PedAM

Pediatric Disease Annotations & Medicines


	intrahepatic cholangiocarcinoma

Disease ID	986
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:21) C0019158 \| hepatitis \| 6 C0494165 \| hepatic metastasis \| 3 C0019163 \| hepatitis b \| 3 C0042721 \| viral hepatitis \| 3 C0023890 \| cirrhosis \| 2 C0008340 \| choledochal cyst \| 2 C0023895 \| liver disease \| 2 C0008313 \| sclerosing cholangitis \| 1 C0019196 \| hepatitis c \| 1 C0334254 \| lymphoepithelioma \| 1 C0042769 \| virus infection \| 1 C0023890 \| liver cirrhosis \| 1 C0153452 \| gallbladder cancer \| 1 C0153452 \| gallbladder ca \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0042769 \| viral infection \| 1 C0566602 \| primary sclerosing cholangitis \| 1 C0206698 \| cholangiocarcinoma \| 1 C0005684 \| bladder cancer \| 1 C0001418 \| adenocarcinoma \| 1 C0011847 \| diabetes \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:226) 84740 \| AFAP1-AS1 \| DISEASES 29034 \| CPS1-IT1 \| DISEASES 9052 \| GPRC5A \| DISEASES 6591 \| SNAI2 \| DISEASES 1015 \| CDH17 \| DISEASES 2273 \| FHL1 \| DISEASES 55359 \| STYK1 \| DISEASES 54474 \| KRT20 \| DISEASES 55711 \| FAR2 \| DISEASES 51208 \| CLDN18 \| DISEASES 57167 \| SALL4 \| DISEASES 5716 \| PSMD10 \| DISEASES 10857 \| PGRMC1 \| DISEASES 4313 \| MMP2 \| DISEASES 9057 \| SLC7A6 \| DISEASES 1048 \| CEACAM5 \| DISEASES 3082 \| HGF \| DISEASES 7473 \| WNT3 \| DISEASES 595 \| CCND1 \| DISEASES 10635 \| RAD51AP1 \| DISEASES 5754 \| PTK7 \| DISEASES 4292 \| MLH1 \| DISEASES 4436 \| MSH2 \| DISEASES 7276 \| TTR \| DISEASES 9429 \| ABCG2 \| DISEASES 63923 \| TNN \| DISEASES 6615 \| SNAI1 \| DISEASES 1088 \| CEACAM8 \| DISEASES 6662 \| SOX9 \| DISEASES 2678 \| GGT1 \| DISEASES 3169 \| FOXA1 \| DISEASES 9910 \| RABGAP1L \| DISEASES 25943 \| C20orf194 \| DISEASES 9040 \| UBE2M \| DISEASES 5791 \| PTPRE \| DISEASES 3845 \| KRAS \| DISEASES 10894 \| LYVE1 \| DISEASES 8932 \| MBD2 \| DISEASES 10752 \| CHL1 \| DISEASES 4853 \| NOTCH2 \| DISEASES 301 \| ANXA1 \| DISEASES 4316 \| MMP7 \| DISEASES 3417 \| IDH1 \| DISEASES 9891 \| NUAK1 \| DISEASES 9097 \| USP14 \| DISEASES 999 \| CDH1 \| DISEASES 312 \| ANXA13 \| DISEASES 55771 \| PRR11 \| DISEASES 2201 \| FBN2 \| DISEASES 7011 \| TEP1 \| DISEASES 8030 \| CCDC6 \| DISEASES 4072 \| EPCAM \| DISEASES 3791 \| KDR \| DISEASES 5290 \| PIK3CA \| DISEASES 1421 \| CRYGD \| DISEASES 25759 \| SHC2 \| DISEASES 6774 \| STAT3 \| DISEASES 54908 \| SPDL1 \| DISEASES 4683 \| NBN \| DISEASES 7472 \| WNT2 \| DISEASES 5243 \| ABCB1 \| DISEASES 1021 \| CDK6 \| DISEASES 5288 \| PIK3C2G \| DISEASES 1000 \| CDH2 \| DISEASES 7157 \| TP53 \| DISEASES 2064 \| ERBB2 \| DISEASES 207 \| AKT1 \| DISEASES 2840 \| GPR17 \| DISEASES 3697 \| ITIH1 \| DISEASES 1956 \| EGFR \| DISEASES 4851 \| NOTCH1 \| DISEASES 7424 \| VEGFC \| DISEASES 55294 \| FBXW7 \| DISEASES 10413 \| YAP1 \| DISEASES 8404 \| SPARCL1 \| DISEASES 3694 \| ITGB6 \| DISEASES 8714 \| ABCC3 \| DISEASES 56934 \| CA10 \| DISEASES 3815 \| KIT \| DISEASES 909 \| CD1A \| DISEASES 1013 \| CDH15 \| DISEASES 54069 \| MIS18A \| DISEASES 8883 \| NAE1 \| DISEASES 7031 \| TFF1 \| DISEASES 5130 \| PCYT1A \| DISEASES 3856 \| KRT8 \| DISEASES 9965 \| FGF19 \| DISEASES 116362 \| RBP7 \| DISEASES 10630 \| PDPN \| DISEASES 213 \| ALB \| DISEASES 6374 \| CXCL5 \| DISEASES 51705 \| EMCN \| DISEASES 8495 \| PPFIBP2 \| DISEASES 6240 \| RRM1 \| DISEASES 124935 \| SLC43A2 \| DISEASES 4255 \| MGMT \| DISEASES 5968 \| REG1B \| DISEASES 3592 \| IL12A \| DISEASES 375611 \| SLC26A5 \| DISEASES 7363 \| UGT2B4 \| DISEASES 10963 \| STIP1 \| DISEASES 4968 \| OGG1 \| DISEASES 255239 \| ANKK1 \| DISEASES 9435 \| CHST2 \| DISEASES 4323 \| MMP14 \| DISEASES 6199 \| RPS6KB2 \| DISEASES 3872 \| KRT17 \| DISEASES 2147 \| F2 \| DISEASES 155465 \| AGR3 \| DISEASES 660 \| BMX \| DISEASES 1212 \| CLTB \| DISEASES 3265 \| HRAS \| DISEASES 6868 \| ADAM17 \| DISEASES 947 \| CD34 \| DISEASES 358 \| AQP1 \| DISEASES 10007 \| GNPDA1 \| DISEASES 56667 \| MUC13 \| DISEASES 7094 \| TLN1 \| DISEASES 4233 \| MET \| DISEASES 9377 \| COX5A \| DISEASES 4684 \| NCAM1 \| DISEASES 8834 \| TMEM11 \| DISEASES 2146 \| EZH2 \| DISEASES 8289 \| ARID1A \| DISEASES 153562 \| MARVELD2 \| DISEASES 60485 \| SAV1 \| DISEASES 6794 \| STK11 \| DISEASES 10460 \| TACC3 \| DISEASES 633 \| BGN \| DISEASES 3855 \| KRT7 \| DISEASES 3418 \| IDH2 \| DISEASES 1233 \| CCR4 \| DISEASES 9456 \| HOMER1 \| DISEASES 196528 \| ARID2 \| DISEASES 60528 \| ELAC2 \| DISEASES 23583 \| SMUG1 \| DISEASES 473 \| RERE \| DISEASES 2810 \| SFN \| DISEASES 10164 \| CHST4 \| DISEASES 4089 \| SMAD4 \| DISEASES 1364 \| CLDN4 \| DISEASES 7398 \| USP1 \| DISEASES 54575 \| UGT1A10 \| DISEASES 1499 \| CTNNB1 \| DISEASES 6925 \| TCF4 \| DISEASES 2070 \| EYA4 \| DISEASES 85320 \| ABCC11 \| DISEASES 11186 \| RASSF1 \| DISEASES 112476 \| PRRT2 \| DISEASES 11199 \| ANXA10 \| DISEASES 1366 \| CLDN7 \| DISEASES 4311 \| MME \| DISEASES 9039 \| UBA3 \| DISEASES 3880 \| KRT19 \| DISEASES 5784 \| PTPN14 \| DISEASES 5743 \| PTGS2 \| DISEASES 356 \| FASLG \| DISEASES 