC
rs1816702247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014TLR24153688371TC
rs181670224971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014TLR24153688371TC
rs1816702247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014TLR24153688371TC
rs1816702249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014TLR24153688371TC
rs18167022497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014TLR24153688371TC
rs1816702247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014TLR24153688371TC
rs1818566152019548056144PCDHA4umls:C0009324BeFreeThe cannabinoid 1 receptor (CNR1) 1359 G/A polymorphism modulates susceptibility to ulcerative colitis and the phenotype in Crohn's disease.0.0002714422010PCDHA9;PCDHA11;PCDHA10;PCDHA8;PCDHA7;PCDHA6;PCDHA5;PCDHA4;PCDHA3;PCDHA2;PCDHA15140870462GA
rs1861494251715103458IFNGumls:C0009324BeFreePeripheral T cells of UC and Crohn's disease (CD) patients were genotyped for rs1861494 and analyzed for allele-specific and IFNG promoter methylation.0.0115300422015IFNG1268157629CT
rs187084247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014TLR9352227015AG
rs187084247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014TLR9352227015AG
rs187084247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014TLR9352227015AG
rs187084247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014TLR9352227015AG
rs187084247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014TLR9352227015AG
rs187084247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014TLR9352227015AG
rs1870842477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014TLR9352227015AG
rs187084247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014TLR9352227015AG
rs187084247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014TLR9352227015AG
rs187084247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014TLR9352227015AG
rs187084247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014TLR9352227015AG
rs1870842477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014TLR9352227015AG
rs187084247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014TLR9352227015AG
rs187084247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014TLR9352227015AG
rs187084247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014TLR9352227015AG
rs19929502022879923314SATB2umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0023670322010SATB22199425636AG
rs2032582172603535243ABCB1umls:C0009324BeFreeA 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.0.0540515732007ABCB1787531302AT,C
rs2032582156855405243ABCB1umls:C0009324BeFreeThis 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).0.0540515732005ABCB1787531302AT,C
rs2043211212487623553IL1Bumls:C0009324BeFreeThe stop allele of rs2043211 was associated with higher serum interleukin-1β levels only in female patients with UC (P = 0.027).0.1440699072011CARD81948234449AT
rs20668421211519564127NOD2umls:C0009324BeFreeA 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.0.2339798922002NOD21650710713CA,T
rs206684222426692149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722012NOD21650710713CA,T
rs2066842224266925771PTPN2umls:C0009324BeFreeThe 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.0.1293585072012NOD21650710713CA,T
rs20668422414592864127NOD2umls:C0009324BeFreeRecent 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.0.2339798922014NOD21650710713CA,T
rs20668422242669264127NOD2umls:C0009324BeFreeThe 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.0.2339798922012NOD21650710713CA,T
rs20668432120993864127NOD2umls:C0009324BeFreeGenomic 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).0.2339798922010NOD21650711288CA,T
rs20668441648512464127NOD2umls:C0009324BeFreeWe 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 4.0.2339798922006NOD21650712015CT
rs2066844160105837099TLR4umls:C0009324BeFreeWe 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.0.0343523612005NOD21650712015CT
rs20668442120993864127NOD2umls:C0009324BeFreeGenomic 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).0.2339798922010NOD21650712015CT
rs206684420082483149233IL23Rumls:C0009324BeFreeOne 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).0.3269362722010NOD21650712015CT
rs20668441211519564127NOD2umls:C0009324BeFreeA 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.0.2339798922002NOD21650712015CT
rs20668441601058364127NOD2umls:C0009324BeFreeWe 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.0.2339798922005NOD21650712015CT
rs20668441868022364127NOD2umls:C0009324BeFreeNOD2/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).0.2339798922008NOD21650712015CT
rs2066844186802237099TLR4umls:C0009324BeFreeTo 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.0.0343523612008NOD21650712015CT
rs20668441263166964127NOD2umls:C0009324BeFreeWe 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.0.2339798922003NOD21650712015CT
rs20668442008248355054ATG16L1umls:C0009324BeFreeOne 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).0.032833332010NOD21650712015CT
rs20668442008248364127NOD2umls:C0009324BeFreeOne 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).0.2339798922010NOD21650712015CT
rs20668452370915764127NOD2umls:C0009324BeFreeThree 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).0.2339798922013NOD21650722629GC,T
rs20668452120993864127NOD2umls:C0009324BeFreeGenomic 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).0.2339798922010NOD21650722629GC,T
rs206684520082483149233IL23Rumls:C0009324BeFreeOne 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).0.3269362722010NOD21650722629GC,T
rs2066845218302724485MST1umls:C0009324BeFreeColon-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.0.2540925712011NOD21650722629GC,T
rs2066845189427543558IL2umls:C0009324BeFreeOur 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.0.0130728172009NOD21650722629GC,T
rs206684521830272149233IL23Rumls:C0009324BeFreeColon-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.0.3269362722011NOD21650722629GC,T
rs2066845189427543553IL1Bumls:C0009324BeFreeOur 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.0.1440699072009NOD21650722629GC,T
rs20668451211519564127NOD2umls:C0009324BeFreeA 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.0.2339798922002NOD21650722629GC,T
rs20668452008248355054ATG16L1umls:C0009324BeFreeOne 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).0.032833332010NOD21650722629GC,T
rs20668451894275464127NOD2umls:C0009324BeFreeOur 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.0.2339798922009NOD21650722629GC,T
rs2066845186802237099TLR4umls:C0009324BeFreeTo 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.0.0343523612008NOD21650722629GC,T
rs20668452008248364127NOD2umls:C0009324BeFreeOne 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).0.2339798922010NOD21650722629GC,T
rs20668451648512464127NOD2umls:C0009324BeFreeWe 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 4.0.2339798922006NOD21650722629GC,T
rs2066845189427547099TLR4umls:C0009324BeFreeOur 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.0.0343523612009NOD21650722629GC,T
rs2066845189427547097TLR2umls:C0009324BeFreeOur 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.0.0119969812009NOD21650722629GC,T
rs20668451263166964127NOD2umls:C0009324BeFreeWe 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.0.2339798922003NOD21650722629GC,T
rs206684720082483149233IL23Rumls:C0009324BeFreeOne 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).0.3269362722010NOD21650729867-C
rs20668472008248355054ATG16L1umls:C0009324BeFreeOne 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).0.032833332010NOD21650729867-C
rs20668472008248364127NOD2umls:C0009324BeFreeOne 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).0.2339798922010NOD21650729867-C
rs20668472120993864127NOD2umls:C0009324BeFreeGenomic 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).0.2339798922010NOD21650729867-C
rs20767562120993864127NOD2umls:C0009324BeFreeGenomic 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).0.2339798922010NOD21650722970AG
rs2108225199155731811SLC26A3umls:C0009324GAD[A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.]0.1321066022009NA7107812658GA
rs21552192129763356946C11orf30umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0023670322011NA1176588150GT
rs2158836191226641738DLDumls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.0047340642009LAMB17107940394AG
rs2158836191226641811SLC26A3umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.1321066022009LAMB17107940394AG
rs2158836191226643912LAMB1umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.127643982009LAMB17107940394AG
rs220184120228799149233IL23Rumls:C0009324GWASCATGenome-wide association identifies multiple ulcerative colitis susceptibility loci.0.3269362722010IL23R167228519AG
rs22018412441587550941IBD5umls:C0009324BeFreeThe IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not confer susceptibility for UC.0.0199124032013IL23R167228519AG
rs220184124415875149233IL23Rumls:C0009324BeFreeThe IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not confer susceptibility for UC.0.3269362722013IL23R167228519AG
rs22410572397734856603CYP26B1umls:C0009324BeFreeCytochrome 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).0.0002714422013CYP26B1272134831AG
rs22418792245778155054ATG16L1umls:C0009324BeFreeEpistasis 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.0.032833332012ATG16L1;SCARNA52233274822GA
rs22418802515971055054ATG16L1umls:C0009324BeFreeIn addition, the carriage of T300A variant alleles conferred a protective effect in UC.0.032833332014ATG16L1;SCARNA52233274722AG
rs22418802022217155054ATG16L1umls:C0009324BeFreeThe 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.0.032833332010ATG16L1;SCARNA52233274722AG
rs224188019491842345611IRGMumls:C0009324BeFreeIn 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.0.1239956832009ATG16L1;SCARNA52233274722AG
rs22418802008248355054ATG16L1umls:C0009324BeFreeOne 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).0.032833332010ATG16L1;SCARNA52233274722AG
rs224188020082483149233IL23Rumls:C0009324BeFreeOne 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).0.3269362722010ATG16L1;SCARNA52233274722AG
rs22418801949184255054ATG16L1umls:C0009324BeFreeIn 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.0.032833332009ATG16L1;SCARNA52233274722AG
rs22418801836630655054ATG16L1umls:C0009324BeFreeWith 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.0.032833332008ATG16L1;SCARNA52233274722AG
rs22418802008248364127NOD2umls:C0009324BeFreeOne 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).0.2339798922010ATG16L1;SCARNA52233274722AG
rs22418801867181755054ATG16L1umls:C0009324BeFreeWe confirm the strong association between T300A and CD, specifically ileal subphenotype, and also report the first strong association of this variant with UC.0.032833332008ATG16L1;SCARNA52233274722AG
rs2246901170580674583MUC2umls:C0009324BeFreeAllelic 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.0.0816286512006MUC43195762138CA
rs22469011705806756667MUC13umls:C0009324BeFreeAllelic 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.0.0002714422006MUC43195762138CA
rs2246901170580674585MUC4umls:C0009324BeFreeAllelic 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.0.0005428842006MUC43195762138CA
rs22759132477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014IL17A652186235GA
rs2275913247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014IL17A652186235GA
rs2275913247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014IL17A652186235GA
rs2275913247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014IL17A652186235GA
rs2275913247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014IL17A652186235GA
rs2275913247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014IL17A652186235GA
rs2275913229557003605IL17Aumls:C0009324BeFreeInfluence of IL17A polymorphisms (rs2275913 and rs3748067) on the susceptibility to ulcerative colitis.0.0077958692012IL17A652186235GA
rs2275913247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014IL17A652186235GA
rs2275913247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014IL17A652186235GA
rs2275913247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014IL17A652186235GA
rs2275913247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014IL17A652186235GA
rs2275913247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014IL17A652186235GA
rs22759132477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014IL17A652186235GA
rs2275913247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014IL17A652186235GA
rs2275913247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014IL17A652186235GA
rs2275913220288383605IL17Aumls:C0009324BeFreeThe single nucleotide polymorphism (SNP), rs2275913, in the promoter region of the IL-17 gene is associated with susceptibility to ulcerative colitis.0.0077958692011IL17A652186235GA
rs2275913247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014IL17A652186235GA
rs2289308164945929231DLG5umls:C0009324BeFreeSix 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).0.0071770412006DLG51077819493GA
