Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal myocardium morphology (HP:0001637)

Parent Node:
Cardiomyopathy (HP:0001638)

..Starting node
..Dilated cardiomyopathy (HP:0001644)

Term ID:

1644

Name:

Dilated cardiomyopathy

Synonym:

Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle

Definition:

Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.

Comments:

Reference:

HP:0001644

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrial cardiomyopathy (HP:0200127)

Histiocytoid cardiomyopathy (HP:0005152)

Hypertrophic cardiomyopathy (HP:0001639)

Noncompaction cardiomyopathy (HP:0012817)

Restrictive cardiomyopathy (HP:0001723)

Right ventricular cardiomyopathy (HP:0011663)

Takotsubo cardiomyopathy (HP:0011665)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O			254
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		254
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency	.		58
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		58
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.		98
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	HP:0040283 - Occasional		96
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	.		208
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		208
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		307
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	HP:0040283 - Occasional		25
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040283 - Occasional		25
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	HP:0003593 - Infantile onset	404
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		95
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh	.		204
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		204
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent		8
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			129
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.		101
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii	.		46
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		46
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M			104
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		104
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I			263
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		263
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B	.		1496
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		1496
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.		25
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040281 - Very frequent		25
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.		55
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		55
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent		9
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15			9
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB			358
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		358
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.		747
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome	HP:0040281 - Very frequent		747
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		747
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	HP:0040283 - Occasional		12
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy	HP:0040281 - Very frequent		111
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	HP:0040283 - Occasional		68
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		36
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040283 - Occasional		157
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X	.		184
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040283 - Occasional		184
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		184
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	HP:0040284 - Very rare		10
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B	.		35
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		35
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.		120
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.		41
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		41
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent		15
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		2
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040284 - Very rare		580
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A	.
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare		35
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E			111
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.		222
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		193
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		128
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj	.		279
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		279
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency	HP:0040281 - Very frequent		211
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	.		286
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		286
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W			10
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A			645
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	HP:0040281 - Very frequent		645
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040281 - Very frequent		645
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		645
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	6636	ORPHA:168796	Heart-hand syndrome, Slovenian type	HP:0040281 - Very frequent		645
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	6636	OMIM:610140	Heart-hand syndrome, Slovenian type	.		645
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.		645
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040284 - Very rare		281
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	HP:0040283 - Occasional		11
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		1143
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10	.		1143
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee	.		452
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		452
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S	.		1269
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		1269
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040283 - Occasional		1269
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	HP:0040283 - Occasional		1269
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.		1269
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	HP:0040283 - Occasional		217
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		217
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.		3
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc	.	HP:0003581 - Adult onset	167
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		167
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	HP:0040284 - Very rare		5
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	HP:0040284 - Very rare		5
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P			57
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		57
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional		464
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional		221
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C	.
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		148
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8	.		148
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U	.		241
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		241
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V	.		59
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		59
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn	.		212
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		212
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.		10
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd	.		363
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		363
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			1103
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.		1134
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		1134
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg	.	HP:0003623 - Neonatal onset	304
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		304
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	HP:0040283 - Occasional		113
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L			223
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		223
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		1129
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		508
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome	HP:0040281 - Very frequent
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		78
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		171
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		136
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z			73
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		73
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff	.		180
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A	.		180
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		180
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy			1
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	.		248
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		248
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	HP:0040284 - Very rare
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y	.		230
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		230
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			145
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	HP:0040283 - Occasional		43
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G			7128
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		7128
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.		7128
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional		113
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		85
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	HP:0040283 - Occasional		25
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W			248
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		248
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040284 - Very rare		130
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.		8
HP:0001644	HP:0001644	Dilated cardiomyopathy	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9

