eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cholangiocarcinoma | ||||
| Disease ID | 64 |
|---|---|
| Disease | cholangiocarcinoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:29) C2364133 | infection C1421374 | porphyria cutanea tarda C1112565 | pneumatosis intestinalis C0860204 | cholestatic liver disease C0850639 | premalignant lesion C0849867 | extensive disease C0520463 | chronic active hepatitis C0406347 | disseminated superficial porokeratosis C0400979 | biliary obstruction C0398623 | hypercoagulable state C0398359 | trousseau's syndrome C0344043 | biliary ascariasis C0267928 | choledochoduodenal fistula C0267768 | bile peritonitis C0265029 | portal vein occlusion C0162651 | gastric outlet obstruction C0162510 | caroli's disease C0153687 | cutaneous metastasis C0043119 | werner's syndrome C0031036 | polyarteritis nodosa C0029896 | ent disease C0022661 | chronic renal failure C0022354 | obstructive jaundice C0020437 | hypercalcemia C0018994 | hemobilia C0013292 | duodenal obstruction C0008312 | primary biliary cirrhosis C0007780 | cerebral embolism C0006666 | calciphylaxis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0009450 | infection | 9 C0022354 | obstructive jaundice | 7 C0400979 | biliary obstruction | 3 C0344043 | biliary ascariasis | 2 C0020437 | hypercalcemia | 1 C0153452 | gallbladder cancer | 1 C0018994 | hemobilia | 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:12) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104886003 | 18181165 | 5290 | PIK3CA | umls:C0206698 | BeFree | PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). | 0.001085767 | 2008 | PIK3CA | 3 | 179218303 | G | A |
| rs121913273 | 18181165 | 5290 | PIK3CA | umls:C0206698 | BeFree | PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). | 0.001085767 | 2008 | PIK3CA | 3 | 179218294 | G | A |
| rs121913279 | 18181165 | 5290 | PIK3CA | umls:C0206698 | BeFree | PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). | 0.001085767 | 2008 | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913529 | 20381452 | 4609 | MYC | umls:C0206698 | BeFree | Whereas the introduction of defined factors of iPC cells once induced an immature state and sensitized cells to therapeutic reagents, the endogenous expression of the ES-like genes except for activated endogenous c-MYC was down-regulated in a long-term culture, suggesting a high magnitude of the reprogramming induction by defined factors and the requirement of therapeutic maintenance in Lc-iPC cells from cholangiocellular carcinoma HuCC-T1 cells, which harbor TP53(R175H) and KRAS(G12D). | 0.002995792 | 2010 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 20381452 | 3845 | KRAS | umls:C0206698 | BeFree | Whereas the introduction of defined factors of iPC cells once induced an immature state and sensitized cells to therapeutic reagents, the endogenous expression of the ES-like genes except for activated endogenous c-MYC was down-regulated in a long-term culture, suggesting a high magnitude of the reprogramming induction by defined factors and the requirement of therapeutic maintenance in Lc-iPC cells from cholangiocellular carcinoma HuCC-T1 cells, which harbor TP53(R175H) and KRAS(G12D). | 0.126710102 | 2010 | KRAS | 12 | 25245350 | C | T,G,A |
| rs1799782 | 24049014 | 7515 | XRCC1 | umls:C0206698 | BeFree | We genotyped five non-synonymous single-nucleotide polymorphisms of three genes, including the human homolog of the 8-oxoguanine glycosylase 1 Ser326Cys, X-ray repair cross-complementing protein 1 Arg194Trp, Arg280His and Arg399Gln and poly (adenosine diphosphate ribose) polymerase 1 Val762Ala in 87-94 matched case-control pairs, and examined relations between those polymorphisms and the risk of cholangiocarcinoma. | 0.000542884 | 2014 | XRCC1 | 19 | 43553422 | G | A |
| rs25487 | 24049014 | 7515 | XRCC1 | umls:C0206698 | BeFree | We genotyped five non-synonymous single-nucleotide polymorphisms of three genes, including the human homolog of the 8-oxoguanine glycosylase 1 Ser326Cys, X-ray repair cross-complementing protein 1 Arg194Trp, Arg280His and Arg399Gln and poly (adenosine diphosphate ribose) polymerase 1 Val762Ala in 87-94 matched case-control pairs, and examined relations between those polymorphisms and the risk of cholangiocarcinoma. | 0.000542884 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25489 | 24049014 | 7515 | XRCC1 | umls:C0206698 | BeFree | We genotyped five non-synonymous single-nucleotide polymorphisms of three genes, including the human homolog of the 8-oxoguanine glycosylase 1 Ser326Cys, X-ray repair cross-complementing protein 1 Arg194Trp, Arg280His and Arg399Gln and poly (adenosine diphosphate ribose) polymerase 1 Val762Ala in 87-94 matched case-control pairs, and examined relations between those polymorphisms and the risk of cholangiocarcinoma. | 0.000542884 | 2014 | XRCC1 | 19 | 43552260 | C | T,G |
| rs3219472 | 23138270 | 4595 | MUTYH | umls:C0206698 | BeFree | MYH rs3219476 and rs3219472 polymorphisms and risk of cholangiocarcinoma. | 0.000542884 | 2012 | MUTYH;TOE1 | 1 | 45338378 | C | T |
| rs3219476 | 23138270 | 4595 | MUTYH | umls:C0206698 | BeFree | MYH rs3219476 and rs3219472 polymorphisms and risk of cholangiocarcinoma. | 0.000542884 | 2012 | MUTYH | 1 | 45336998 | A | C |
| rs386493716 | 24049014 | 7515 | XRCC1 | umls:C0206698 | BeFree | We genotyped five non-synonymous single-nucleotide polymorphisms of three genes, including the human homolog of the 8-oxoguanine glycosylase 1 Ser326Cys, X-ray repair cross-complementing protein 1 Arg194Trp, Arg280His and Arg399Gln and poly (adenosine diphosphate ribose) polymerase 1 Val762Ala in 87-94 matched case-control pairs, and examined relations between those polymorphisms and the risk of cholangiocarcinoma. | 0.000542884 | 2014 | NA | NA | NA | NA | NA |
| rs386545546 | 24049014 | 7515 | XRCC1 | umls:C0206698 | BeFree | We genotyped five non-synonymous single-nucleotide polymorphisms of three genes, including the human homolog of the 8-oxoguanine glycosylase 1 Ser326Cys, X-ray repair cross-complementing protein 1 Arg194Trp, Arg280His and Arg399Gln and poly (adenosine diphosphate ribose) polymerase 1 Val762Ala in 87-94 matched case-control pairs, and examined relations between those polymorphisms and the risk of cholangiocarcinoma. | 0.000542884 | 2014 | NA | NA | NA | NA | NA |
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:8) | ||||
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| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011985 | Acholic stools | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100574 | Biliary tract neoplasm | MP:0014083 | blunted small intestinal villi | abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal d |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 64 |
|---|---|
| Disease | cholangiocarcinoma |
| Case | (Waiting for update.) |