rs2297441212976338771TNFRSF6Bumls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0026384742011TNFRSF6B;RTEL1;RTEL1-TNFRSF6B2063696229GA
rs22974412129763351750RTEL1umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.122011TNFRSF6B;RTEL1;RTEL1-TNFRSF6B2063696229GA
rs229744121297633100533107RTEL1-TNFRSF6Bumls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.122011TNFRSF6B;RTEL1;RTEL1-TNFRSF6B2063696229GA
rs2298428225925227332UBE2L3umls:C0009324BeFreeIn 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.0.0005428842012YDJC2221628603CT
rs2301436222691209034CCRL2umls:C0009324BeFreeHere, 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.0.0010857672012FGFR1OP6167024500CT
rs23054802022879955876GSDMBumls:C0009324GWASCATGenome-wide association identifies multiple ulcerative colitis susceptibility loci.0.1250055062010GSDMB1739905943GA
rs23054802022879955876GSDMBumls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.1250055062010GSDMB1739905943GA
rs23054802022879994103ORMDL3umls:C0009324GAD[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).]0.1231813582010GSDMB1739905943GA
rs2310173212976337850IL1R2umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1223670322011NA2102047167TG
rs2359952248371725788PTPRCumls:C0009324GWASCATGenome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.0.122015PTPRC1198687278AG
rs2395185226949303122HLA-DRAumls:C0009324BeFreeThe minor allele T of rs2395185 in HLA-DRA is the risk allele for asthma but the protective allele for ulcerative colitis.0.0121066022012NA632465390GT
rs23951851912266456244BTNL2umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.0174694262009NA632465390GT
rs2395185191226643119HLA-DQB1umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.0077298562009NA632465390GT
rs2395185191226643122HLA-DRAumls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.0121066022009NA632465390GT
rs2395185191226643117HLA-DQA1umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.1247340642009NA632465390GT
rs242557226854163663IRF5umls:C0009324BeFreeWe 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/rs1701704.0.1213572092012MAPT1745942346GA
rs242557226854166579SLCO1A2umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012MAPT1745942346GA
rs2425572268541622915MMRN1umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012MAPT1745942346GA
rs2430561247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014IFNG1268158742TA
rs2430561247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014IFNG1268158742TA
rs2430561247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014IFNG1268158742TA
rs2430561247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014IFNG1268158742TA
rs2430561247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014IFNG1268158742TA
rs2430561247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014IFNG1268158742TA
rs2430561247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014IFNG1268158742TA
rs2430561247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014IFNG1268158742TA
rs2430561247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014IFNG1268158742TA
rs24305612477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014IFNG1268158742TA
rs2430561247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014IFNG1268158742TA
rs2430561247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014IFNG1268158742TA
rs24305612477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014IFNG1268158742TA
rs2430561247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014IFNG1268158742TA
rs2430561247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014IFNG1268158742TA
rs2476601249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014PTPN22;AP4B1-AS11113834946AG
rs24766012497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014PTPN22;AP4B1-AS11113834946AG
rs2476601249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014PTPN22;AP4B1-AS11113834946AG
rs2476601249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014PTPN22;AP4B1-AS11113834946AG
rs247660124971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014PTPN22;AP4B1-AS11113834946AG
rs24766012397499426191PTPN22umls:C0009324BeFreeSNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC.0.0090011892014PTPN22;AP4B1-AS11113834946AG
rs2476601249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014PTPN22;AP4B1-AS11113834946AG
rs2476601249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014PTPN22;AP4B1-AS11113834946AG
rs2476601249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014PTPN22;AP4B1-AS11113834946AG
rs24766012497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014PTPN22;AP4B1-AS11113834946AG
rs2476601249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014PTPN22;AP4B1-AS11113834946AG
rs2476601249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014PTPN22;AP4B1-AS11113834946AG
rs2476601249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014PTPN22;AP4B1-AS11113834946AG
rs24766012497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014PTPN22;AP4B1-AS11113834946AG
rs247660123974994144811LACC1umls:C0009324BeFreeSNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC.0.0026384742014PTPN22;AP4B1-AS11113834946AG
rs24884572345630126191PTPN22umls:C0009324BeFreeAssociation of PTPN22 gene (rs2488457) polymorphism with ulcerative colitis and high levels of PTPN22 mRNA in ulcerative colitis.0.0090011892013PTPN22;AP4B1-AS11113872746GC,A
rs254215122426692149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722012NA1812779948GT
rs25421512242669264127NOD2umls:C0009324BeFreeThe 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.0.2339798922012NA1812779948GT
rs2542151224266925771PTPN2umls:C0009324BeFreeThe 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.0.1293585072012NA1812779948GT
rs2542151220212075771PTPN2umls:C0009324BeFreeThe 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.0.1293585072012NA1812779948GT
rs25421512245778155054ATG16L1umls:C0009324BeFreeEpistasis 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.0.032833332012NA1812779948GT
rs25456023128233100996485C5orf66umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.122012C5orf665135107916GA
rs254560212976335307PITX1umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0023670322011C5orf665135107916GA
rs25456021297633100996485C5orf66umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.122011C5orf665135107916GA
rs25487212347612950GSTP1umls:C0009324BeFreeXRCC1 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.0.0031813582011XRCC11943551574TC
rs2548722193858401637OR7E26Pumls:C0009324BeFreeThe 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).0.0002714422012XRCC11943551574TC
rs25691902477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014CD14;TMCO65140633331AG
rs2569190247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014CD14;TMCO65140633331AG
rs2569190247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014CD14;TMCO65140633331AG
rs2569190247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014CD14;TMCO65140633331AG
rs2569190247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014CD14;TMCO65140633331AG
rs2569190247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014CD14;TMCO65140633331AG
rs2569190247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014CD14;TMCO65140633331AG
rs256919023049772929CD14umls:C0009324BeFreeExpanding 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.0.0306380512012CD14;TMCO65140633331AG
rs2569190247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014CD14;TMCO65140633331AG
rs2569190247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014CD14;TMCO65140633331AG
rs2569190247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014CD14;TMCO65140633331AG
rs2569190247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014CD14;TMCO65140633331AG
rs2569190247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014CD14;TMCO65140633331AG
rs2569190247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014CD14;TMCO65140633331AG
rs25691902477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014CD14;TMCO65140633331AG
rs2569190247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014CD14;TMCO65140633331AG
rs267939212976331611DAPumls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.2426384742011DAP510752203CT
rs267939212976331611DAPumls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.2426384742011DAP510752203CT
rs2695121212459924790NFKB1umls:C0009324BeFreeGenotypes 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.0.13125862011NR1H21950377484TC
rs27620512491141460498IGAN1umls:C0009324BeFreeThese 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).0.0002714422014DLEU11350261579CT
rs2816958231282332494NR5A2umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.1202714422012NR5A21200132792AG
rs28362491249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014NFKB1;LOC1053776214102500998ATTG-
rs28362491249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014NFKB1;LOC1053776214102500998ATTG-
rs28362491249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014NFKB1;LOC1053776214102500998ATTG-
rs28362491249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014NFKB1;LOC1053776214102500998ATTG-
rs2836249124971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014NFKB1;LOC1053776214102500998ATTG-
rs283624912497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014NFKB1;LOC1053776214102500998ATTG-
rs283624912497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014NFKB1;LOC1053776214102500998ATTG-
rs28362491249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014NFKB1;LOC1053776214102500998ATTG-
rs28362491212459924790NFKB1umls:C0009324BeFreeGenotypes 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.0.13125862011NFKB1;LOC1053776214102500998ATTG-
rs283624912497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014NFKB1;LOC1053776214102500998ATTG-
rs28362491249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014NFKB1;LOC1053776214102500998ATTG-
rs28362491249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014NFKB1;LOC1053776214102500998ATTG-
rs28362491249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014NFKB1;LOC1053776214102500998ATTG-
rs28362491249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014NFKB1;LOC1053776214102500998ATTG-
rs283747152312823311261CHP1umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.122012CHP11541271752AG
rs2838519212976338209C21orf33umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.1226384742011LOC1053771392144195140GA
rs2838519212976338209C21orf33umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1226384742011LOC1053771392144195140GA
rs285882925082827441168FAM26Fumls:C0009324BeFreeSNP 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.0.0002714422015NA6116447754AG
rs28709461912266455801IL26umls:C0009324GWASCATUlcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.0.127643982009IL26;LOC1053698181268202881TC
rs28709461912266455801IL26umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.127643982009IL26;LOC1053698181268202881TC
rs28725072269493055876GSDMBumls:C0009324BeFreeThe 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.0.1250055062012NA1739884510GA
rs287250721297633124626ZPBP2umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0047340642011NA1739884510GA
rs291016420848167574501MIR499Aumls:C0009324BeFreeWe 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.0.0002714422011LOC285628;MIR146A5160485411CG
rs291016420848167406938MIR146Aumls:C0009324BeFreeWe 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.0.0005428842011LOC285628;MIR146A5160485411CG
rs3024493199155723586IL10umls:C0009324GWASCATGenome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.0.2946358942009IL101206770623CA
rs3024493202287983586IL10umls:C0009324GWASCATGenome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).0.2946358942010IL101206770623CA
rs3024505249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014NA1206766559GA
rs302450524971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014NA1206766559GA
rs3024505249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014NA1206766559GA
rs3024505249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014NA1206766559GA
rs3024505249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014NA1206766559GA
rs30245052022879929949IL19umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0026384742010NA1206766559GA
rs30245052497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014NA1206766559GA
rs3024505205098893586IL10umls:C0009324BeFreeThe polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study.0.2946358942010NA1206766559GA
rs30245052497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014NA1206766559GA
rs3024505249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014NA1206766559GA
rs3024505249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014NA1206766559GA
rs3024505249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014NA1206766559GA
rs3024505205098893586IL10umls:C0009324GAD[The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study.]0.2946358942010NA1206766559GA
rs3024505249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014NA1206766559GA
rs3024505233481203586IL10umls:C0009324BeFreeOnly one SNP, rs3024505 (Chr 1q32.1, upstream of IL10), was associated with susceptibility to UC.0.2946358942013NA1206766559GA
