Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 atrioventricular valve physiology (HP:0031650)

Parent Node:
Abnormal mitral valve physiology (HP:0031481)

..Starting node
..Mitral regurgitation (HP:0001653)

Term ID:

1653

Name:

Mitral regurgitation

Synonym:

Mitral incompetence; Mitral insufficiency; Mitral regurgitation, mild; Mitral valve insufficiency; Mitral valve regurgitation

Definition:

An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.

Comments:

Reference:

HP:0001653

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mitral stenosis (HP:0001718)

Systolic anterior motion of the mitral valve (HP:0031656)

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:0001653	HP:0001653	Mitral regurgitation	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0001653	HP:0001653	Mitral regurgitation	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	67
HP:0001653	HP:0001653	Mitral regurgitation	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	76
HP:0001653	HP:0001653	Mitral regurgitation	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0001653	HP:0001653	Mitral regurgitation	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	63
HP:0001653	HP:0001653	Mitral regurgitation	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0001653	HP:0001653	Mitral regurgitation	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0001653	HP:0001653	Mitral regurgitation	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040283 - Occasional	95
HP:0001653	HP:0001653	Mitral regurgitation	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent	19
HP:0001653	HP:0001653	Mitral regurgitation	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001653	HP:0001653	Mitral regurgitation	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0001653	HP:0001653	Mitral regurgitation	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27	.	89
HP:0001653	HP:0001653	Mitral regurgitation	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0001653	HP:0001653	Mitral regurgitation	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	356
HP:0001653	HP:0001653	Mitral regurgitation	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0001653	HP:0001653	Mitral regurgitation	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0001653	HP:0001653	Mitral regurgitation	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0001653	HP:0001653	Mitral regurgitation	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0001653	HP:0001653	Mitral regurgitation	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001653	HP:0001653	Mitral regurgitation	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0001653	HP:0001653	Mitral regurgitation	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent	11
HP:0001653	HP:0001653	Mitral regurgitation	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001653	HP:0001653	Mitral regurgitation	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0001653	HP:0001653	Mitral regurgitation	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0001653	HP:0001653	Mitral regurgitation	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0001653	HP:0001653	Mitral regurgitation	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0001653	HP:0001653	Mitral regurgitation	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	373
HP:0001653	HP:0001653	Mitral regurgitation	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0001653	HP:0001653	Mitral regurgitation	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0001653	HP:0001653	Mitral regurgitation	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	660
HP:0001653	HP:0001653	Mitral regurgitation	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	325
HP:0001653	HP:0001653	Mitral regurgitation	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0001653	HP:0001653	Mitral regurgitation	0	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii	.	46
HP:0001653	HP:0001653	Mitral regurgitation	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0001653	HP:0001653	Mitral regurgitation	0	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2	.	27
HP:0001653	HP:0001653	Mitral regurgitation	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0001653	HP:0001653	Mitral regurgitation	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0001653	HP:0001653	Mitral regurgitation	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001653	HP:0001653	Mitral regurgitation	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0001653	HP:0001653	Mitral regurgitation	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.	163
HP:0001653	HP:0001653	Mitral regurgitation	0	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0001653	HP:0001653	Mitral regurgitation	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0001653	HP:0001653	Mitral regurgitation	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0001653	HP:0001653	Mitral regurgitation	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0001653	HP:0001653	Mitral regurgitation	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001653	HP:0001653	Mitral regurgitation	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001653	HP:0001653	Mitral regurgitation	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001653	HP:0001653	Mitral regurgitation	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0001653	HP:0001653	Mitral regurgitation	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0001653	HP:0001653	Mitral regurgitation	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0001653	HP:0001653	Mitral regurgitation	0	FBLN5 CL E G H	10516	3602	OMIM:614434	Cutis laxa, autosomal dominant 2	.	63
HP:0001653	HP:0001653	Mitral regurgitation	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0001653	HP:0001653	Mitral regurgitation	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0001653	HP:0001653	Mitral regurgitation	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040280 - Obligate	1361
HP:0001653	HP:0001653	Mitral regurgitation	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0001653	HP:0001653	Mitral regurgitation	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	1361
