eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cholangitis, primary sclerosing | ||||
| Disease ID | 1651 |
|---|---|
| Disease | cholangitis, primary sclerosing |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:19) C0206698 | cholangiocarcinoma | 14 C0021390 | inflammatory bowel disease | 13 C0009319 | colitis | 13 C0009324 | ulcerative colitis | 12 C0023895 | liver disease | 6 C0009402 | colorectal cancer | 4 C0019204 | hepatocellular carcinoma | 3 C0410000 | overlap syndrome | 3 C0241910 | autoimmune hepatitis | 2 C0586737 | bladder polyps | 2 C0597984 | biliary stricture | 2 C0740476 | biliary carcinoma | 1 C2609129 | autoimmune pancreatitis | 1 C0005940 | bone disease | 1 C0085605 | liver failure | 1 C0015672 | fatigue | 1 C0275553 | bacterial cholangitis | 1 C0042345 | varices | 1 C0033774 | pruritus | 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: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.) |
| Disease ID | 1651 |
|---|---|
| Disease | cholangitis, primary sclerosing |
| Case | (Waiting for update.) |