rs3024505188364483586IL10umls:C0009324GAD[Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.]0.2946358942008NA1206766559GA
rs3024505249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014NA1206766559GA
rs30245052497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014NA1206766559GA
rs3135932188000733587IL10RAumls:C0009324BeFreeThe IL-10R1 S138G loss-of-function allele and ulcerative colitis.0.0056342662009IL10RA11117993348AG
rs3135932188000736774STAT3umls:C0009324BeFreeIn 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.0.1352542842009IL10RA11117993348AG
rs3135932188000733586IL10umls:C0009324BeFreeIn 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.0.2946358942009IL10RA11117993348AG
rs3135932188000736772STAT1umls:C0009324BeFreeIn 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.0.0005428842009IL10RA11117993348AG
rs3194051212976333575IL7Rumls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.242011IL7R535876172AG
rs3197999250828274485MST1umls:C0009324GWASCATA genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.0.2540925712015MST1349684099GA
rs3197999190791704485MST1umls:C0009324BeFreeWe 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.0.2540925712008MST1349684099GA
rs3197999200249044485MST1umls:C0009324BeFreeBSN 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)).0.2540925712010MST1349684099GA
rs3197999202287994485MST1umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.2540925712010MST1349684099GA
rs319799919944697151306GPBAR1umls:C0009324BeFreeOf 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.0.0029099162010MST1349684099GA
rs3197999202287994485MST1umls:C0009324GWASCATGenome-wide association identifies multiple ulcerative colitis susceptibility loci.0.2540925712010MST1349684099GA
rs339723132428444727034ACAD8umls:C0009324BeFreeGenomic 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.0.0100433492014SLC23A15139379813CT
rs352139249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014TLR9352224356TC
rs352139247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014TLR9352224356TC
rs352139249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014TLR9352224356TC
rs352139247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014TLR9352224356TC
rs352139249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014TLR9352224356TC
rs352139247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014TLR9352224356TC
rs35213924971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014TLR9352224356TC
rs352139247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014TLR9352224356TC
rs3521392477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014TLR9352224356TC
rs352139249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014TLR9352224356TC
rs352139249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014TLR9352224356TC
rs3521392477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014TLR9352224356TC
rs352139247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014TLR9352224356TC
rs352139247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014TLR9352224356TC
rs352139249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014TLR9352224356TC
rs352139249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014TLR9352224356TC
rs3521392497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014TLR9352224356TC
rs352139247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014TLR9352224356TC
rs352139247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014TLR9352224356TC
rs352139247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014TLR9352224356TC
rs352139247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014TLR9352224356TC
rs3521392497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014TLR9352224356TC
rs352139249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014TLR9352224356TC
rs3521392497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014TLR9352224356TC
rs352139247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014TLR9352224356TC
rs352139247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014TLR9352224356TC
rs352139247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014TLR9352224356TC
rs352139249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014TLR9352224356TC
rs3521401945512950941IBD5umls:C0009324BeFreeThe 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.0.0199124032009TLR9352222681CA,T
rs352140194551299231DLG5umls:C0009324BeFreeThe 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.0.0071770412009TLR9352222681CA,T
rs356756662129763311315PARK7umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1223670322011PARK717961913GC,T
rs356756662129763311315PARK7umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.1223670322011PARK717961913GC,T
rs35873774187753087495XBP1P1umls:C0009324BeFreeAn 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.0.0005428842008XBP12228795944AG
rs361525247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014TNF631575324GA
rs3615252477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014TNF631575324GA
rs361525247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014TNF631575324GA
rs3615252477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014TNF631575324GA
rs361525247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014TNF631575324GA
rs361525247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014TNF631575324GA
rs361525247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014TNF631575324GA
rs361525247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014TNF631575324GA
rs361525247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014TNF631575324GA
rs361525247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014TNF631575324GA
rs361525247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014TNF631575324GA
rs361525247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014TNF631575324GA
rs361525247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014TNF631575324GA
rs361525247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014TNF631575324GA
rs361525247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014TNF631575324GA
rs3712099852370915764127NOD2umls:C0009324BeFreeThree 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).0.2339798922013WDHD11454957612CT
rs374644420848167406938MIR146Aumls:C0009324BeFreeWe 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.0.0005428842011MYH7B;MIR499A;MIR499B2034990448AG
rs374644420848167574501MIR499Aumls:C0009324BeFreeWe 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.0.0002714422011MYH7B;MIR499A;MIR499B2034990448AG
rs3748067229557003605IL17Aumls:C0009324BeFreeInfluence of IL17A polymorphisms (rs2275913 and rs3748067) on the susceptibility to ulcerative colitis.0.0077958692012IL17A652190541CT
rs37637722818088064149233IL23Rumls:C0009324BeFreeGiven 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).0.3269362722008IL23R167182950AG
rs376414723974994144811LACC1umls:C0009324BeFreeSNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC.0.0026384742014LACC11343883789AG
rs37641472397499426191PTPN22umls:C0009324BeFreeSNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC.0.0090011892014LACC11343883789AG
rs3774959231282334790NFKB1umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.13125862012NFKB14102589957GA
rs3789243178287785243ABCB1umls:C0009324BeFreeIn 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).0.0540515732007ABCB1787591570AG
rs3804099247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014TLR24153703504TC
rs3804099247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014TLR24153703504TC
rs3804099247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014TLR24153703504TC
rs3804099247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014TLR24153703504TC
rs3804099247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014TLR24153703504TC
rs38040992477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014TLR24153703504TC
rs3804099247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014TLR24153703504TC
rs3804099247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014TLR24153703504TC
rs38040992477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014TLR24153703504TC
rs3804099247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014TLR24153703504TC
rs3804099247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014TLR24153703504TC
rs3804099247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014TLR24153703504TC
rs3804099247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014TLR24153703504TC
rs3804099247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014TLR24153703504TC
rs3804099247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014TLR24153703504TC
rs38063081912266454546RNF186umls:C0009324GWASCATUlcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.0.129739572009RNF186119816373CT
rs38063081912266454546RNF186umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.129739572009RNF186119816373CT
rs38649371622193858401637OR7E26Pumls:C0009324BeFreeThe 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).0.0002714422012NANANANANA
rs386493716212347612950GSTP1umls:C0009324BeFreeXRCC1 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.0.0031813582011NANANANANA
rs386513644201954801268CNR1umls:C0009324BeFreeThe CNR1 p.Thr453Thr polymorphism appears to modulate UC susceptibility and the CD phenotype.0.0026384742010NANANANANA
rs3865136442019548056144PCDHA4umls:C0009324BeFreeThe cannabinoid 1 receptor (CNR1) 1359 G/A polymorphism modulates susceptibility to ulcerative colitis and the phenotype in Crohn's disease.0.0002714422010NANANANANA
rs39392862363422690865IL33umls:C0009324BeFreeUpon 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.0.0016286512013NA96210099TC
rs40775152022879964170CARD9umls:C0009324GWASCATGenome-wide association identifies multiple ulcerative colitis susceptibility loci.0.2502824542010CARD99136372044CT
rs40775152022879964170CARD9umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.2502824542010CARD99136372044CT
rs4149570249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014TNFRSF1A126342424AC
rs4149570247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014TNFRSF1A126342424AC
rs4149570249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014TNFRSF1A126342424AC
rs4149570247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014TNFRSF1A126342424AC
rs4149570247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014TNFRSF1A126342424AC
rs41495702497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014TNFRSF1A126342424AC
rs414957024971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014TNFRSF1A126342424AC
rs41495702477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014TNFRSF1A126342424AC
rs4149570247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014TNFRSF1A126342424AC
rs4149570247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014TNFRSF1A126342424AC
rs4149570247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014TNFRSF1A126342424AC
rs41495702497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014TNFRSF1A126342424AC
rs4149570249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014TNFRSF1A126342424AC
rs4149570247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014TNFRSF1A126342424AC
rs41495702477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014TNFRSF1A126342424AC
rs4149570247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014TNFRSF1A126342424AC
rs41495702497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014TNFRSF1A126342424AC
rs4149570249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014TNFRSF1A126342424AC
rs4149570247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014TNFRSF1A126342424AC
rs4149570249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014TNFRSF1A126342424AC
rs4149570247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014TNFRSF1A126342424AC
rs4149570247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014TNFRSF1A126342424AC
rs4149570247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014TNFRSF1A126342424AC
rs4149570249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014TNFRSF1A126342424AC
rs4149570249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014TNFRSF1A126342424AC
rs4149570249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014TNFRSF1A126342424AC
rs4149570249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014TNFRSF1A126342424AC
rs4149570247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014TNFRSF1A126342424AC
rs415165724837172629CFBumls:C0009324GWASCATGenome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.0.1202714422015CFB631949763TC
rs4246905212976339966TNFSF15umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.2594454642011TNFSF159114790969TC
rs4246905212976339966TNFSF15umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.2594454642011TNFSF159114790969TC
rs4251961247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014IL1RN2113116890TC
rs4251961247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014IL1RN2113116890TC
rs4251961247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014IL1RN2113116890TC
