eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pancreatitis | ||||
| Disease ID | 591 |
|---|---|
| Disease | pancreatitis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:114) C2712323 | hypoglycaemia C2700565 | pancreatic cancer C2632116 | stenosis C2598155 | pain C2585575 | recurrent abdominal pain C2364133 | infection C2364072 | depression C2240374 | eosinophilia C2203646 | jaundice C2073625 | pleural effusion C2020637 | chronic pain C1963165 | malabsorption C1963138 | hypertension C1962966 | retinopathy C1962958 | hematoma C1839611 | n syndrome C1801950 | g syndrome C1660219 | analgesia C1550639 | fistula C1546533 | abscess C1535535 | pleurisy C1455728 | acute fatty liver of pregnancy C1405128 | pleural fistula C1402315 | vascular lesions C1393529 | vascular complications C1262155 | necrotizing panniculitis C1258215 | ileus C1253937 | pericardial effusion C0947622 | gallstones C0597984 | biliary stricture C0585110 | hemorrhagic pleural effusion C0456909 | vision loss C0426768 | o sign C0422833 | ent symptoms C0341426 | small bowel infarction C0341365 | colonic fistula C0339477 | lipemia retinalis C0272412 | splenic abscess C0271650 | impaired glucose tolerance C0271640 | secondary diabetes mellitus C0267925 | bile duct stenosis C0267466 | colonic stenosis C0267412 | mesenteric venous thrombosis C0267373 | intestinal hemorrhages C0267373 | intestinal bleeding C0267156 | emphysematous gastritis C0264973 | pancreaticoduodenal artery aneurysm C0264551 | exudative pleurisy C0264541 | pleural calcification C0238334 | pancreatic abscess C0235328 | colonic obstruction C0233205 | halo sign C0221773 | hyperamylasemia C0220983 | metabolic alkalosis C0155773 | portal vein thrombosis C0155760 | artery rupture C0152165 | persistent vomiting C0152025 | polyneuropathy C0085693 | acute appendicitis C0041956 | ureteral obstruction C0040188 | tic disorders C0040127 | thyroid crisis C0040053 | thrombosis C0037140 | b virus infection C0035222 | acute respiratory distress syndrome C0033975 | psychotic disorders C0032231 | pleuritis C0032227 | pleural effusions C0031039 | pericardial effusions C0030920 | ulcer disease C0030326 | panniculitis C0030299 | pancreatic pseudocyst C0030290 | pancreatic fistulas C0030290 | pancreatic fistula C0030283 | pancreatic cyst C0030200 | intractable pain C0027765 | neurological disorders C0027765 | neurologic disorders C0026782 | mumps C0025637 | methemoglobinemia C0025517 | metabolism disorders C0022660 | acute kidney failure C0022354 | obstructive jaundice C0022116 | ischemia C0021843 | intestinal occlusion C0021308 | infarction C0020598 | hypocalcemia C0020541 | portal hypertension C0020476 | hyperlipoproteinemia C0020473 | hyperlipemia C0020456 | hyperglycemia C0020437 | hypercalcemia C0019243 | hereditary angioedema C0019202 | wilson's disease C0019080 | hemorrhage C0019061 | hemolytic-uremic syndrome C0018926 | haematemesis C0018799 | cardiac disorders C0017181 | gastrointestinal hemorrhage C0013604 | oedema C0013292 | duodenal obstruction C0011860 | diabetes C0011849 | diabetes mellitus C0010346 | crohn's disease C0008370 | bile duct obstruction C0008350 | cholelithiasis C0006625 | cachexia C0005398 | extrahepatic biliary obstruction C0004364 | autoimmune disorders C0003950 | ascariasis C0003864 | arthritis C0002940 | aneurysms C0002940 | aneurysm C0000737 | abdominal pain |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:55) C0030193 | pain | 88 C0011847 | diabetes | 48 C0000737 | abdominal pain | 33 C0235974 | pancreatic cancer | 27 C0011849 | diabetes mellitus | 24 C0009450 | infection | 17 C0030299 | pancreatic