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:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040281 - Very frequent	65
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A		180
HP:0031331	HP:0031331	Abnormal cardiomyocyte morphology	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0031331	HP:0031335	Abnormal cardiomyocyte mitochondrial morphology	1	CL E G H
HP:0031331	HP:0031334	Cardiomyocyte inclusion bodies	1	CL E G H
HP:0031331	HP:0031332	Cardiomyocyte degeneration	1	CL E G H
HP:0031331	HP:0031339	Abnormal cadiomyocyte dystrophin staining	1	CL E G H
HP:0031331	HP:0031338	Abnormal cardiomyocyte plakoglobin staining	1	CL E G H
HP:0031331	HP:0031337	Abnormal cardiomyocyte connexin43 staining	1	CL E G H
HP:0031331	HP:0031319	Cardiomyocyte hypertrophy	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0031331	HP:0031319	Cardiomyocyte hypertrophy	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	.	307
HP:0031331	HP:0031319	Cardiomyocyte hypertrophy	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0031331	HP:0031320	Cardiomyocyte mitochondrial proliferation	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0031331	HP:0031320	Cardiomyocyte mitochondrial proliferation	1	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0031331	HP:0031319	Cardiomyocyte hypertrophy	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0031331	HP:0031319	Cardiomyocyte hypertrophy	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma	.	747
HP:0031331	HP:0031319	Cardiomyocyte hypertrophy	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:0031331	HP:0031319	Cardiomyocyte hypertrophy	1	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0031331	HP:0031333	Myocardial sarcomeric disarray	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0031331	HP:0033997	Perinuclear cardiomyocyte vacuolization	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0031331	HP:0031320	Cardiomyocyte mitochondrial proliferation	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0031331	HP:0031319	Cardiomyocyte hypertrophy	1	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A		180
HP:0031331	HP:0031319	Cardiomyocyte hypertrophy	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0031331	HP:0031336	Intranuclear cardiomyocyte mitochondria	2	CL E G H