rs4251961247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014IL1RN2113116890TC
rs4251961247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014IL1RN2113116890TC
rs4251961247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014IL1RN2113116890TC
rs4251961247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014IL1RN2113116890TC
rs4251961247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014IL1RN2113116890TC
rs4251961247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014IL1RN2113116890TC
rs42519612477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014IL1RN2113116890TC
rs4251961247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014IL1RN2113116890TC
rs4251961247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014IL1RN2113116890TC
rs4251961247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014IL1RN2113116890TC
rs4251961247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014IL1RN2113116890TC
rs42519612477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014IL1RN2113116890TC
rs435818821272798671BPIumls:C0009324BeFreeOur study is the first one reporting a novel association between BPI gene mutation (Lys216Glu) and UC.0.0060912732011BPI;LOC1053726122038318446GA
rs4510766212976331811SLC26A3umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1321066022011NA7107852344AG
rs4537545249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014IL6R1154446403CT
rs45375452497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014IL6R1154446403CT
rs45375452497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014IL6R1154446403CT
rs4537545249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014IL6R1154446403CT
rs4537545249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014IL6R1154446403CT
rs4537545249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014IL6R1154446403CT
rs4537545249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014IL6R1154446403CT
rs453754524971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014IL6R1154446403CT
rs4537545249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014IL6R1154446403CT
rs45375452497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014IL6R1154446403CT
rs4537545249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014IL6R1154446403CT
rs4537545249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014IL6R1154446403CT
rs4537545249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014IL6R1154446403CT
rs4553808204455681493CTLA4umls:C0009324BeFreeCTLA4 gene -1661A/G and long 3' untranslated region (AT)n repeat polymorphisms are associated with UC in Central China.0.0312046792010CTLA42203866282AG
rs4598195191226641738DLDumls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.0047340642009LOC1053754447107862996AC
rs4598195202287991738DLDumls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0047340642010LOC1053754447107862996AC
rs4598195191226641811SLC26A3umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.1321066022009LOC1053754447107862996AC
rs4598195202287991811SLC26A3umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.1321066022010LOC1053754447107862996AC
rs4598195202287993912LAMB1umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.127643982010LOC1053754447107862996AC
rs4598195191226643912LAMB1umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.127643982009LOC1053754447107862996AC
rs46549252022879823252OTUD3umls:C0009324GWASCATGenome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).0.1294681282010OTUD3119901230GC,T
rs46549252022879823252OTUD3umls:C0009324GAD[Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).]0.1294681282010OTUD3119901230GC,T
rs46633962245778155054ATG16L1umls:C0009324BeFreeEpistasis 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.0.032833332012ATG16L12233283605CT
rs4676406212976332859GPR35umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0026384742011NA2240639691GT
rs4696480247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014TLR24153685974TA
rs4696480247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014TLR24153685974TA
rs46964802477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014TLR24153685974TA
rs4696480247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014TLR24153685974TA
rs4696480247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014TLR24153685974TA
rs4696480247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014TLR24153685974TA
rs4696480247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014TLR24153685974TA
rs4696480247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014TLR24153685974TA
rs4696480247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014TLR24153685974TA
rs4696480247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014TLR24153685974TA
rs4696480247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014TLR24153685974TA
rs4696480247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014TLR24153685974TA
rs4696480247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014TLR24153685974TA
rs4696480247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014TLR24153685974TA
rs46964802477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014TLR24153685974TA
rs47281422268541622915MMRN1umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012NA7128933913GA
rs4728142226854166579SLCO1A2umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012NA7128933913GA
rs4728142226854163663IRF5umls:C0009324BeFreeWe 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/rs1701704.0.1213572092012NA7128933913GA
rs472814221297633375616KCPumls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0023670322011NA7128933913GA
rs4730273191226641811SLC26A3umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.1321066022009NA7107839074CA
rs4730276191226641811SLC26A3umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.1321066022009NA7107843992GA
rs4730276191226643912LAMB1umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.127643982009NA7107843992GA
rs4730276191226641738DLDumls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.0047340642009NA7107843992GA
rs4781011202287994261CIITAumls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0023670322010CIITA;LOC1053710801610881454TG
rs4819388225925229844ELMO1umls:C0009324BeFreeIn 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.0.0002714422012ICOSLG2144227538TC
rs481938822592522102723996LOC102723996umls:C0009324BeFreeIn 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.0.0005428842012ICOSLG2144227538TC
rs481938822592522117289TAGAPumls:C0009324BeFreeIn 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.0.0002714422012ICOSLG2144227538TC
rs4839052312823384441MAML2umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.122012MAML21196290263GA
rs4848306247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014NA2112840530GA
rs4848306247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014NA2112840530GA
rs4848306247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014NA2112840530GA
rs48483062477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014NA2112840530GA
rs4848306247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014NA2112840530GA
rs4848306247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014NA2112840530GA
rs4848306247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014NA2112840530GA
rs4848306247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014NA2112840530GA
rs4848306247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014NA2112840530GA
rs48483062477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014NA2112840530GA
rs4848306247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014NA2112840530GA
rs4848306247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014NA2112840530GA
rs4848306247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014NA2112840530GA
rs4848306247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014NA2112840530GA
rs4848306247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014NA2112840530GA
rs49570482022879911076TPPPumls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0023670322010NA5583327GA
rs4957048202287996550SLC9A3umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0052769482010NA5583327GA
rs49570482022879955722CEP72umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0023670322010NA5583327GA
rs49588471949184255054ATG16L1umls:C0009324BeFreeIn 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.0.032833332009IRGM5150860025GA
rs495884719491842345611IRGMumls:C0009324BeFreeIn 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.0.1239956832009IRGM5150860025GA
rs4958847190988588792TNFRSF11Aumls:C0009324BeFreeAllele 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.0.0002714422009IRGM5150860025GA
rs4986790178504117099TLR4umls:C0009324BeFreeThe 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.0.0343523612007TLR49117713024AG
rs4986790200938347099TLR4umls:C0009324BeFreeThe Toll-like receptor 4 D299G and T399I polymorphisms are associated with Crohn's disease and ulcerative colitis: a meta-analysis.0.0343523612010TLR49117713024AG
rs4986790151946497099TLR4umls:C0009324BeFreeWe have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC.0.0343523612004TLR49117713024AG
rs4986790234706447099TLR4umls:C0009324BeFreeTLR4 D299G polymorphism modulates cytokine expression in ulcerative colitis.0.0343523612014TLR49117713024AG
rs4986790229186827099TLR4umls:C0009324BeFreeThe 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.0.0343523612013TLR49117713024AG
rs4986790232399257099TLR4umls:C0009324BeFreeOverall, 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.0.0343523612012TLR49117713024AG
rs4986790186802237099TLR4umls:C0009324BeFreeTo 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.0.0343523612008TLR49117713024AG
rs4986791178504117099TLR4umls:C0009324BeFreeThe 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.0.0343523612007TLR49117713324CT
rs4986791200938347099TLR4umls:C0009324BeFreeThe Toll-like receptor 4 D299G and T399I polymorphisms are associated with Crohn's disease and ulcerative colitis: a meta-analysis.0.0343523612010TLR49117713324CT
rs4986791232399257099TLR4umls:C0009324BeFreeOverall, 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.0.0343523612012TLR49117713324CT
rs4986791229186827099TLR4umls:C0009324BeFreeThe 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.0.0343523612013TLR49117713324CT
rs4986791186802237099TLR4umls:C0009324BeFreeTo 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.0.0343523612008TLR49117713324CT
rs5030728247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014TLR49117712004GA
rs5030728247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014TLR49117712004GA
rs5030728247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014TLR49117712004GA
rs5030728247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014TLR49117712004GA
rs50307282477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014TLR49117712004GA
rs5030728247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014TLR49117712004GA
rs5030728247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014TLR49117712004GA
rs5030728247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014TLR49117712004GA
rs5030728247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014TLR49117712004GA
rs5030728247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014TLR49117712004GA
rs50307282477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014TLR49117712004GA
rs5030728247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014TLR49117712004GA
rs5030728247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014TLR49117712004GA
rs5030728247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014TLR49117712004GA
rs5030728247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014TLR49117712004GA
rs5743708193030217033TFF3umls:C0009324BeFreeThe 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.0.0008143262009TLR24153705165GA
rs5743708193030217097TLR2umls:C0009324BeFreeThe 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.0.0119969812009TLR24153705165GA
rs57438101637425110333TLR6umls:C0009324BeFreeThere was a negative association between TLR6 S249P and ulcerative colitis with proctitis only (P = .026, OR [95% CI] 0.223 [0.096-0.705]).0.0026384742006TLR6438828729AG
rs5743836194551299231DLG5umls:C0009324BeFreeThe 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.0.0071770412009TLR9352226766AG
rs57438361945512950941IBD5umls:C0009324BeFreeThe 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.0.0199124032009TLR9352226766AG
rs577106921297633400935IL17RELumls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.2450055062011IL17REL2249997051AG
rs577106920228798400935IL17RELumls:C0009324GAD[Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).]0.2450055062010IL17REL2249997051AG
rs577106921297633400935IL17RELumls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.2450055062011IL17REL2249997051AG
rs577106920228798400935IL17RELumls:C0009324GWASCATGenome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).0.2450055062010IL17REL2249997051AG
rs6017342199155723172HNF4Aumls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.1263627152009NA2044436388AC
rs6017342212976333172HNF4Aumls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1263627152011NA2044436388AC
