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:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040282 - Frequent	111
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent	563
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030948	HP:0030948	Elevated gamma-glutamyltransferase level	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8