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:0001408	HP:0001408	Bile duct proliferation	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0001408	HP:0001408	Bile duct proliferation	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1		111
HP:0001408	HP:0001408	Bile duct proliferation	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	.	247
HP:0001408	HP:0001408	Bile duct proliferation	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	.	342
HP:0001408	HP:0001408	Bile duct proliferation	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0001408	HP:0001408	Bile duct proliferation	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0001408	HP:0001408	Bile duct proliferation	0	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.	8
HP:0001408	HP:0001408	Bile duct proliferation	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0001408	HP:0001408	Bile duct proliferation	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001408	HP:0001408	Bile duct proliferation	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0001408	HP:0001408	Bile duct proliferation	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0001408	HP:0001408	Bile duct proliferation	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001408	HP:0001408	Bile duct proliferation	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001408	HP:0001408	Bile duct proliferation	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0001408	HP:0001408	Bile duct proliferation	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001408	HP:0001408	Bile duct proliferation	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0001408	HP:0001408	Bile duct proliferation	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0001408	HP:0001408	Bile duct proliferation	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0001408	HP:0001408	Bile duct proliferation	0	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5	.	167
HP:0001408	HP:0001408	Bile duct proliferation	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001408	HP:0001408	Bile duct proliferation	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0001408	HP:0001408	Bile duct proliferation	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0001408	HP:0001408	Bile duct proliferation	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3	.	166
HP:0001408	HP:0001408	Bile duct proliferation	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001408	HP:0001408	Bile duct proliferation	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136