rs60887652312823310544PROCRumls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.122012PROCR2035211477TG
rs64268331991557254546RNF186umls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.129739572009NA119845367GA
rs64268331991557223252OTUD3umls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.1294681282009NA119845367GA
rs64268331912266454546RNF186umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.129739572009NA119845367GA
rs64268332022879930814PLA2G2Eumls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0071010962010NA119845367GA
rs64268332129763354546RNF186umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.129739572011NA119845367GA
rs64268331912266423252OTUD3umls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.1294681282009NA119845367GA
rs64268332022879923252OTUD3umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.1294681282010NA119845367GA
rs64268331991557230814PLA2G2Eumls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.0071010962009NA119845367GA
rs64268332022879954546RNF186umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.129739572010NA119845367GA
rs64268331912266430814PLA2G2Eumls:C0009324GAD[Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.]0.0071010962009NA119845367GA
rs6451493212976331601DAB2umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0023670322011NA540410833GT
rs6532197226854166579SLCO1A2umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012NA489876150AG
rs6532197226854163663IRF5umls:C0009324BeFreeWe 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/rs1701704.0.1213572092012NA489876150AG
rs65321972268541622915MMRN1umls:C0009324BeFreeWe 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/rs1701704.0.0002714422012NA489876150AG
rs65696482491141460498IGAN1umls:C0009324BeFreeThese 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).0.0002714422014L3MBTL36130027974CT
rs6584283199155722805GOT1umls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.0071010962009LINC014751099530544TC
rs658428319915572101927324LINC01475umls:C0009324GWASCATGenome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.0.122009LINC014751099530544TC
rs658428321297633101927324LINC01475umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.122011LINC014751099530544TC
rs6584283212976332805GOT1umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0071010962011LINC014751099530544TC
rs6584283202287982805GOT1umls:C0009324GAD[Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).]0.0071010962010LINC014751099530544TC
rs65964732428444727034ACAD8umls:C0009324BeFreeGenomic 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.0.0100433492014SLC23A15139374887GC
rs6596473242844479963SLC23A1umls:C0009324BeFreeA 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).0.0002714422014SLC23A15139374887GC
rs67817021297633120400NXPE1umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.1223670322011NXPE111114561234AG
rs67817021297633120400NXPE1umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1223670322011NXPE111114561234AG
rs6785049212459928856NR1I2umls:C0009324BeFreePXR 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).0.0102587092011NR1I23119814886GA
rs6871626212976333593IL12Bumls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1340925712011NA5159399784CA
rs6887695257611853593IL12Bumls:C0009324BeFreeOur 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.0.1340925712015NA5159395637GC
rs6887695224796073593IL12Bumls:C0009324BeFreeOur 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).0.1340925712012NA5159395637GC
rs69084251917478054901CDKAL1umls:C0009324GAD[Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.]0.0050055062009CDKAL1620728500TC
rs692022021297633167826OLIG3umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0023670322011NA6137685367GA
rs6927022231282333117HLA-DQA1umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.1247340642012HLA-DQA1632644620AG
rs6927172247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014NA6137681038CG
rs6927172247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014NA6137681038CG
rs69271722477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014NA6137681038CG
rs6927172247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014NA6137681038CG
rs6927172247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014NA6137681038CG
rs6927172247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014NA6137681038CG
rs69271722477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014NA6137681038CG
rs6927172247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014NA6137681038CG
rs6927172247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014NA6137681038CG
rs6927172247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014NA6137681038CG
rs6927172247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014NA6137681038CG
rs6927172247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014NA6137681038CG
rs6927172247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014NA6137681038CG
rs6927172247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014NA6137681038CG
rs6927172247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014NA6137681038CG
rs696249714613586IL10umls:C0009324BeFreeThe 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.0.2946358942014NFKBIA1435401887CT
rs696249714617097TLR2umls:C0009324BeFreeThe 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.0.0119969812014NFKBIA1435401887CT
rs696249714617124TNFumls:C0009324BeFreeThe 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.0.187076072014NFKBIA1435401887CT
rs69624971461149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014NFKBIA1435401887CT
rs696249714617132TNFRSF1Aumls:C0009324BeFreeThe 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.0.0079154222014NFKBIA1435401887CT
rs696249714614790NFKB1umls:C0009324BeFreeThe 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.0.13125862014NFKBIA1435401887CT
rs696249714617099TLR4umls:C0009324BeFreeThe 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.0.0343523612014NFKBIA1435401887CT
rs6962497146123643LY96umls:C0009324BeFreeThe 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.0.0005428842014NFKBIA1435401887CT
rs696249714615468PPARGumls:C0009324BeFreeThe 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.0.0128971832014NFKBIA1435401887CT
rs6962497146126191PTPN22umls:C0009324BeFreeThe 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.0.0090011892014NFKBIA1435401887CT
rs6962497146154106TLR9umls:C0009324BeFreeThe 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.0.0087297472014NFKBIA1435401887CT
rs696249714613570IL6Rumls:C0009324BeFreeThe 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.0.0002714422014NFKBIA1435401887CT
rs696249714614792NFKBIAumls:C0009324BeFreeThe 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.0.0010857672014NFKBIA1435401887CT
rs6974491225925227332UBE2L3umls:C0009324BeFreeIn 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.0.0005428842012ELMO1737334906GA
rs697449122592522102723996LOC102723996umls:C0009324BeFreeIn 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.0.0005428842012ELMO1737334906GA
rs6974491225925229844ELMO1umls:C0009324BeFreeIn 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.0.0002714422012ELMO1737334906GA
rs697449122592522117289TAGAPumls:C0009324BeFreeIn 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.0.0002714422012ELMO1737334906GA
rs7138752491141460498IGAN1umls:C0009324BeFreeThese 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).0.0002714422014HORMAD2;LOC1053729882230196498CG
rs721008623128233201266SLC39A11umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.122012SLC39A111772645559AC
rs7222094247768443458IFNGumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0115300422014MAP3K141745290287TC
rs7222094247768443605IL17Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0077958692014MAP3K141745290287TC
rs72220942477684423643LY96umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0005428842014MAP3K141745290287TC
rs7222094247768443557IL1RNumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0334521592014MAP3K141745290287TC
rs72220942477684454106TLR9umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0087297472014MAP3K141745290287TC
rs7222094247768449020MAP3K14umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0002714422014MAP3K141745290287TC
rs7222094247768447132TNFRSF1Aumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0079154222014MAP3K141745290287TC
rs7222094247768444790NFKB1umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.13125862014MAP3K141745290287TC
rs7222094247768443553IL1Bumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.1440699072014MAP3K141745290287TC
rs7222094247768444695NDUFA2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0035287442014MAP3K141745290287TC
rs7222094247768447128TNFAIP3umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0029099162014MAP3K141745290287TC
rs7222094247768447099TLR4umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0343523612014MAP3K141745290287TC
rs7222094247768447124TNFumls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.187076072014MAP3K141745290287TC
rs7222094247768443569IL6umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0095103972014MAP3K141745290287TC
rs7222094247768447097TLR2umls:C0009324BeFreeNineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).0.0119969812014MAP3K141745290287TC
rs72340292245778155054ATG16L1umls:C0009324BeFreeEpistasis 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.0.032833332012PTPN21812877061AG
rs73499921297633100996583LOC100996583umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.122011LOC10099658312581777CT
rs734999212976338764TNFRSF14umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0023670322011LOC10099658312581777CT
rs744166222691209034CCRL2umls:C0009324BeFreeHere, 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.0.0010857672012STAT31742362183AG
rs744166252863376774STAT3umls:C0009324BeFreeAssociations between STAT3 rs744166 polymorphisms and susceptibility to ulcerative colitis and Crohn's disease: a meta-analysis.0.1352542842014STAT31742362183AG
rs744166220651126774STAT3umls:C0009324BeFreeOur 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.0.1352542842012STAT31742362183AG
rs744166220651123717JAK2umls:C0009324BeFreeOur 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.0.1313682212012STAT31742362183AG
rs74825699212459924790NFKB1umls:C0009324BeFreeGenotypes 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.0.13125862011NR1I23119783118GA
rs74825699212459928856NR1I2umls:C0009324BeFreePXR 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).0.0102587092011NR1I23119783118GA
rs751784722735800149233IL23Rumls:C0009324BeFreeIL-23 receptor gene rs7517847 and rs1004819 SNPs in ulcerative colitis.0.3269362722014IL23R167215986TG
rs751784718383521149233IL23Rumls:C0009324BeFreeThe 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).0.3269362722008IL23R167215986TG
rs75241022129763354361WNT4umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0047340642011NA122371954AG
rs75241021991557254361WNT4umls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.0047340642009NA122371954AG
rs75286841738901464127NOD2umls:C0009324BeFreeOur 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.0.2339798922007FCRL31157701026AG
rs753051124611330149233IL23Rumls:C0009324BeFreeThe 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.0.3269362722014IL23R167219704TC
rs753051119294505149233IL23Rumls:C0009324BeFreeThe results suggest that IL23R R381Q confers protection against CD and that L310P confers protection against UC in females.0.3269362722010IL23R167219704TC
rs753051125159710149233IL23Rumls:C0009324BeFreeWe found that IL23R (L310P) variant conferred a protective effect for crohn's disease (CD) but not ulcerative colitis (UC) patients.0.3269362722014IL23R167219704TC
rs75545112129763355765C1orf106umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.1247340642011C1orf1061200908434CA
rs75545111991557255765C1orf106umls:C0009324GWASCATGenome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.0.1247340642009C1orf1061200908434CA
rs75545112129763355765C1orf106umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1247340642011C1orf1061200908434CA
rs75545111991557255765C1orf106umls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.1247340642009C1orf1061200908434CA
rs75545111991557223046KIF21Bumls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.1223670322009C1orf1061200908434CA
rs7568275204544506775STAT4umls:C0009324BeFreeGenomic 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).0.0063627152010STAT42191101726GC
rs7574865187592726775STAT4umls:C0009324BeFreeThe 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).0.0063627152008STAT42191099907TG
rs7574865204544506775STAT4umls:C0009324BeFreeGenomic 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).0.0063627152010STAT42191099907TG
rs7582694204544506775STAT4umls:C0009324BeFreeGenomic 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).0.0063627152010STAT42191105394CG
rs760891021297633150962PUS10umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.1271010962011PUS10260977721AG
