PedAM
Pediatric Disease Annotations & Medicines
| primary sclerosing cholangitis | ||||
| Disease ID | 803 |
|---|---|
| Disease | primary sclerosing cholangitis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:55) HP:0001635 | Congestive heart failure HP:0001298 | Encephalopathy HP:0001824 | Weight loss HP:0001394 | Cirrhosis HP:0010638 | Elevated alkaline phosphatase of hepatic origin HP:0000952 | Jaundice HP:0001396 | Cholestasis HP:0002202 | Pleural effusion HP:0001879 | Abnormality of eosinophils HP:0030168 | Dilated superficial abdominal veins HP:0011034 | Amyloidosis HP:0005429 | Recurrent systemic pyogenic infections HP:0002960 | Autoimmunity HP:0001402 | Hepatocellular carcinoma HP:0001945 | Fever HP:0100279 | Ulcerative colitis HP:0100646 | Thyroiditis HP:0012522 | Spider hemangioma HP:0003073 | Hypoalbuminemia HP:0100512 | Vitamin D deficiency HP:0001744 | Splenomegaly HP:0003700 | Generalized amyotrophy HP:0002608 | Celiac disease HP:0011892 | Vitamin K deficiency HP:0030153 | Cholangiocarcinoma HP:0000083 | Renal insufficiency HP:0001395 | Hepatic fibrosis HP:0002240 | Hepatomegaly HP:0008151 | Prolonged prothrombin time HP:0002910 | Elevated hepatic transaminases HP:0000939 | Osteoporosis HP:0001081 | Cholelithiasis HP:0000716 | Depression HP:0000989 | Pruritus HP:0001433 | Hepatosplenomegaly HP:0012378 | Fatigue HP:0100651 | Type I diabetes mellitus HP:0012700 | Abnormal large intestine physiology HP:0000938 | Osteopenia HP:0001733 | Pancreatitis HP:0003459 | Polyclonal elevation of IgM HP:0004905 | Vitamin A deficiency HP:0001541 | Ascites HP:0040275 | Adenocarcinoma of the large intestine HP:0000554 | Uveitis HP:0100575 | Neoplasm of the gallbladder HP:0012115 | Hepatitis HP:0100626 | Chronic hepatic failure HP:0006554 | Acute hepatic failure HP:0001409 | Portal hypertension HP:0012440 | Abnormal biliary tract morphology HP:0100869 | Palmar telangiectasia HP:0002027 | Abdominal pain HP:0100513 | Vitamin E deficiency HP:0100727 | Histiocytosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:30) HP:0030153 | Cholangiocarcinoma | 14 HP:0002583 | Colitis | 14 HP:0100279 | Ulcerative colitis | 13 HP:0100280 | Morbus Crohn | 6 HP:0002664 | Neoplasia | 4 HP:0001733 | Pancreatic inflammation | 3 HP:0030731 | Carcinoma | 3 HP:0001402 | Hepatocellular carcinoma | 3 HP:0012115 | Liver inflammation | 2 HP:0030151 | Cholangitis | 2 HP:0001397 | Hepatic steatosis | 1 HP:0003453 | Antineutrophil antibodies | 1 HP:0010702 | Hypergammaglobulinaemia | 1 HP:0012280 | Hepatic amyloidosis | 1 HP:0001082 | Cholecystitis | 1 HP:0011034 | Amyloid disease | 1 HP:0100626 | Chronic hepatic failure | 1 HP:0000716 | Depression | 1 HP:0001696 | Situs inversus totalis | 1 HP:0012378 | Fatigue | 1 HP:0003473 | Fatigable weakness | 1 HP:0003003 | Colon cancer | 1 HP:0002608 | Celiac disease | 1 HP:0006280 | Chronic pancreas inflammation | 1 HP:0002251 | Hirschsprung megacolon | 1 HP:0002611 | Cholestatic liver disease | 1 HP:0000989 | pruritis | 1 HP:0001890 | Autoimmune hemolytic anemia | 1 HP:0012028 | Hepatocellular adenoma | 1 HP:0001399 | Liver failure | 1 |
| Disease ID | 803 |
|---|---|
| Disease | primary sclerosing cholangitis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:20) C0009319 | colitis | 14 C0206698 | cholangiocarcinoma | 14 C0021390 | inflammatory bowel disease | 13 C0009324 | ulcerative colitis | 13 C0023895 | liver disease | 6 C0410000 | overlap syndrome | 4 C0009402 | colorectal cancer | 4 C0019204 | hepatocellular carcinoma | 3 C0586737 | bladder polyps | 2 C0241910 | autoimmune hepatitis | 2 C0597984 | biliary stricture | 2 C0275553 | bacterial cholangitis | 1 C0085605 | liver failure | 1 C0015672 | fatigue | 1 C0740476 | biliary carcinoma | 1 C0005940 | bone disease | 1 C0042345 | varices | 1 C0206698 | cholangiocarcinomas | 1 C2609129 | autoimmune pancreatitis | 1 C0033774 | pruritus | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs3197999 | 22237417 | 4485 | MST1 | umls:C0566602 | BeFree | Therefore, the gain of function observed with rs3197999 in MST1 might provide a cellular mechanism for the consistent association of this polymorphism with an increased risk for IBD and PSC. | 0.240814326 | 2012 | MST1 | 3 | 49684099 | G | A |
| rs3197999 | 23422030 | 4486 | MST1R | umls:C0566602 | BeFree | Here, we assessed the primary sclerosing cholangitis-associated variant rs3197999 in the MST1 gene, coding for RON receptor tyrosine kinase ligand macrophage stimulating protein, in a large European cholangiocarcinoma cohort. | 0.000271442 | 2012 | MST1 | 3 | 49684099 | G | A |
| rs3197999 | 23422030 | 4485 | MST1 | umls:C0566602 | BeFree | These results suggest that the [AA] genotype of the common MST1 variant rs3197999 enhances genetic risk of sporadic extrahepatic cholangiocarcinoma irrespective of primary sclerosing cholangitis status, presumably by modulating inflammatory responses and/or altered MSP/RON signalling. | 0.240814326 | 2012 | MST1 | 3 | 49684099 | G | A |
| rs3197999 | 21151127 | 4485 | MST1 | umls:C0566602 | GWASCAT | Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. | 0.240814326 | 2011 | MST1 | 3 | 49684099 | 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.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |