eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acute pancreatitis | ||||
| Disease ID | 1272 |
|---|---|
| Disease | acute pancreatitis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:204) C2717961 | thrombotic microangiopathy C2707258 | infections C2698709 | pancreatic infection C2632116 | stenosis C2598155 | pain C2364133 | infection C2364050 | hypothermia C2362319 | acute respiratory distress syndrome (ards) C2242710 | intra-abdominal hypertension C2242494 | hemorrhagic erosive gastritis C2203646 | jaundice C2073625 | pleural effusion C2046121 | aortic dissection C1963185 | obesity C1963154 | renal failure C1963138 | hypertension C1962972 | proteinuria C1962966 | retinopathy C1962958 | hematoma C1839611 | n syndrome C1699138 | duodenal necrosis C1692886 | septic arthritis C1660219 | analgesia C1611280 | allergy C1609502 | portal venous gas C1565489 | renal insufficiency C1565489 | kidney insufficiency C1551380 | defibrination C1550639 | fistula C1546533 | abscess C1533618 | fat embolism C1442984 | choledochal cyst C1408515 | omentitis C1393529 | vascular complications C1389183 | autodigestion C1336001 | lipoma of the small intestine C1335309 | mucinous cystadenoma of the pancreas C1328465 | enteroparesis C1299916 | endotoxicosis C1263960 | diabetic coma C1253937 | pericardial effusion C1145670 | respiratory failure C1142110 | abdominal compartment syndrome C1096352 | pancreatic enlargement C1090821 | sepsis C0948755 | pulmonary failure C0948600 | organ failure C0948160 | pancreas infection C0947622 | gallstones C0947622 | gallstone C0919747 | cytokine storm C0865850 | acute respiratory insufficiency C0856169 | endothelial dysfunction C0853030 | macroamylasemia C0796095 | c syndrome C0749224 | systemic inflammatory process C0728936 | circulatory disorders C0701818 | choledocholithiasis C0585110 | haemorrhagic pleural effusion C0574786 | acute renal failure with renal papillary necrosis C0554112 | colonic infarction C0549289 | ivc thrombosis C0543698 | hypersensitivity syndrome C0542241 | toxemia C0496953 | retroperitoneum C0456909 | blindness C0442886 | secondary infection C0424755 | fever C0422833 | ent symptoms C0401040 | retroperitoneal fat necrosis C0401020 | peritoneal collection C0400979 | biliary obstruction C0398795 | secondary immunodeficiency C0398623 | hypercoagulability C0392519 | calcium deficiency C0341751 | bladder necrosis C0341426 | small intestinal infarction C0341266 | duodenal diverticula C0340704 | superior mesenteric vein thrombosis C0333027 | microlithiasis C0282201 | hyperphosphaturia C0278140 | severe pain C0277788 | pathognomonic symptom C0272416 | splenic vein thrombosis C0271650 | glucose intolerance C0267955 | sterile pancreatic necrosis C0267954 | peripancreatic necrosis C0267953 | pancreatic necrosis C0267466 | colonic stricture C0267466 | colonic stenosis C0267466 | colon stenosis C0267396 | ischemic enterocolitis C0267373 | intestinal bleeding C0265050 | vena cava thrombosis C0264490 | acute respiratory failure C0243050 | cardiovascular abnormality C0242966 | systemic inflammatory response syndrome (sirs) C0238334 | pancreatic abscess C0235896 | pulmonary infiltrates C0235884 | gastric perforation C0235430 | ketonemia C0235328 | colonic obstruction C0234254 | radiating pain C0233205 | halo sign C0233200 | cullen's sign C0232492 | upper abdominal pain C0232197 | fibrillation C0231243 | early complication C0221773 | hyperamylasaemia C0206754 | neuroendocrine tumors C0206754 | neuroendocrine tumor C0205721 | nosocomial infection C0162871 | abdominal aortic aneurysm C0162429 | malnutrition C0155773 | portal vein thrombosis C0154251 | lipid metabolism disorders C0154251 | disorders of lipid metabolism C0151859 | polyserositis C0151659 | intestinal gangrene C0149670 | disorders of carbohydrate metabolism C0085762 | ethanol abuse C0085605 | liver failure C0085293 | hepatitis e C0085222 | psoas abscess C0040188 | tic disorders C0040053 | thrombosis C0040034 | thrombocytopenia C0039621 | tetany C0037998 | splenic infarction C0036690 | septicemia C0035400 | reye's syndrome C0035229 | respiratory insufficiency C0035222 | shock lung C0035222 | adult respiratory