rs760891021297633150962PUS10umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1271010962011PUS10260977721AG
rs76378023652560112744IL17Fumls:C0009324BeFreeThe 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.0.0037242412013IL17F;LOC105375088652236941TC
rs76378018088064149233IL23Rumls:C0009324BeFreeGiven 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).0.3269362722008IL17F;LOC105375088652236941TC
rs7744241898454615MYD88umls:C0009324BeFreeThe *1244 A>G polymorphism of MyD88 (rs7744) is closely associated with susceptibility to ulcerative colitis.0.0008143262013MYD88338142530AG
rs78097992022879857154SMURF1umls:C0009324GAD[Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).]0.0023670322010NA799162881GA
rs798502212976332768GNA12umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.2426384742011GNA12;AMZ172750246AC
rs798502231282332768GNA12umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.2426384742012GNA12;AMZ172750246AC
rs798502212976332768GNA12umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.2426384742011GNA12;AMZ172750246AC
rs806737820228799124626ZPBP2umls:C0009324GAD[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.]0.0047340642010NA1739895095AG
rs8179673204544506775STAT4umls:C0009324BeFreeGenomic 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).0.0063627152010STAT42191104615CT
rs886774199155723912LAMB1umls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.127643982009NA7107854989GA
rs886774199155721811SLC26A3umls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.1321066022009NA7107854989GA
rs907611212976334046LSP1umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.2423670322011LSP1111852842GA
rs907611212976334046LSP1umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.2423670322011LSP1111852842GA
rs9179971843955064127NOD2umls:C0009324BeFreeJoint 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).0.2339798922008NA2102454108TC
rs925847201760356775STAT4umls:C0009324BeFreeSNP 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.0.0063627152010STAT4;LOC1053738052191032814CT
rs92637391991557354535CCHCR1umls:C0009324GWASCATA genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.0.1223670322009CCHCR1631143579CT
rs92637391991557354535CCHCR1umls:C0009324GAD[A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.]0.1223670322009CCHCR1631143579CT
rs92684801991557356244BTNL2umls:C0009324GAD[A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.]0.0174694262009BTNL2;LOC101929163632396067CT
rs9268877188364483122HLA-DRAumls:C0009324GAD[Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.]0.0121066022008NA632463370AG
rs92688771883644856244BTNL2umls:C0009324GAD[Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.]0.0174694262008NA632463370AG
rs9268923202287983122HLA-DRAumls:C0009324GAD[Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).]0.0121066022010NA632465058CT
rs94182321297633646982LINC00598umls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.122011LINC005981340439840TC
rs9418232129763357511COG6umls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0047340642011LINC005981340439840TC
rs943072212976337422VEGFAumls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.0034527992011NA643828231GT
rs95489881991557257511COG6umls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.0047340642009NA1339931373CT
rs982226821297633327APEHumls:C0009324GWASCATMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.0.1223670322011APEH349682296GA
rs982226821297633327APEHumls:C0009324GAD[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.]0.1223670322011APEH349682296GA
rs98477102312823351460SFMBT1umls:C0009324GWASCATHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.0.122012SFMBT1;LOC105377135353028645TC
rs9858542199155728927BSNumls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.1226384742009BSN349664550GA
rs9858542199155728927BSNumls:C0009324GWASCATGenome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.0.1226384742009BSN349664550GA
rs9858542199155724485MST1umls:C0009324GAD[Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.]0.2540925712009BSN349664550GA
rs9858542200249044485MST1umls:C0009324BeFreeBSN 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)).0.2540925712010BSN349664550GA
GWASdb Annotation(Total Genotypes:0)
(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
12501338rs10797432CTrs10797432231282333.00E-12NA1.08[1.04-1.12] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs10797432-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
12513216rs734999CTrs734999212976333.00E-09NA1.05[1.01-1.09] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs734999-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
18021973rs35675666GTrs35675666212976335.00E-09NA1.08[1.02-1.15] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs35675666-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
120140036rs1317209GArs1317209202287992.00E-10NA1.17NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1317209-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
120142866rs3806308CTrs3806308191226647.00E-09NA1.28NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
120171860rs6426833GArs6426833191226645.00E-13NA1.37NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6426833-GResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
120171860rs6426833GArs6426833199155722.00E-11NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
120171860rs6426833GArs6426833202287992.00E-21NA1.3NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6426833-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
120171860rs6426833GArs6426833212976334.00E-35NA1.3[1.25-1.35]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6426833-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
120171860rs6426833GArs6426833231282332.00E-68NA1.27[1.22-1.31] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6426833-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
120171860rs6426833GArs6426833235110347.22E-08NA1.53[1.31-1.79]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6426833-AResearch Support, Non-U.S. Gov'tComparative StudyG
120200990rs4654903AGrs4654903235110347.00E-09NA1.56[1.35-1.82]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tComparative StudyG
120227723rs4654925GC,Trs4654925202287989.00E-22NA1.41[1.30-1.54]1,043 German cases; 1,703 German controlsGerman(2746)ALL(2746)EUR(2746)ALL(2746)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4654925-GResearch Support, Non-U.S. Gov'tGOTUD3
122698447rs7524102AGrs7524102199155723.00E-07NA1.1[1.00-1.21] 2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs7524102-AResearch Support, Non-U.S. Gov'tGNA
122698447rs7524102AGrs7524102212976332.00E-13NA1.1[1.05-1.16]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs7524102-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
122702231rs12568930TCrs12568930199155721.40E-07NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tTNA
167694202rs2201841AGrs2201841202287991.00E-13NA1.27NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2201841-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
167705958rs11209026GArs11209026191226641.00E-08NA1.79NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
167705958rs11209026GArs11209026199155723.00E-10NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGIL23R
167705958rs11209026GArs11209026212976335.00E-28NA1.74[1.57-1.92]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs11209026-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
167725120rs10889677CArs10889677191226641.00E-08NA1.29NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs10889677-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
1161462728rs4657039AGrs4657039199155732.20E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tANA
1161463331rs7511868GArs7511868199155735.42E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tANA
1161463814rs6696854TCrs6696854199155733.65E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tT,CNA
1161464412rs6684851CTrs6684851199155733.67E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tCNA
1161470505rs12139150GCrs12139150199155732.81E-06NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1161472158rs10800309AGrs10800309199155732.22E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1161472158rs10800309AGrs10800309202287993.00E-09NA1.2NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs10800309-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
1161478810rs6671847GArs6671847199155738.50E-09NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGFCGR2A
1161479745rs1801274AGrs1801274199155732.00E-12NA1.59[1.39-1.82]376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1801274-GResearch Support, Non-U.S. Gov'tTFCGR2A
1161479745rs1801274AGrs1801274212976332.00E-20NA1.21[1.16-1.26]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1801274-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1161479745rs1801274AGrs1801274235110342.12E-04NA1.33[1.14-1.54]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1801274-AResearch Support, Non-U.S. Gov'tComparative StudyT
1198656407rs2359952AGrs2359952248371724.00E-07NA1.31[1.13-1.51] 603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2359952-AResearch Support, Non-U.S. Gov'tGPTPRC
1200101920rs2816958AGrs2816958231282332.00E-17NA1.23[1.16-1.30] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2816958-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1200877562rs7554511CArs7554511199155721.00E-06NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tCC1orf106
1200877562rs7554511CArs7554511212976332.00E-13NA1.19[1.14-1.25]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs7554511-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1200935866rs11584383TCrs11584383202287992.00E-07NA1.27NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs11584383-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
1206939904rs3024505GArs3024505188364481.00E-12NA1.46[1.31-1.62]1,167 cases; 777 controlsNOPOP(1944)ALL(1944)NOPOP(1944)ALL(1944)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs3024505-TResearch Support, Non-U.S. Gov'tCNA
1206939904rs3024505GArs3024505202287991.00E-08NA1.23NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs3024505-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
1206939904rs3024505GArs3024505212976336.00E-17NA1.25[1.19-1.32]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs3024505-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1206943968rs3024493CArs3024493199155728.00E-08NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGIL10
1206943968rs3024493CArs3024493202287981.00E-12NA1.35[1.22-1.50]1,043 German cases; 1,703 German controlsGerman(2746)ALL(2746)EUR(2746)ALL(2746)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs3024493-TResearch Support, Non-U.S. Gov'tGIL10
1206959527rs17351243GArs17351243199155738.42E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1206961628rs12075255AGrs12075255199155731.87E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1206962416rs885334CTrs885334199155731.98E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1206968893rs11583394CTrs11583394199155735.60E-06NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tTNA
1216789443rs6673588TGrs6673588199155733.83E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGESRRG
215843840rs1862101TCrs1862101199155738.11E-06NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tANA
215856372rs6746441AGrs6746441199155732.72E-06NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
215862330rs7591368CArs7591368199155736.07E-07NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tCNA
261186829rs13003464AGrs13003464202287997.00E-09NA1.13NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs13003464-GResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
261204856rs7608910AGrs7608910212976332.00E-14NA1.19[1.14-1.24]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs7608910-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
280915734rs17019600CArs17019600199155725.10E-05NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tCNA
2102663628rs2310173TGrs2310173212976333.00E-12NA1.09[1.05-1.14]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2310173-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2102957716rs1420101CTrs1420101248371726.00E-04NA1.2[1.04-1.39]603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1420101-GResearch Support, Non-U.S. Gov'tAIL1RL1
2198265526rs788018AGrs788018248371727.00E-04NA1.22[1.04-1.43]603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs788018-GResearch Support, Non-U.S. Gov'tGSF3B1
2198369370rs6434930TCrs6434930248371723.00E-04NA1.22[1.05-1.43]603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6434930-GResearch Support, Non-U.S. Gov'tCHSPE1-MOB4
2198403697rs3792159CTrs3792159248371721.00E-04NA1.23[1.06-1.44]603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs3792159-AResearch Support, Non-U.S. Gov'tAMOB4
2198881668rs1016883GArs1016883231282333.00E-08NA1.1[1.05-1.15] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1016883-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2199523122rs17229285CTrs17229285231282332.00E-13NA1.12[1.08-1.16] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs17229285-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2200290359rs1992950AGrs1992950202287995.00E-06NA1.1NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1992950-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
