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:0012817	HP:0012817	Noncompaction cardiomyopathy	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7		28
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040284 - Very rare	15
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0012817	HP:0012817	Noncompaction cardiomyopathy	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0012817	HP:0012818	Biventricular noncompaction cardiomyopathy	1	CL E G H
HP:0012817	HP:0012816	Right ventricular noncompaction cardiomyopathy	1	CL E G H
HP:0012817	HP:0011664	Left ventricular noncompaction cardiomyopathy	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.	163
HP:0012817	HP:0011664	Left ventricular noncompaction cardiomyopathy	1	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7	.	28
HP:0012817	HP:0011664	Left ventricular noncompaction cardiomyopathy	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0012817	HP:0011664	Left ventricular noncompaction cardiomyopathy	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0012817	HP:0011664	Left ventricular noncompaction cardiomyopathy	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0012817	HP:0011664	Left ventricular noncompaction cardiomyopathy	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0012817	HP:0011664	Left ventricular noncompaction cardiomyopathy	1	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103
HP:0012817	HP:0011664	Left ventricular noncompaction cardiomyopathy	1	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230