pseudocyst | 17 C0022346 | jaundice | 16 C0022354 | obstructive jaundice | 12 C0000833 | abscess | 11 C0597984 | biliary stricture | 9 C0008350 | gallstones | 9 C0040053 | thrombosis | 8 C0020437 | hypercalcemia | 8 C0426768 | o sign | 7 C0016169 | fistula | 7 C0032227 | pleural effusion | 7 C0020538 | hypertension | 6 C0019080 | hemorrhage | 6 C0018944 | hematoma | 5 C0020541 | portal hypertension | 5 C1839611 | n syndrome | 5 C0008350 | cholelithiasis | 5 C0030200 | intractable pain | 5 C0009814 | stenosis | 4 C0238334 | pancreatic abscess | 4 C0021308 | infarction | 4 C0035309 | retinopathy | 3 C0010346 | crohn's disease | 3 C0267373 | intestinal bleeding | 3 C0020456 | hyperglycemia | 3 C0030326 | panniculitis | 2 C0267925 | bile duct stenosis | 2 C0267412 | mesenteric venous thrombosis | 2 C0030283 | pancreatic cyst | 2 C0011570 | depression | 2 C0020598 | hypocalcemia | 2 C0008370 | bile duct obstruction | 2 C0022116 | ischemia | 2 C1258215 | ileus | 2 C1405128 | pleural fistula | 2 C0013292 | duodenal obstruction | 1 C0002766 | analgesia | 1 C0006625 | cachexia | 1 C0002940 | aneurysm | 1 C0019243 | hereditary angioedema | 1 C0267466 | colonic stenosis | 1 C1393529 | vascular complications | 1 C0341365 | colonic fistula | 1 C0030920 | ulcer disease | 1 C0221773 | hyperamylasemia | 1 C0026780 | mumps | 1 C0035222 | acute respiratory distress syndrome | 1 C0003864 | arthritis | 1 C0155773 | portal vein thrombosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:42) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10273639 | 23143602 | 5644 | PRSS1 | umls:C0030305 | GWASCAT | Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. | 0.413567379 | 2012 | PRSS1 | 7 | 142749077 | T | C |
| rs111033564 | 14695529 | 5644 | PRSS1 | umls:C0030305 | BeFree | Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). | 0.413567379 | 2004 | PRSS1 | 7 | 142751808 | G | A |
| rs111033564 | 14695529 | 5645 | PRSS2 | umls:C0030305 | BeFree | Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). | 0.005905708 | 2004 | PRSS1 | 7 | 142751808 | G | A |
| rs111033565 | 20452997 | 5644 | PRSS1 | umls:C0030305 | BeFree | This problematic trend is notably illustrated by two recent studies that classified the p.A121T PRSS1 variant as pancreatitis associated, in large part owing to its intimate proximity to arginine-122, the residue affected by the disease causing p.R122H mutation. | 0.413567379 | 2010 | PRSS1 | 7 | 142751938 | G | A |
| rs111033565 | 17148697 | 5644 | PRSS1 | umls:C0030305 | BeFree | Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis. | 0.413567379 | 2006 | PRSS1 | 7 | 142751938 | G | A |
| rs111033565 | 23474566 | 5644 | PRSS1 | umls:C0030305 | BeFree | Low penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H mutation. | 0.413567379 | 2013 | PRSS1 | 7 | 142751938 | G | A |
| rs111033565 | 10909845 | 5644 | PRSS1 | umls:C0030305 | BeFree | The 'self-destruct' model proposed for the R122H mutation is discussed in connection with the existing theory of pancreatitis, and the basic biochemistry and physiology of trypsinogen, with particular reference to R122 as the primary autolysis site of the cationic trypsinogen. | 0.413567379 | 2000 | PRSS1 | 7 | 142751938 | G | A |
| rs111033566 | 21952138 | 5644 | PRSS1 | umls:C0030305 | BeFree | Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family. | 0.413567379 | 2011 | PRSS1 | 7 | 142750600 | A | C,T |
| rs111033566 | 17148697 | 5644 | PRSS1 | umls:C0030305 | BeFree | Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis. | 0.413567379 | 2006 | PRSS1 | 7 | 142750600 | A | C,T |