2219010146rs11676348CTrs11676348212976331.00E-10NA1.07[1.03-1.11]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs11676348-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2241579108rs4676406GTrs4676406212976338.00E-11NA1.14[1.09-1.18]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4676406-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2241597150rs6437358GCrs6437358199155725.90E-07NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
349701983rs9858542GArs9858542199155727.00E-09NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGBSN
349719729rs9822268GArs9822268212976332.00E-17NA1.21[1.16-1.26]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs9822268-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
349721532rs3197999GArs3197999202287994.00E-09NA1.2NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs3197999-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
353062661rs9847710TCrs9847710231282331.00E-08NA1.06[1.03-1.10] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs9847710-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
3175806373rs9875122CTrs9875122199155739.58E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tCNA
4103511114rs3774959GArs3774959231282334.00E-12NA1.12[1.08-1.16] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs3774959-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
4123329362rs17388568GArs17388568212976339.00E-07NA1.12[1.07-1.17] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs17388568-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
4180284814rs6811556TCrs6811556208484769.00E-06Ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralT
5583442rs4957048GArs4957048202287991.00E-09NA1.3NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4957048-CResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
5594083rs11739663TCrs11739663212976333.00E-08NA1.15[1.09-1.21] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs11739663-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
5594083rs11739663TCrs11739663231282332.00E-08NA1.07[1.03-1.12] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs11739663-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
510752315rs267939CTrs267939212976336.00E-12NA1.1[1.06-1.15]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs267939-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
535876274rs3194051AGrs3194051212976334.00E-08NA1.07[1.02-1.12] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs3194051-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
540410935rs6451493GTrs6451493212976333.00E-09NA1.08[1.04-1.12] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6451493-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
5107834247rs4571457CTrs4571457208484767.00E-06Ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralT
5134443606rs254560GArs254560212976331.00E-09NA1.07[1.03-1.12] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs254560-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
5134443606rs254560GArs254560231282333.00E-09NA1.06[1.02-1.09] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs254560-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
5158826792rs6871626CArs6871626212976331.00E-21NA1.17[1.12-1.22]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6871626-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
629934163rs6935053ACrs6935053235110342.00E-06Conditioned on rs9271366NANA388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tComparative StudyC
630799399rs9501030TArs9501030208484764.00E-06Ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralA
631111356rs9263739CTrs9263739199155734.00E-67NA2.73[2.43-3.07]376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs9263739-TResearch Support, Non-U.S. Gov'tCCCHCR1
631448862rs3749946CArs3749946248371722.00E-15NA1.97[1.66-2.33] 603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs3749946-AResearch Support, Non-U.S. Gov'tNANA
631603591rs2261033AGrs2261033248371721.81E-08NA1.34[1.21-1.48]603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2261033-GResearch Support, Non-U.S. Gov'tTPRRC2A
631726688rs707939CArs707939248371727.02E-10NA1.51[1.32-1.72]603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs707939-AResearch Support, Non-U.S. Gov'tGMSH5
631777946rs2075800CTrs2075800248371722.44E-10NA1.41[1.27-1.56]603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2075800-AResearch Support, Non-U.S. Gov'tGHSPA1L
631843924rs2736428CTrs2736428248371724.86E-11NA1.43[1.28-1.59]603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2736428-AResearch Support, Non-U.S. Gov'tGSLC44A4
631917540rs4151657TCrs4151657248371725.00E-14NA1.54[1.38-1.73] 603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4151657-GResearch Support, Non-U.S. Gov'tTCFB
632079567rs17207986TCrs17207986208484761.00E-16Ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralC,T
632205045rs549182GArs549182248371728.00E-10NA1.59[1.37-1.85] 603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs549182-AResearch Support, Non-U.S. Gov'tGNA
632363844rs9268480CTrs9268480199155733.00E-06NA1.82[1.43-2.33] 376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs9268480-GResearch Support, Non-U.S. Gov'tCBTNL2
632429643rs9268853TCrs9268853212976331.00E-55NA1.4[1.34-1.47]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs9268853-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
632429643rs9268853TCrs9268853235110343.00E-06NA1.37[1.20-1.56]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs9268853-TResearch Support, Non-U.S. Gov'tComparative StudyT
632431147rs9268877AGrs9268877188364486.00E-18NA1.45[1.33-1.58]1,167 cases; 777 controlsNOPOP(1944)ALL(1944)NOPOP(1944)ALL(1944)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs9268877-TResearch Support, Non-U.S. Gov'tGNA
632431147rs9268877AGrs9268877199155724.00E-23NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
632432835rs9268923CTrs9268923202287984.00E-15NA1.45[1.33-1.59]1,043 German cases; 1,703 German controlsGerman(2746)ALL(2746)EUR(2746)ALL(2746)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs9268923-CResearch Support, Non-U.S. Gov'tCNA
632433167rs2395185GTrs2395185191226641.00E-16NA1.52NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
632433167rs2395185GTrs2395185199155735.00E-22NA1.92[1.68-2.19]376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2395185-GResearch Support, Non-U.S. Gov'tGNA
632509357rs28772724GTrs28772724208484761.34E-08Medically refractory ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitis, refractoryHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisNANANANAUlcerative colitisNAResearch Support, N.I.H., ExtramuralG
632586854rs9271366GArs9271366235110341.00E-18NA2.1[1.78-2.48]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs9271366-GResearch Support, Non-U.S. Gov'tComparative StudyA
632612397rs6927022AGrs6927022231282335.00E-133NA1.44[1.39-1.50] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6927022-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
632800224rs2228397CArs2228397248371721.04E-05NA1.28[1.15-1.43]603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2228397-AResearch Support, Non-U.S. Gov'tGTAP2
643795968rs943072GTrs943072212976332.00E-10NA1.15[1.08-1.23]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs943072-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
6106522027rs6911490TCrs6911490212976331.00E-08NA1.08[1.03-1.13] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6911490-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
6134661885rs379977ACrs379977199155737.34E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
6138006504rs6920220GArs6920220212976338.00E-17NA1.14[1.09-1.20]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6920220-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
6146824085rs4543390CGrs4543390199155721.10E-06NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
72789880rs798502ACrs798502212976333.00E-15NA1.13[1.08-1.18]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs798502-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
72789880rs798502ACrs798502231282336.00E-17NA1.13[1.08-1.17] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs798502-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
718800413rs11764116GTrs11764116208484762.00E-06Ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralT
727231762rs4722672CTrs4722672231282332.00E-08NA1.09[1.04-1.14] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4722672-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
781857893rs929351TGrs929351208484768.00E-06Ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralT
798760504rs7809799GArs7809799202287989.00E-11NA1.56[1.36-1.78]1,043 German cases; 1,703 German controlsGerman(2746)ALL(2746)EUR(2746)ALL(2746)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs7809799-GResearch Support, Non-U.S. Gov'tANA
7107453103rs2108225GArs2108225199155731.00E-07NA1.32[1.19-1.47] 376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2108225-AResearch Support, Non-U.S. Gov'tANA
7107479519rs4730273CArs4730273191226645.00E-06NA1.22NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
7107480315rs4380874TCrs4380874231282332.00E-26NA1.14[1.10-1.18] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4380874-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
7107484437rs4730276GArs4730276191226649.00E-06NA1.22NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
7107492789rs4510766AGrs4510766212976332.00E-16NA1.2[1.15-1.26]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4510766-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
7107495434rs886774GArs886774199155723.00E-08NA1.11[1.03-1.19] 2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs886774-GResearch Support, Non-U.S. Gov'tANA
7107503441rs4598195ACrs4598195191226641.00E-06NA1.23NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
7107503441rs4598195ACrs4598195202287998.00E-08NA1.09NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4598195-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
7107580839rs2158836AGrs2158836191226647.00E-06NA1.21NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2158836-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
7128573967rs4728142GArs4728142212976332.00E-08NA1.07[1.03-1.11] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4728142-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
7128573967rs4728142GArs4728142231282334.00E-14NA1.1[1.07-1.14] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4728142-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
7128573967rs4728142GArs4728142235110343.35E-04NA1.38[1.16-1.65]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4728142-AResearch Support, Non-U.S. Gov'tComparative StudyG,A
94981602rs10758669CArs10758669202287991.00E-06NA1.22NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs10758669-CResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
94981602rs10758669CArs10758669212976332.00E-25NA1.17[1.12-1.21]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs10758669-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
94981602rs10758669CArs10758669235110343.83E-05NA1.31[1.15-1.49]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs10758669-CResearch Support, Non-U.S. Gov'tComparative StudyA
94981602rs10758669CArs10758669235110346.59E-05NA1.21[1.10-1.34]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs10758669-CResearch Support, Non-U.S. Gov'tComparative StudyA
95213687rs10975003TCrs10975003199155731.00E-06NA1.34[1.18-1.51] 376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs10975003-CResearch Support, Non-U.S. Gov'tCNA
97209284rs7020238TCrs7020238199155722.70E-05NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tCNA
985311147rs668853CTrs668853191226642.00E-06NA1.2NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs668853-GResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
9117553249rs4246905TCrs4246905212976336.00E-12NA1.1[1.05-1.15]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4246905-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
9117605070rs11554257TCrs11554257208484761.39E-06Medically refractory ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitis, refractoryHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisNANANANAUlcerative colitisNAResearch Support, N.I.H., ExtramuralT
9139266405rs10781499GArs10781499212976333.00E-19NA1.12[1.08-1.17]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs10781499-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
9139266496rs4077515CTrs4077515202287995.00E-08NA1.14NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4077515-CResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
9139269338rs10781500CTrs10781500199155727.00E-06NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tCCARD9
1029349286rs1773842GArs1773842199155739.32E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tTNA
