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	intrahepatic cholangiocarcinoma

Disease ID	1705
Disease	intrahepatic cholangiocarcinoma
Definition	A carcinoma that originates in the intrahepatic bile duct epithelium of the intrahepatic biliary tree. Malignant lesions are solid, nodular, and grayish. Most cases are adenocarcinomas. Somatic mutations in BAP1, ARID1A, PBRM1, IDH1, and IDH2 genes have been identified. OMIM: 615619
Synonym	cholangiocarcinoma, intrahepatic cholangiocarcinoma, intrahepatic, malignant cholangiocarcinomas, intrahepatic intrahepatic bile duct carcinoma intrahepatic bile duct carcinoma (disorder) intrahepatic carcinoma of bile duct intrahepatic carcinoma of the bile duct intrahepatic cholangiocarcinomas intrahepatic cholangiocellular carcinoma
DOID	DOID:4928
ICD10	ICD10CM:C22.1
UMLS	C0345905
SNOMED-CT	SNOMEDCT_US_2016_09_01:109842005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0019158 \| hepatitis \| 6 C0494165 \| hepatic metastasis \| 3 C0019163 \| hepatitis b \| 3 C0042721 \| viral hepatitis \| 3 C0023890 \| cirrhosis \| 2 C0023895 \| liver disease \| 2 C0008340 \| choledochal cyst \| 2 C0334254 \| lymphoepithelioma \| 1 C0023890 \| liver cirrhosis \| 1 C0042769 \| virus infection \| 1 C0001418 \| adenocarcinoma \| 1 C0011847 \| diabetes \| 1 C0206698 \| cholangiocarcinoma \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0008313 \| sclerosing cholangitis \| 1 C0566602 \| primary sclerosing cholangitis \| 1 C0042769 \| viral infection \| 1 C0019196 \| hepatitis c \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:105) 85320 \| ABCC11 \| 1.595 \| DISEASES 84740 \| AFAP1-AS1 \| 1.772 \| DISEASES 174 \| AFP \| 3.369 \| DISEASES 10768 \| AHCYL1 \| 2.056 \| DISEASES 11199 \| ANXA10 \| 1.665 \| DISEASES 369 \| ARAF \| 1.069 \| DISEASES 8289 \| ARID1A \| 2.811 \| DISEASES 196528 \| ARID2 \| 1.257 \| DISEASES 444 \| ASPH \| 1.737 \| DISEASES 8314 \| BAP1 \| 1.01 \| DISEASES 633 \| BGN \| 1.118 \| DISEASES 80114 \| BICC1 \| 2.489 \| DISEASES 648 \| BMI1 \| 1.241 \| DISEASES 685 \| BTC \| 2.014 \| DISEASES 1233 \| CCR4 \| 1.763 \| DISEASES 29126 \| CD274 \| 1.863 \| DISEASES 1029 \| CDKN2A \| 2.283 \| DISEASES 1045 \| CDX2 \| 2.904 \| DISEASES 10164 \| CHST4 \| 2.726 \| DISEASES 10970 \| CKAP4 \| 1.938 \| DISEASES 1364 \| CLDN4 \| 1.759 \| DISEASES 1366 \| CLDN7 \| 1.604 \| DISEASES 29034 \| CPS1-IT1 \| 2.907 \| DISEASES 1499 \| CTNNB1 \| 2.836 \| DISEASES 8451 \| CUL4A \| 2.095 \| DISEASES 7852 \| CXCR4 \| 1.329 \| DISEASES 30827 \| CXXC1 \| 2.129 \| DISEASES 9718 \| ECE2 \| 1.488 \| DISEASES 60528 \| ELAC2 \| 1.149 \| DISEASES 83481 \| EPPK1 \| 2.112 \| DISEASES 54206 \| ERRFI1 \| 1.564 \| DISEASES 2103 \| ESRRB \| 1.238 \| DISEASES 2070 \| EYA4 \| 1.281 \| DISEASES 356 \| FASLG \| 1.028 \| DISEASES 79633 \| FAT4 \| 1.381 \| DISEASES 2263 \| FGFR2 \| 3.06 \| DISEASES 6624 \| FSCN1 \| 1.042 \| DISEASES 5349 \| FXYD3 \| 1.26 \| DISEASES 728441 \| GGT2 \| 1.956 \| DISEASES 2778 \| GNAS \| 1.529 \| DISEASES 51280 \| GOLM1 \| 1.646 \| DISEASES 57120 \| GOPC \| 2.648 \| DISEASES 2719 \| GPC3 \| 3.095 \| DISEASES 3068 \| HDGF \| 2.522 \| DISEASES 9456 \| HOMER1 \| 1.012 \| DISEASES 3418 \| IDH2 \| 3.97 \| DISEASES 79831 \| KDM8 \| 1.835 \| DISEASES 3875 \| KRT18 \| 1.429 \| DISEASES 3880 \| KRT19 \| 4.531 \| DISEASES 3855 \| KRT7 \| 4.234 \| DISEASES 4102 \| MAGEA3 \| 1.286 \| DISEASES 5609 \| MAP2K7 \| 1.545 \| DISEASES 4216 \| MAP3K4 \| 1.77 \| DISEASES 153562 \| MARVELD2 \| 1.4 \| DISEASES 4193 \| MDM2 \| 2.033 \| DISEASES 4311 \| MME \| 1.663 \| DISEASES 4318 \| MMP9 \| 2.136 \| DISEASES 9788 \| MTSS1 \| 1.895 \| DISEASES 4582 \| MUC1 \| 3.796 \| DISEASES 4583 \| MUC2 \| 4.013 \| DISEASES 4585 \| MUC4 \| 2.06 \| DISEASES 4586 \| MUC5AC \| 3.977 \| DISEASES 4588 \| MUC6 \| 3.092 \| DISEASES 4609 \| MYC \| 1.44 \| DISEASES 55193 \| PBRM1 \| 2.798 \| DISEASES 5095 \| PCCA \| 1.391 \| DISEASES 10631 \| POSTN \| 1.464 \| DISEASES 51535 \| PPHLN1 \| 2.909 \| DISEASES 8842 \| PROM1 \| 2.109 \| DISEASES 112476 \| PRRT2 \| 5.489 \| DISEASES 5728 \| PTEN \| 2.208 \| DISEASES 5743 \| PTGS2 \| 1.652 \| DISEASES 7803 \| PTP4A1 \| 1.562 \| DISEASES 5784 \| PTPN14 \| 1.857 \| DISEASES 5774 \| PTPN3 \| 2.741 \| DISEASES 221002 \| RASGEF1A \| 2.418 \| DISEASES 11186 \| RASSF1 \| 1.215 \| DISEASES 55758 \| RCOR3 \| 2.886 \| DISEASES 473 \| RERE \| 1.511 \| DISEASES 54894 \| RNF43 \| 1.127 \| DISEASES 8732 \| RNGTT \| 1.038 \| DISEASES 6091 \| ROBO1 \| 1.695 \| DISEASES 6092 \| ROBO2 \| 1.416 \| DISEASES 6098 \| ROS1 \| 2.839 \| DISEASES 6171 \| RPL41 \| 1.84 \| DISEASES 60485 \| SAV1 \| 1.321 \| DISEASES 2810 \| SFN \| 2.583 \| DISEASES 53358 \| SHC3 \| 2.581 \| DISEASES 81539 \| SLC38A1 \| 3.023 \| DISEASES 4089 \| SMAD4 \| 1.586 \| DISEASES 23583 \| SMUG1 \| 2.559 \| DISEASES 64754 \| SMYD3 \| 2.093 \| DISEASES 6696 \| SPP1 \| 1.926 \| DISEASES 6794 \| STK11 \| 1.524 \| DISEASES 8831 \| SYNGAP1 \| 1.093 \| DISEASES 10460 \| TACC3 \| 1.955 \| DISEASES 6925 \| TCF4 \| 1.237 \| DISEASES 7027 \| TFDP1 \| 1.374 \| DISEASES 79838 \| TMC5 \| 2.726 \| DISEASES 9039 \| UBA3 \| 2.099 \| DISEASES 54575 \| UGT1A10 \| 1.253 \| DISEASES 10720 \| UGT2B11 \| 2.651 \| DISEASES 7398 \| USP1 \| 1.26 \| DISEASES 7422 \| VEGFA \| 1.466 \| DISEASES 11326 \| VSIG4 \| 2.635 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1705
Disease	intrahepatic cholangiocarcinoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0012115 \| Liver inflammation \| 6 HP:0002664 \| Neoplasia \| 4 HP:0006562 \| Viral hepatitis \| 3 HP:0001394 \| Hepatic cirrhosis \| 2 HP:0100890 \| Cyst of the ductus choledochus \| 2 HP:0030731 \| Carcinoma \| 2 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0030153 \| Cholangiocarcinoma \| 1

Disease ID	1705
Disease	intrahepatic cholangiocarcinoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C1321489 \| muir-torre syndrome C0940937 \| precancerous lesions C0155773 \| portal thrombosis C0085113 \| von recklinghausen disease C0085077 \| sweet syndrome C0022374 \| tumor of the jejunum
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	24309328	673	BRAF	umls:C0345905	BeFree	BRAF V600E-specific immunohistochemistry reveals low mutation rates in biliary tract cancer and restriction to intrahepatic cholangiocarcinoma.	0.000542884	2013	BRAF	7	140753336	A	T,G,C
rs7121	17356712	2778	GNAS	umls:C0345905	BeFree	GNAS1 T393C polymorphism is associated with clinical course in patients with intrahepatic cholangiocarcinoma.	0.000542884	2007	GNAS	20	58903752	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1705
Disease	intrahepatic cholangiocarcinoma
Case	(Waiting for update.)

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