| rs111033567 | 17148697 | 5644 | PRSS1 | umls:C0030305 | BeFree | Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis. | 0.413567379 | 2006 | PRSS1 | 7 | 142750582 | A | G |
| rs11554495 | 16327287 | 5644 | PRSS1 | umls:C0030305 | BeFree | We found the heterozygous G62C mutation in n = 3/80 patients (n = 2/52 patients from different families, 3.8%) with familial pancreatitis without PRSS1 mutation and in n = 3/126 patients (2.4%) with sporadic pancreatitis. | 0.413567379 | 2006 | KRT8 | 12 | 52904798 | C | A |
| rs12688220 | 23143602 | 79710 | MORC4 | umls:C0030305 | GWASCAT | Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. | 0.12 | 2012 | MORC4 | X | 107001537 | C | T |
| rs139232307 | 14695529 | 5645 | PRSS2 | umls:C0030305 | BeFree | Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). | 0.005905708 | 2004 | PRSS2 | 7 | 142773300 | G | A |
| rs139232307 | 14695529 | 5644 | PRSS1 | umls:C0030305 | BeFree | Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). | 0.413567379 | 2004 | PRSS2 | 7 | 142773300 | G | A |
| rs144403091 | 11260229 | 5644 | PRSS1 | umls:C0030305 | BeFree | By analogy with the known PRSS1 mutations, predisposition to pancreatitis by some of them, particularly the V123M autolysis cleavage site mutation, is suspected. | 0.413567379 | 2001 | PRSS1 | 7 | 142751940 | G | A,T |
| rs17107315 | 18076731 | 5644 | PRSS1 | umls:C0030305 | BeFree | Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene (16%), while all 50 controls (pHPT without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (P < 0.05 vs controls, P < 0.001 vs general population). | 0.413567379 | 2008 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 18076731 | 6690 | SPINK1 | umls:C0030305 | BeFree | Pancreatitis risk in primary hyperparathyroidism: relation to mutations in the SPINK1 trypsin inhibitor (N34S) and the cystic fibrosis gene. | 0.238052025 | 2008 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 12483248 | 6690 | SPINK1 | umls:C0030305 | BeFree | Mechanisms other than the conformational change of PSTI associated with amino-acid substitution, such as abnormal splicing, may underlie the predisposition to pancreatitis in patients with the N34S mutation. | 0.238052025 | 2002 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 15753612 | 6690 | SPINK1 | umls:C0030305 | BeFree | We tested the hypothesis that the pancreatitis-associated N34S mutation of SPINK1 is also a risk factor for chronic parotitis. | 0.238052025 | 2004 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 17148697 | 5644 | PRSS1 | umls:C0030305 | BeFree | Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis. | 0.413567379 | 2006 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 21375584 | 6690 | SPINK1 | umls:C0030305 | BeFree | The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute flares of pancreatitis that might ultimately lead to pancreatic insufficiency. | 0.238052025 | 2011 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 15084977 | 6690 | SPINK1 | umls:C0030305 | BeFree | We report a case of pancreatic cancer associated with chronic calcifying pancreatitis in a patient with a homozygous N34S mutation in the SPINK1 gene. | 0.238052025 | 2004 | SPINK1 | 5 | 147828115 | T | C |
| rs1800076 | 20977904 | 1080 | CFTR | umls:C0030305 | BeFree | The CFTR variant p.R75Q causes a selective defect in bicarbonate conductance and increases risk of pancreatitis. | 0.22483508 | 2011 | CFTR | 7 | 117509093 | G | A,T |
| rs1800076 | 24451227 | 1080 | CFTR | umls:C0030305 | BeFree | Our study does not confirm that the CFTR p.Arg75Gln mutation confers a significant risk of pancreatitis both when considered individually and with a concurrent SPINK1 mutation, suggesting the role of other genetic and environmental factors. | 0.22483508 | 2013 | CFTR | 7 | 117509093 | G | A,T |