1035554054rs12261843TGrs12261843212976337.00E-10NA1.07[1.03-1.12]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs12261843-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1035554054rs12261843TGrs12261843235110348.33E-04NA1.26[1.10-1.44]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs12261843-GResearch Support, Non-U.S. Gov'tComparative StudyT
10101290301rs6584283TCrs6584283199155722.00E-07NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tCNA
10101290301rs6584283TCrs6584283202287982.00E-06NA1.22[1.12-1.32] 1,043 German cases; 1,703 German controlsGerman(2746)ALL(2746)EUR(2746)ALL(2746)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6584283-TResearch Support, Non-U.S. Gov'tCNA
10101290301rs6584283TCrs6584283212976338.00E-21NA1.21[1.16-1.26]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6584283-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
10101291593rs11190140TCrs11190140202287991.00E-08NA1.2NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs11190140-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
111874072rs907611GArs907611212976331.00E-10NA1.08[1.03-1.13]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs907611-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1113925559rs12271425GCrs12271425199155722.10E-05NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1124356464rs7950920GArs7950920199155734.32E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tANA
1176299194rs2155219GTrs2155219212976335.00E-16NA1.13[1.08-1.17]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2155219-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1196023427rs483905GArs483905231282331.00E-08NA1.06[1.02-1.10] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs483905-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
11114386830rs561722CTrs561722231282335.00E-17NA1.12[1.08-1.16] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs561722-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
11114431956rs678170AGrs678170212976335.00E-14NA1.09[1.05-1.14]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs678170-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1221976428rs4148677CTrs4148677248371722.26E-05NA1.32[1.10-1.58]603 North Indian ancestry cases; 622 North Indian ancestry controlsNorth Indian(1225)ALL(1225)SAN(1225)ALL(1225)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4148677-GResearch Support, Non-U.S. Gov'tGABCC9
1268500075rs7134599GArs7134599212976331.00E-16NA1.19[1.19-1.24]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs7134599-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1268504592rs1558744GArs1558744191226643.00E-12NA1.35NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1558744-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
1268504592rs1558744GArs1558744202287994.00E-12NA1.16NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1558744-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
1268504592rs1558744GArs1558744208484769.03E-05Medically refractory ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitis, refractoryHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisNANANANAUlcerative colitisNAResearch Support, N.I.H., ExtramuralA
1268596661rs2870946TCrs2870946191226645.00E-07NA1.54NA1,022 cases; 2,503 controlsNOPOP(3525)ALL(3525)NOPOP(3525)ALL(3525)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2870946-GResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
1327531267rs17085007TCrs17085007199155737.00E-08NA1.35[1.21-1.51] 376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs17085007-CResearch Support, Non-U.S. Gov'tTNA
1327531267rs17085007TCrs17085007212976331.00E-16NA1.16[1.10-1.21]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs17085007-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1327531267rs17085007TCrs17085007235110343.00E-07NA1.37[1.22-1.55]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs17085007-CResearch Support, Non-U.S. Gov'tComparative StudyT
1327531267rs17085007TCrs17085007235110348.00E-06NA1.4[1.21-1.63]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs17085007-CResearch Support, Non-U.S. Gov'tComparative StudyT
1327533642rs9553939GArs9553939199155734.60E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1327537873rs6491170TCrs6491170199155738.11E-06NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tCNA
1327542276rs3897233CArs3897233199155721.20E-06NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tTNA
1327543757rs6650264CTrs6650264199155734.00E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tTNA
1340505510rs9548988CTrs9548988199155723.00E-07NA1.1[1.03-1.19] 2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs9548988-TResearch Support, Non-U.S. Gov'tTNA
1341013977rs941823TCrs941823212976334.00E-12NA1.12[1.07-1.17]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs941823-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1379550934rs7319358CTrs7319358208484763.00E-06Ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralC
1429132877rs1956388GArs1956388208484762.00E-06Ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralT
1475734471rs8004059GArs8004059199155739.61E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1475747118rs1063169GTrs1063169235110341.20E-05NA1.27[1.14-1.41]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tComparative StudyG
1477138110rs17104722GCrs17104722199155723.90E-06NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1482669795rs9323719CTrs9323719199155731.37E-06NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tTNA
1541563950rs28374715AGrs28374715231282332.00E-08NA1.08[1.04-1.13] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs28374715-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1610975311rs4781011TGrs4781011202287993.00E-06NA1.12NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs4781011-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
1618023977rs1428103CTrs1428103199155726.00E-06NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1620030832rs2764742CTrs2764742199155726.80E-07NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tTNA
1630482494rs11150589TCrs11150589231282336.00E-10NA1.09[1.05-1.13] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs11150589-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1668573945rs1182968CTrs1182968208484765.66E-04Medically refractory ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitis, refractoryHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisNANANANAUlcerative colitisNAResearch Support, N.I.H., ExtramuralG
1668591230rs1728785ACrs1728785199155723.00E-08NA1.17[1.07-1.27] 2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1728785-GResearch Support, Non-U.S. Gov'tCZFP90
1668591230rs1728785ACrs1728785231282334.00E-08NA1.08[1.03-1.12] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1728785-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1668674788rs6499188GArs6499188212976334.00E-08NA1.14[1.09-1.20] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6499188-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1681959952rs7201045AGrs7201045199155739.02E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGPLCG2
1681960200rs8063604AGrs8063604199155732.77E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tAPLCG2
1681960365rs12446596CTrs12446596199155732.45E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tTPLCG2
1686009740rs16940186TCrs16940186235110344.00E-10NA1.56[1.36-1.80]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs16940186-GResearch Support, Non-U.S. Gov'tComparative StudyT
1686014241rs16940202TCrs16940202212976336.00E-19NA1.15[1.10-1.21]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs16940202-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1686014241rs16940202TCrs16940202235110343.00E-09NA1.52[1.32-1.74]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs16940202-CResearch Support, Non-U.S. Gov'tComparative StudyC
1686827339rs13337840AGrs13337840199155729.00E-07NANANA2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tGNA
1738040763rs2872507GArs2872507212976335.00E-11NA1.15[1.10-1.19]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2872507-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1738040763rs2872507GArs2872507235110346.04E-04NA1.26[1.10-1.45]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2872507-AResearch Support, Non-U.S. Gov'tComparative StudyG
1738051348rs8067378AGrs8067378202287991.00E-07NA1.12NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs8067378-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
1738062196rs2305480GArs2305480202287993.00E-08NA1.15NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2305480-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
1770641698rs7210086ACrs7210086231282332.00E-09NA1.11[1.06-1.16] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs7210086-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1947123783rs1126510AGrs1126510231282332.00E-09NA1.08[1.04-1.11] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1126510-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2031718653rs6059101CTrs6059101208484764.00E-06Ulcerative colitisNANA861 British cases; 2601 European ancestry non-IBD controlsBritish(861)European(2601)ALL(3462)EUR(3462)ALL(3462)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, N.I.H., ExtramuralC
2033799280rs6088765TGrs6088765231282332.00E-08NA1.08[1.04-1.12] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6088765-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2043065028rs6017342ACrs6017342199155729.00E-17NA1.17[1.09-1.26]2,361 European ancestry cases; 5,417 European ancestry controlsEuropean(7778)ALL(7778)EUR(7778)ALL(7778)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6017342-CResearch Support, Non-U.S. Gov'tCNA
2043065028rs6017342ACrs6017342212976331.00E-20NA1.2[1.15-1.26]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6017342-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2043065028rs6017342ACrs6017342231282331.00E-43NA1.23[1.19-1.27] Up to 12,924 European ancestry cases; up to 21,442 European ancestry controlsEuropean(34366)ALL(34366)EUR(34366)ALL(34366)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs6017342-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2062327582rs2297441GArs2297441212976332.00E-10NA1.09[1.04-1.15]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2297441-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2116805220rs1736135TCrs1736135202287992.00E-07NA1.2NA2,693 European descent cases; 6,791 European descent controlsEuropean(9484)ALL(9484)EUR(9484)ALL(9484)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1736135-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
2116817051rs1297265AGrs1297265212976337.00E-13NA1.11[1.06-1.15]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs1297265-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2140465534rs2836878GArs2836878212976332.00E-22NA1.25[1.20-1.32]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2836878-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2141986768rs2837751CArs2837751199155732.99E-05NANANA376 Japanese cases; 934 Japanese controlsJapanese(1310)ALL(1310)ASN(1310)ALL(1310)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisNAResearch Support, Non-U.S. Gov'tADSCAM
2145615023rs2838519GArs2838519212976336.00E-11NA1.14[1.05-1.22]6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs2838519-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2221939675rs5754217GTrs5754217235110349.84E-07NA1.26[1.15-1.37]388 Korean ancestry cases; 739 Korean ancestry controlsKorean(1127)ALL(1127)ASN(1127)ALL(1127)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs5754217-TResearch Support, Non-U.S. Gov'tComparative StudyT
2250435480rs5771069AGrs5771069202287984.00E-08NA1.17[1.11-1.25] 1,043 German cases; 1,703 German controlsGerman(2746)ALL(2746)EUR(2746)ALL(2746)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs5771069-GResearch Support, Non-U.S. Gov'tGIL17REL
2250435480rs5771069AGrs5771069212976332.00E-07NA1.11[1.07-1.16] 6,687 European ancestry cases; 19,718 European ancestry controlsEuropean(26405)ALL(26405)EUR(26405)ALL(26405)Ulcerative colitisHPOID:0100279Ulcerative colitisDOID:8577ulcerative colitisD003093Colitis, UlcerativeEFOID:0000729ulcerative colitisUlcerative colitisrs5771069-GResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
Mapped by lexical matching(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0000407Sensorineural hearing impairmentMP:0006330syndromic hearing impairment;HP:0001937Microangiopathic hemolytic anemia
Mapped by homologous gene(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0002584Intestinal bleedingMP:0000260abnormal angiogenesis;HP:0000407Sensorineural hearing impairment
Chemical(Total Drugs:5)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0009324capsaicinD002211404-86-4colitis, ulcerativeMESH:D003093therapeutic15573930
C0009324cyclosporineD01657259865-13-3colitis, ulcerativeMESH:D003093marker/mechanism26276312
C0009324nicotineD009538-colitis, ulcerativeMESH:D003093therapeutic15976189
C0009324rosiglitazoneC089730-colitis, ulcerativeMESH:D003093therapeutic20087330
C0009324thalidomideD01379250-35-1colitis, ulcerativeMESH:D003093therapeutic17269997
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)