Genes (175) :ABCC9 ACAD8 ACAD9 ACADVL ACTA1 ACTC1 ACTN2 ADA2 ADCY5 ALMS1 ANKRD1 ANKRD11 ATP5F1D ATP6 BAG3 BAG5 BBS2 BOLA3 BRCC3 CAP2 CASQ2 CASZ1 CHKB COL7A1 COX1 COX2 COX3 COX7B CPT2 CRYAB CSRP3 DEF6 DES DMD DNAJC19 DOLK DPM3 DSG2 DSP ENPP1 EPG5 ERBB3 EYA4 FHL1 FHL2 FKRP FKTN GABRD GATA5 GATAD1 GLB1 HADH HADHA HADHB HAMP HAND2 HBB HCCS HJV HMGCL HSPG2 JPH2 JUP KAT6B KCNAB2 KCNJ2 KCNJ5 LAMA3 LAMA4 LAMB3 LAMC2 LAMP2 LDB3 LIMS2 LMNA LMOD2 LRP12 LUZP1 MEFV MGME1 MLYCD MMACHC MMP1 MMP23B MYBPC3 MYH6 MYH7 MYL2 MYPN NAXD ND1 ND2 ND3 ND4 ND5 ND6 NDUFAF3 NDUFB11 NDUFB8 NDUFS2 NEXN NUP107 PDPN PGM1 PLN POLG POLG2 POMT2 PPCS PRDM16 PRKCZ PSEN1 PSEN2 RAF1 RBCK1 RBM20 RERE RNF220 RPL3L RRM2B RYR1 RYR2 SCN5A SCO2 SDHA SDHD SELENON SGCA SGCB SGCD SKI SLC25A4 SLC2A10 SLC5A6 SLC6A6 SPEG SPEN SURF1 SYNE1 SYNE2 TAF1A TAFAZZIN TCAP TERT TKFC TMEM43 TMPO TNNC1 TNNI3 TNNI3K TNNT2 TOP3A TPM1 TPM2 TPM3 TRDN TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TSFM TTN TWNK TXNRD2 UBE4B UBR1 VCL VPS13A XK XRCC4

Diseases (160) :OMIM:608569 ORPHA:154 OMIM:611283 ORPHA:79159 ORPHA:99901 OMIM:611126 ORPHA:26793 OMIM:255310 OMIM:161800 OMIM:613424 OMIM:612158 OMIM:615688 OMIM:606703 ORPHA:324588 ORPHA:64 OMIM:203800 ORPHA:261250 OMIM:618120 ORPHA:255210 OMIM:613881 OMIM:619747 OMIM:615981 OMIM:614299 ORPHA:280679 OMIM:604772 ORPHA:1606 OMIM:602541 ORPHA:89842 ORPHA:79408 ORPHA:550 ORPHA:2556 OMIM:600649 OMIM:608836 OMIM:615184 OMIM:607482 OMIM:619573 OMIM:604765 OMIM:601419 OMIM:302045 OMIM:310200 ORPHA:206546 OMIM:610198 ORPHA:66634 OMIM:610768 ORPHA:91131 ORPHA:263494 OMIM:612937 OMIM:612877 OMIM:605676 OMIM:615821 ORPHA:65282 OMIM:208000 OMIM:242840 OMIM:607598 OMIM:605362 ORPHA:217622 OMIM:300718 ORPHA:34515 OMIM:607155 OMIM:611615 ORPHA:272 OMIM:253800 OMIM:617912 OMIM:614672 OMIM:230500 OMIM:231530 ORPHA:71212 OMIM:609015 ORPHA:79230 ORPHA:231214 ORPHA:231226 OMIM:602390 ORPHA:20 OMIM:619492 OMIM:601214 OMIM:603736 ORPHA:37553 ORPHA:79404 OMIM:615235 OMIM:300257 ORPHA:34587 OMIM:601493 OMIM:616827 ORPHA:98853 ORPHA:98855 OMIM:115200 ORPHA:2229 OMIM:181350 ORPHA:300751 ORPHA:168796 OMIM:610140 OMIM:212112 OMIM:619897 OMIM:164310 OMIM:608068 ORPHA:3243 OMIM:615084 ORPHA:352447 OMIM:248360 ORPHA:79282 OMIM:615396 OMIM:613252 OMIM:613426 ORPHA:59135 OMIM:160500 OMIM:255160 OMIM:619424 OMIM:615248 OMIM:618321 ORPHA:70474 OMIM:300952 OMIM:613122 OMIM:618348 OMIM:616730 OMIM:614921 OMIM:609909 ORPHA:254892 OMIM:607459 ORPHA:70595 ORPHA:206559 OMIM:618189 OMIM:615373 OMIM:613694 OMIM:613697 OMIM:615916 OMIM:615895 OMIM:613172 OMIM:619688 OMIM:619371 OMIM:601154 OMIM:613642 OMIM:252011 OMIM:619167 OMIM:608099 OMIM:604286 OMIM:606685 ORPHA:3342 OMIM:619903 OMIM:145350 OMIM:615959 ORPHA:111 OMIM:302060 OMIM:613989 OMIM:618805 OMIM:611879 OMIM:613286 OMIM:611880 OMIM:616117 OMIM:601494 OMIM:618097 OMIM:611878 ORPHA:1349 OMIM:610505 OMIM:604145 OMIM:611705 OMIM:243800 OMIM:611407 ORPHA:2388 OMIM:300842 OMIM:616541

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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