| rs1800076 | 24451227 | 6690 | SPINK1 | umls:C0030305 | BeFree | Our study does not confirm that the CFTR p.Arg75Gln mutation confers a significant risk of pancreatitis both when considered individually and with a concurrent SPINK1 mutation, suggesting the role of other genetic and environmental factors. | 0.238052025 | 2013 | CFTR | 7 | 117509093 | G | A,T |
| rs199422123 | 20452997 | 5644 | PRSS1 | umls:C0030305 | BeFree | This problematic trend is notably illustrated by two recent studies that classified the p.A121T PRSS1 variant as pancreatitis associated, in large part owing to its intimate proximity to arginine-122, the residue affected by the disease causing p.R122H mutation. | 0.413567379 | 2010 | PRSS1 | 7 | 142751934 | G | A,T |
| rs199769221 | 9788542 | 5644 | PRSS1 | umls:C0030305 | BeFree | Lack of R117H mutation in the cationic trypsinogen gene in patients with tropical pancreatitis from Bangladesh. | 0.413567379 | 1998 | PRSS1 | 7 | 142751920 | G | A,C,T |
| rs199769221 | 22572128 | 5644 | PRSS1 | umls:C0030305 | BeFree | We identified three deleterious genetic changes in the three major pancreatitis associated genes (PRSS1 CNV, SPINK1 c.27delC and CFTR R117H), two of which were carried by each patient. | 0.413567379 | 2012 | PRSS1 | 7 | 142751920 | G | A,C,T |
| rs199769221 | 9322498 | 5644 | PRSS1 | umls:C0030305 | BeFree | We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis (HP1), providing strong evidence that trypsin plays a central role in premature zymogen activation and pancreatitis. | 0.413567379 | 1997 | PRSS1 | 7 | 142751920 | G | A,C,T |
| rs202003805 | 19951905 | 5644 | PRSS1 | umls:C0030305 | BeFree | The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families. | 0.413567379 | 2010 | PRSS1 | 7 | 142750561 | C | T |
| rs202003805 | 17148697 | 5644 | PRSS1 | umls:C0030305 | BeFree | Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis. | 0.413567379 | 2006 | PRSS1 | 7 | 142750561 | C | T |
| rs267606982 | 23474566 | 5644 | PRSS1 | umls:C0030305 | BeFree | Low penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H mutation. | 0.413567379 | 2013 | NA | NA | NA | NA | NA |
| rs267606982 | 17148697 | 5644 | PRSS1 | umls:C0030305 | BeFree | Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis. | 0.413567379 | 2006 | NA | NA | NA | NA | NA |
| rs267606982 | 20452997 | 5644 | PRSS1 | umls:C0030305 | BeFree | This problematic trend is notably illustrated by two recent studies that classified the p.A121T PRSS1 variant as pancreatitis associated, in large part owing to its intimate proximity to arginine-122, the residue affected by the disease causing p.R122H mutation. | 0.413567379 | 2010 | NA | NA | NA | NA | NA |
| rs267606982 | 10909845 | 5644 | PRSS1 | umls:C0030305 | BeFree | The 'self-destruct' model proposed for the R122H mutation is discussed in connection with the existing theory of pancreatitis, and the basic biochemistry and physiology of trypsinogen, with particular reference to R122 as the primary autolysis site of the cationic trypsinogen. | 0.413567379 | 2000 | NA | NA | NA | NA | NA |
| rs2995271 | 23143602 | 101929279 | LOC101929279 | umls:C0030305 | GWASCAT | Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. | 0.12 | 2012 | LOC101929279 | 10 | 30230903 | C | T |
| rs3775291 | 25423559 | 7098 | TLR3 | umls:C0030305 | BeFree | Regarding severity, CC genotype patients in TLR3 rs3775291 had an increased risk for severe pancreatitis (CC odds ratio [OR], 2.426; P = 0.015). | 0.080271442 | 2015 | TLR3 | 4 | 186082920 | C | T,G |
