Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100574	HP:0100574	Biliary tract neoplasm	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0100574	HP:0100574	Biliary tract neoplasm	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0100574	HP:0100574	Biliary tract neoplasm	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	5769
HP:0100574	HP:0100574	Biliary tract neoplasm	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	7642
HP:0100574	HP:0100574	Biliary tract neoplasm	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0100574	HP:0100574	Biliary tract neoplasm	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0100574	HP:0100574	Biliary tract neoplasm	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0100574	HP:0100574	Biliary tract neoplasm	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0100574	HP:0100574	Biliary tract neoplasm	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0100574	HP:0100574	Biliary tract neoplasm	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0100574	HP:0100574	Biliary tract neoplasm	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0100574	HP:0100574	Biliary tract neoplasm	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	1
HP:0100574	HP:0100574	Biliary tract neoplasm	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040284 - Very rare	5
HP:0100574	HP:0100574	Biliary tract neoplasm	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0100574	HP:0100574	Biliary tract neoplasm	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0100574	HP:0100574	Biliary tract neoplasm	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0100574	HP:0025519	Multiple biliary hamartomas	1	CL E G H
HP:0100574	HP:0100575	Neoplasm of the gallbladder	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	253
HP:0100574	HP:0030153	Cholangiocarcinoma	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040284 - Very rare
HP:0100574	HP:0030153	Cholangiocarcinoma	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	4
HP:0100574	HP:0100575	Neoplasm of the gallbladder	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	2
HP:0100574	HP:0030153	Cholangiocarcinoma	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0100574	HP:0030153	Cholangiocarcinoma	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040284 - Very rare	38
HP:0100574	HP:0100575	Neoplasm of the gallbladder	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	1
HP:0100574	HP:0030153	Cholangiocarcinoma	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0100574	HP:0030153	Cholangiocarcinoma	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	563
HP:0100574	HP:0030153	Cholangiocarcinoma	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040284 - Very rare	563
HP:0100574	HP:0100575	Neoplasm of the gallbladder	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	81
HP:0100574	HP:0030153	Cholangiocarcinoma	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0100574	HP:0100575	Neoplasm of the gallbladder	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare
HP:0100574	HP:0100575	Neoplasm of the gallbladder	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	241
HP:0100574	HP:0030153	Cholangiocarcinoma	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241