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:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy		12
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency		71
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71
HP:0500030	HP:0500030	Abnormal hepatic glycogen storage	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent	12
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.	101
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040281 - Very frequent	71
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71
HP:0500030	HP:0006568	Increased hepatic glycogen content	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent	110