| rs387906698 | 11708864 | 5644 | PRSS1 | umls:C0030305 | BeFree | Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1). | 0.413567379 | 2001 | PRSS1 | 7 | 142751919 | C | T |
| rs387906698 | 15786540 | 5644 | PRSS1 | umls:C0030305 | BeFree | Autosomal dominant pancreatitis with increased cancer risk in the studied Thai family is most likely due to missense (R116C) mutation in the PRSS1 gene. | 0.413567379 | 2005 | PRSS1 | 7 | 142751919 | C | T |
| rs397507442 | 17148697 | 5644 | PRSS1 | umls:C0030305 | BeFree | Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis. | 0.413567379 | 2006 | PRSS1 | 7 | 142750579 | A | G |
| rs5275 | 19820421 | 5743 | PTGS2 | umls:C0030305 | BeFree | Except for rs5275, the frequencies of COX-2 polymorphisms were both similar in patients with mild or severe pancreatitis, so were in pancreatitis patients and in controls. | 0.120271442 | 2010 | PTGS2 | 1 | 186673926 | A | G |
| rs72558408 | 11148526 | 5009 | OTC | umls:C0030305 | BeFree | We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate. | 0.000271442 | 2001 | OTC | X | 38403681 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:11) | |||||||||||||||||||||||||||||
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| 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 |
| 7 | 142456928 | rs10273639 | T | C | rs10273639 | 23143602 | 2.00E-14 | NA | 1.36 | [1.30-1.42] | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | rs10273639-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 8 | 119766194 | rs11988997 | C | T | rs11988997 | 23143602 | 6.00E-06 | NA | 1.36 | [1.21-1.50] | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | rs11988997-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 30519832 | rs2995271 | C | T | rs2995271 | 23143602 | 8.00E-07 | NA | 1.27 | [1.20-1.34] | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | rs2995271-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| X | 105493919 | rs379742 | G | A | rs379742 | 23143602 | 6.00E-07 | NA | 1.2 | [1.10-1.30] | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | rs379742-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| X | 106140325 | rs4409525 | G | A | rs4409525 | 23143602 | 4.50E-16 | NA | NA | NA | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| X | 106144529 | rs7057398 | T | C | rs7057398 | 23143602 | 4.60E-17 | NA | NA | NA | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| X | 106160702 | rs12008279 | A | G | rs12008279 | 23143602 | 1.60E-09 | NA | NA | NA | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| X | 106162634 | rs5917027 | C | T | rs5917027 | 23143602 | 9.70E-11 | NA | NA | NA | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| X | 106183670 | rs12014762 | C | T | rs12014762 | 23143602 | 1.50E-14 | NA | NA | NA | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| X | 106200202 | rs6622126 | G | A | rs6622126 | 23143602 | 1.90E-10 | NA | NA | NA | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| X | 106244767 | rs12688220 | C | T | rs12688220 | 23143602 | 2.00E-22 | NA | 1.39 | [1.28-1.49] | 676 European ancestry cases; 4,507 European ancestry controls | European(5183) | ALL(5183) | EUR(5183) | ALL(5183) | Pancreatitis | HPOID:0001733 | Pancreatitis | DOID:4989 | pancreatitis | D010195 | Pancreatitis | EFOID:0000278 | pancreatitis | Pancreatitis | rs12688220-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 591 |
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| Disease | pancreatitis |
| Case | (Waiting for update.) |