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:0012269	HP:0012269	Abnormal muscle glycogen content	0	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII		34
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle		52
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency		64
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency		166
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0012269	HP:0012269	Abnormal muscle glycogen content	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012269	HP:0009051	Increased muscle glycogen content	1	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII	.	34
HP:0012269	HP:0009051	Increased muscle glycogen content	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0012269	HP:0012270	Decreased muscle glycogen content	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0012269	HP:0012270	Decreased muscle glycogen content	1	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle		52
HP:0012269	HP:0009051	Increased muscle glycogen content	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0012269	HP:0009051	Increased muscle glycogen content	1	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency	HP:0040281 - Very frequent	64
HP:0012269	HP:0009051	Increased muscle glycogen content	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0012269	HP:0009051	Increased muscle glycogen content	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0012269	HP:0009051	Increased muscle glycogen content	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0012269	HP:0009051	Increased muscle glycogen content	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.	101
HP:0012269	HP:0009051	Increased muscle glycogen content	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0012269	HP:0009051	Increased muscle glycogen content	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040281 - Very frequent	166
HP:0012269	HP:0009051	Increased muscle glycogen content	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent	101
HP:0012269	HP:0009051	Increased muscle glycogen content	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent
HP:0012269	HP:0030231	Glycogen accumulation in muscle fiber lysosomes	2	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0012269	HP:0030232	Increased sarcoplasmic glycogen	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0012269	HP:0030232	Increased sarcoplasmic glycogen	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0012269	HP:0030231	Glycogen accumulation in muscle fiber lysosomes	2	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040281 - Very frequent	166