distress syndrome C0035078 | kidney failure C0034194 | pyloric stenosis C0034155 | thrombotic thrombocytopenic purpura C0034088 | pulmonary insufficiency C0034063 | pulmonary edema C0033975 | psychosis C0033975 | psychoses C0032285 | pneumoniae C0032285 | lung inflammation C0032227 | pleural effusions C0031154 | peritonitis C0031039 | pericardial effusions C0030326 | panniculitis C0030299 | pancreatic pseudocysts C0030299 | pancreatic pseudocyst C0030283 | pancreatic cyst C0028709 | nutritional problems C0025637 | methemoglobinemia C0025517 | metabolic disorders C0023493 | adult t-cell leukemia C0022667 | renal papillary necrosis C0022660 | acute renal failure C0022660 | acute kidney failure C0022354 | obstructive jaundice C0022116 | ischemia C0022116 | ischaemia C0021843 | intestinal obstruction C0021308 | infarction C0021053 | immune dysfunction C0021053 | immune disorders C0020640 | hypoprothrombinemia C0020598 | hypocalcemia C0020476 | hyperlipoproteinemia C0020473 | hyperlipidemia C0020473 | hyperlipidaemia C0020473 | hyperlipemia C0020456 | hyperglycemia C0020295 | hydronephrosis C0019212 | hepato-renal syndrome C0019080 | hemorrhage C0017178 | gastrointestinal disorder C0016382 | facial flushing C0014378 | enterovirus infections C0013720 | ehlers-danlos syndrome C0013604 | oedema C0013292 | duodenal obstruction C0012739 | disseminated intravascular coagulation C0011854 | juvenile diabetes mellitus C0011849 | diabetes mellitus C0010823 | cytomegalovirus infection C0010246 | coxsackievirus infection C0009324 | ulcerative colitis C0008732 | chylous ascites C0008370 | bile duct obstruction C0008350 | cholelithiasis C0007177 | cardiac tamponade C0007134 | renal cell carcinoma C0006840 | candida infection C0005779 | clotting disorders C0005779 | blood coagulation disorders C0005750 | stasis syndrome C0005424 | biliary tract disease C0005403 | bile reflux C0004936 | mental disorders C0004623 | bacterial infection C0004610 | bacteremia C0003950 | ascariasis C0001727 | afferent loop syndrome C0000737 | abdominal pain C0000727 | acute abdomen |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:73) C0948600 | organ failure | 21 C0030193 | pain | 18 C0267953 | pancreatic necrosis | 15 C0009450 | infection | 14 C0000737 | abdominal pain | 8 C2242710 | intra-abdominal hypertension | 8 C0020538 | hypertension | 8 C1142110 | abdominal compartment syndrome | 7 C0035309 | retinopathy | 6 C0040053 | thrombosis | 6 C0011849 | diabetes mellitus | 6 C0021308 | infarction | 6 C0015967 | fever | 6 C0008350 | gallstones | 6 C0018944 | hematoma | 5 C0030299 | pancreatic pseudocyst | 5 C0035078 | renal failure | 4 C0028754 | obesity | 4 C0021311 | infections | 4 C0000833 | abscess | 3 C0016169 | fistula | 3 C2698709 | pancreatic infection | 3 C1839611 | n syndrome | 3 C0022660 | acute renal failure | 2 C0031154 | peritonitis | 2 C0032227 | pleural effusion | 2 C0020473 | hyperlipidemia | 2 C0267373 | intestinal bleeding | 2 C0009324 | ulcerative colitis | 2 C0007177 | cardiac tamponade | 2 C0206754 | neuroendocrine tumor | 2 C0036690 | sepsis | 2 C0004610 | bacteremia | 2 C0030326 | panniculitis | 2 C0242966 | systemic inflammatory response syndrome (sirs) | 2 C0155773 | portal vein thrombosis | 2 C0238334 | pancreatic abscess | 2 C0004623 | bacterial infection | 1 C0267396 | ischemic enterocolitis | 1 C0008350 | cholelithiasis | 1 C1393529 | vascular complications | 1 C0008732 | chylous ascites | 1 C0022116 | ischemia | 1 C0701818 | choledocholithiasis | 1 C0340704 | superior mesenteric vein thrombosis | 1 C0022116 | ischaemia | 1 C0003950 | ascariasis | 1 C0013292 | duodenal obstruction | 1 C0031039 | pericardial effusion | 1 C0008340 | choledochal cyst | 1 C0037998 | splenic infarction | 1 C0020295 | hydronephrosis | 1 C0020473 | hyperlipidaemia | 1 C0019080 | hemorrhage | 1 C0008350 | gallstone | 1 C0022346 | jaundice | 1 C0008370 | bile duct obstruction | 1 C0020672 | hypothermia | 1 C0021053 | immune dysfunction | 1 C1565489 | renal insufficiency | 1 C2717961 | thrombotic microangiopathy | 1 C0021843 | intestinal obstruction | 1 C0035229 | respiratory insufficiency | 1 C0023493 | adult t-cell leukemia | 1 C0333027 | microlithiasis | 1 C0340643 | aortic dissection | 1 C0020476 | hyperlipoproteinemia | 1 C0442886 | secondary infection | 1 C0032285 | pneumoniae | 1 C0085293 | hepatitis e | 1 C0543698 | hypersensitivity syndrome | 1 C0002111 | allergy | 1 C1145670 | respiratory failure | 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:39) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs111033565 | 21303407 | 6347 | CCL2 | umls:C0001339 | BeFree | A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. | 0.004267125 | 2011 | PRSS1 | 7 | 142751938 | G | A |
