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:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction		286
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7		28
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31		7
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0030681	HP:0030681	Abnormal morphology of myocardial trabeculae	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0030681	HP:0031193	Abnormal morphology of right ventricular trabeculae	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction		286
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7		28
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31		7
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0030681	HP:0031192	Abnormal morphology of left ventricular trabeculae	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0030681	HP:0031196	Thin myocardium compact layer	2	CL E G H
HP:0030681	HP:0031195	Apical hypertrabeculation of the left ventricle	2	CL E G H
HP:0030681	HP:0031194	Increased density of left ventricular trabeculae	2	CL E G H
HP:0030681	HP:0030682	Left ventricular noncompaction	2	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	HP:0040283 - Occasional	208
HP:0030681	HP:0030682	Left ventricular noncompaction	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	HP:0040283 - Occasional	307
HP:0030681	HP:0030682	Left ventricular noncompaction	2	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0030681	HP:0030682	Left ventricular noncompaction	2	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0030681	HP:0030682	Left ventricular noncompaction	2	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.	163
HP:0030681	HP:0030682	Left ventricular noncompaction	2	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	HP:0040283 - Occasional	185
HP:0030681	HP:0030682	Left ventricular noncompaction	2	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	HP:0040283 - Occasional	286
HP:0030681	HP:0030682	Left ventricular noncompaction	2	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7	.	28
HP:0030681	HP:0030682	Left ventricular noncompaction	2	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.	7
HP:0030681	HP:0030682	Left ventricular noncompaction	2	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10	.	1143
HP:0030681	HP:0030682	Left ventricular noncompaction	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S	HP:0040283 - Occasional	1269
HP:0030681	HP:0030682	Left ventricular noncompaction	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0030681	HP:0030682	Left ventricular noncompaction	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	13
HP:0030681	HP:0030682	Left ventricular noncompaction	2	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8	.	148
HP:0030681	HP:0030682	Left ventricular noncompaction	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	1134
HP:0030681	HP:0030682	Left ventricular noncompaction	2	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0030681	HP:0030682	Left ventricular noncompaction	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0030681	HP:0030682	Left ventricular noncompaction	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0030681	HP:0030682	Left ventricular noncompaction	2	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	HP:0040283 - Occasional	248
HP:0030681	HP:0030682	Left ventricular noncompaction	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56