3068 \| HDGF \| DISEASES 4582 \| MUC1 \| DISEASES 57120 \| GOPC \| DISEASES 6098 \| ROS1 \| DISEASES 8732 \| RNGTT \| DISEASES 10768 \| AHCYL1 \| DISEASES 4102 \| MAGEA3 \| DISEASES 7803 \| PTP4A1 \| DISEASES 2778 \| GNAS \| DISEASES 5728 \| PTEN \| DISEASES 7422 \| VEGFA \| DISEASES 4318 \| MMP9 \| DISEASES 80114 \| BICC1 \| DISEASES 5774 \| PTPN3 \| DISEASES 11326 \| VSIG4 \| DISEASES 7027 \| TFDP1 \| DISEASES 8451 \| CUL4A \| DISEASES 53358 \| SHC3 \| DISEASES 5095 \| PCCA \| DISEASES 648 \| BMI1 \| DISEASES 369 \| ARAF \| DISEASES 54206 \| ERRFI1 \| DISEASES 4609 \| MYC \| DISEASES 10970 \| CKAP4 \| DISEASES 444 \| ASPH \| DISEASES 10631 \| POSTN \| DISEASES 2103 \| ESRRB \| DISEASES 1045 \| CDX2 \| DISEASES 29126 \| CD274 \| DISEASES 6624 \| FSCN1 \| DISEASES 51280 \| GOLM1 \| DISEASES 3875 \| KRT18 \| DISEASES 64754 \| SMYD3 \| DISEASES 4216 \| MAP3K4 \| DISEASES 2719 \| GPC3 \| DISEASES 79633 \| FAT4 \| DISEASES 55193 \| PBRM1 \| DISEASES 6696 \| SPP1 \| DISEASES 51535 \| PPHLN1 \| DISEASES 685 \| BTC \| DISEASES 174 \| AFP \| DISEASES 221002 \| RASGEF1A \| DISEASES 79838 \| TMC5 \| DISEASES 5609 \| MAP2K7 \| DISEASES 81539 \| SLC38A1 \| DISEASES 9718 \| ECE2 \| DISEASES 54894 \| RNF43 \| DISEASES 728441 \| GGT2 \| DISEASES 7852 \| CXCR4 \| DISEASES 10720 \| UGT2B11 \| DISEASES 5349 \| FXYD3 \| DISEASES 30827 \| CXXC1 \| DISEASES 1029 \| CDKN2A \| DISEASES 79831 \| KDM8 \| DISEASES 8831 \| SYNGAP1 \| DISEASES 4588 \| MUC6 \| DISEASES 2263 \| FGFR2 \| DISEASES 55758 \| RCOR3 \| DISEASES 4583 \| MUC2 \| DISEASES 8842 \| PROM1 \| DISEASES 8314 \| BAP1 \| DISEASES 4193 \| MDM2 \| DISEASES 6092 \| ROBO2 \| DISEASES 4585 \| MUC4 \| DISEASES 6091 \| ROBO1 \| DISEASES 6171 \| RPL41 \| DISEASES 9788 \| MTSS1 \| DISEASES 4586 \| MUC5AC \| DISEASES 83481 \| EPPK1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	986
Disease	intrahepatic cholangiocarcinoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0012115 \| Liver inflammation \| 6 HP:0002664 \| Neoplasia \| 4 HP:0006562 \| Viral hepatitis \| 3 HP:0100890 \| Cyst of the ductus choledochus \| 2 HP:0001394 \| Hepatic cirrhosis \| 2 HP:0030731 \| Carcinoma \| 2 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0009725 \| Bladder neoplasm \| 1 HP:0030153 \| Cholangiocarcinoma \| 1

Disease ID	986
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.)

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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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