| rs111033565 | 21303407 | 6690 | SPINK1 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.006981544 | 2011 | PRSS1 | 7 | 142751938 | G | A |
| rs111033565 | 22699143 | 5644 | PRSS1 | umls:C0001339 | BeFree | The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients. | 0.002171535 | 2012 | PRSS1 | 7 | 142751938 | G | A |
| rs111033565 | 21303407 | 5644 | PRSS1 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.002171535 | 2011 | PRSS1 | 7 | 142751938 | G | A |
| rs111033565 | 21303407 | 5646 | PRSS3 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.000271442 | 2011 | PRSS1 | 7 | 142751938 | G | A |
| rs111033565 | 21303407 | 5645 | PRSS2 | umls:C0001339 | BeFree | A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. | 0.000271442 | 2011 | PRSS1 | 7 | 142751938 | G | A |
| rs111033566 | 22699143 | 5644 | PRSS1 | umls:C0001339 | BeFree | The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients. | 0.002171535 | 2012 | PRSS1 | 7 | 142750600 | A | C,T |
| rs139635080 | 21303407 | 5645 | PRSS2 | umls:C0001339 | BeFree | A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. | 0.000271442 | 2011 | PRSS3 | 9 | 33798602 | G | A |
| rs139635080 | 21303407 | 6347 | CCL2 | umls:C0001339 | BeFree | A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. | 0.004267125 | 2011 | PRSS3 | 9 | 33798602 | G | A |
| rs145657341 | 24646025 | 4023 | LPL | umls:C0001339 | BeFree | The data from this study showed that compound heterozygote mutations of A98T and L279V inactivate lipoprotein lipase enzymatic activity and contribute to severe HTG and acute pancreatitis in two Chinese patients. | 0.001085767 | 2014 | LPL | 8 | 19951811 | G | A |
| rs146966861 | 21303407 | 5646 | PRSS3 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.000271442 | 2011 | PRSS3 | 9 | 33797993 | G | A |
| rs146966861 | 21303407 | 6347 | CCL2 | umls:C0001339 | BeFree | A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. | 0.004267125 | 2011 | PRSS3 | 9 | 33797993 | G | A |
| rs146966861 | 21303407 | 6690 | SPINK1 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.006981544 | 2011 | PRSS3 | 9 | 33797993 | G | A |
| rs146966861 | 21303407 | 5645 | PRSS2 | umls:C0001339 | BeFree | A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. | 0.000271442 | 2011 | PRSS3 | 9 | 33797993 | G | A |
| rs146966861 | 21303407 | 5644 | PRSS1 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.002171535 | 2011 | PRSS3 | 9 | 33797993 | G | A |
| rs17107315 | 21303407 | 6690 | SPINK1 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.006981544 | 2011 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 26100556 | 6690 | SPINK1 | umls:C0001339 | BeFree | Mutation p.N34S in SPINK1 may predispose patients to acute pancreatitis, especially in those abusing alcohol, and may promote a more severe course of the disease. | 0.006981544 | 2015 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 24844923 | 6690 | SPINK1 | umls:C0001339 | BeFree | The p.N34S mutation in SPINK1 gene was found more frequently in patients with AP in the Indian population, irrespective of disease etiology and whether the disease was recurrent or not, and was associated with disease onset at an earlier age. | 0.006981544 | 2015 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 21303407 | 5645 | PRSS2 | umls:C0001339 | BeFree | A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. | 0.000271442 | 2011 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 22228370 | 6690 | SPINK1 | umls:C0001339 | BeFree | Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis? | 0.006981544 | 2012 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 21303407 | 6347 | CCL2 | umls:C0001339 | BeFree | A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. | 0.004267125 | 2011 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 21303407 | 5646 | PRSS3 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.000271442 | 2011 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 22699143 | 5644 | PRSS1 | umls:C0001339 | BeFree | The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients. | 0.002171535 | 2012 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 18617776 | 6690 | SPINK1 | umls:C0001339 | BeFree | The SPINK1 N34S variant is associated with acute pancreatitis. | 0.006981544 | 2008 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 22699143 | 6690 | SPINK1 | umls:C0001339 | BeFree | Patients bearing the N34S G allele exhibited a 10-fold increased risk of developing AP compared with controls, suggesting that the SPINK1 N34S mutation represents an etiologic risk factor for AP in our Mexican pediatric patients. | 0.006981544 | 2012 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 19888199 | 6690 | SPINK1 | umls:C0001339 | BeFree | SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event. | 0.006981544 | 2010 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 21303407 | 5644 | PRSS1 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.002171535 | 2011 | SPINK1 | 5 | 147828115 | T | C |
| rs2569190 | 15599151 | 929 | CD14 | umls:C0001339 | BeFree | Soluble CD14 receptor expression and monocyte heterogeneity but not the C-260T CD14 genotype are associated with severe acute pancreatitis. | 0.006091273 | 2004 | CD14;TMCO6 | 5 | 140633331 | A | G |
| rs267606982 | 21303407 | 5645 | PRSS2 | umls:C0001339 | BeFree | A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. | 0.000271442 | 2011 | NA | NA | NA | NA | NA |
| rs267606982 | 21303407 | 5644 | PRSS1 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.002171535 | 2011 | NA | NA | NA | NA | NA |
| rs267606982 | 21303407 | 6347 | CCL2 | umls:C0001339 | BeFree | A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. | 0.004267125 | 2011 | NA | NA | NA | NA | NA |
| rs267606982 | 22699143 | 5644 | PRSS1 | umls:C0001339 | BeFree | The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients. | 0.002171535 | 2012 | NA | NA | NA | NA | NA |
| rs267606982 | 21303407 | 5646 | PRSS3 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.000271442 | 2011 | NA | NA | NA | NA | NA |
| rs267606982 | 21303407 | 6690 | SPINK1 | umls:C0001339 | BeFree | The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. | 0.006981544 | 2011 | NA | NA | NA | NA | NA |
| rs371282890 | 24646025 | 4023 | LPL | umls:C0001339 | BeFree | The data from this study showed that compound heterozygote mutations of A98T and L279V inactivate lipoprotein lipase enzymatic activity and contribute to severe HTG and acute pancreatitis in two Chinese patients. | 0.001085767 | 2014 | LPL | 8 | 19955900 | C | G |
| rs386599687 | 19997857 | 929 | CD14 | umls:C0001339 | BeFree | -651C/T promoter polymorphism in the CD14 gene is associated with severity of acute pancreatitis in Japan. | 0.006091273 | 2010 | NA | NA | NA | NA | NA |
| rs4986790 | 17414051 | 7099 | TLR4 | umls:C0001339 | BeFree | Toll-like receptor 4 Asp299Gly polymorphism is associated with an increased risk of pancreatic necrotic infection in acute pancreatitis: a study in the Chinese population. | 0.004267125 | 2007 | TLR4 | 9 | 117713024 | A | G |
| rs5275 | 19820421 | 5729 | PTGDR | umls:C0001339 | BeFree | These findings suggest that the rs5275 polymorphism in the 3'-untranslated region of the COX-2 gene may be used as 1 marker for defining the risk of AP. | 0.000271442 | 2010 | PTGS2 | 1 | 186673926 | A | G |
| rs5744455 | 19997857 | 929 | CD14 | umls:C0001339 | BeFree | -651C/T promoter polymorphism in the CD14 gene is associated with severity of acute pancreatitis in Japan. | 0.006091273 | 2010 | CD14;TMCO6 | 5 | 140633722 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
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 | 1272 |
|---|---|
| Disease | acute pancreatitis |
| Case | (Waiting for update.) |