HP:0001653	HP:0001653	Mitral regurgitation	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0001653	HP:0001653	Mitral regurgitation	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0001653	HP:0001653	Mitral regurgitation	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0001653	HP:0001653	Mitral regurgitation	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0001653	HP:0001653	Mitral regurgitation	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	.	493
HP:0001653	HP:0001653	Mitral regurgitation	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0001653	HP:0001653	Mitral regurgitation	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0001653	HP:0001653	Mitral regurgitation	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26	HP:0040283 - Occasional	197
HP:0001653	HP:0001653	Mitral regurgitation	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	197
HP:0001653	HP:0001653	Mitral regurgitation	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001653	HP:0001653	Mitral regurgitation	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0001653	HP:0001653	Mitral regurgitation	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0001653	HP:0001653	Mitral regurgitation	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0001653	HP:0001653	Mitral regurgitation	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0001653	HP:0001653	Mitral regurgitation	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0001653	HP:0001653	Mitral regurgitation	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001653	HP:0001653	Mitral regurgitation	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent	240
HP:0001653	HP:0001653	Mitral regurgitation	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0001653	HP:0001653	Mitral regurgitation	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040283 - Occasional	5
HP:0001653	HP:0001653	Mitral regurgitation	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001653	HP:0001653	Mitral regurgitation	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001653	HP:0001653	Mitral regurgitation	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001653	HP:0001653	Mitral regurgitation	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	99
HP:0001653	HP:0001653	Mitral regurgitation	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	60
HP:0001653	HP:0001653	Mitral regurgitation	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0001653	HP:0001653	Mitral regurgitation	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001653	HP:0001653	Mitral regurgitation	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0001653	HP:0001653	Mitral regurgitation	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0001653	HP:0001653	Mitral regurgitation	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0001653	HP:0001653	Mitral regurgitation	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0001653	HP:0001653	Mitral regurgitation	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0001653	HP:0001653	Mitral regurgitation	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001653	HP:0001653	Mitral regurgitation	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001653	HP:0001653	Mitral regurgitation	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001653	HP:0001653	Mitral regurgitation	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001653	HP:0001653	Mitral regurgitation	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001653	HP:0001653	Mitral regurgitation	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	HP:0040283 - Occasional	4
HP:0001653	HP:0001653	Mitral regurgitation	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0001653	HP:0001653	Mitral regurgitation	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001653	HP:0001653	Mitral regurgitation	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	2157
HP:0001653	HP:0001653	Mitral regurgitation	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	73
HP:0001653	HP:0001653	Mitral regurgitation	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0001653	HP:0001653	Mitral regurgitation	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0001653	HP:0001653	Mitral regurgitation	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.	645
HP:0001653	HP:0001653	Mitral regurgitation	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001653	HP:0001653	Mitral regurgitation	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional	6
HP:0001653	HP:0001653	Mitral regurgitation	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	123
HP:0001653	HP:0001653	Mitral regurgitation	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001653	HP:0001653	Mitral regurgitation	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0001653	HP:0001653	Mitral regurgitation	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent	11
HP:0001653	HP:0001653	Mitral regurgitation	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0001653	HP:0001653	Mitral regurgitation	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001653	HP:0001653	Mitral regurgitation	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0001653	HP:0001653	Mitral regurgitation	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001653	HP:0001653	Mitral regurgitation	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001653	HP:0001653	Mitral regurgitation	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001653	HP:0001653	Mitral regurgitation	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001653	HP:0001653	Mitral regurgitation	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0001653	HP:0001653	Mitral regurgitation	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001653	HP:0001653	Mitral regurgitation	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0001653	HP:0001653	Mitral regurgitation	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	HP:0040283 - Occasional	217
HP:0001653	HP:0001653	Mitral regurgitation	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	217
HP:0001653	HP:0001653	Mitral regurgitation	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0001653	HP:0001653	Mitral regurgitation	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0001653	HP:0001653	Mitral regurgitation	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0001653	HP:0001653	Mitral regurgitation	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0001653	HP:0001653	Mitral regurgitation	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0001653	HP:0001653	Mitral regurgitation	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare	1952
HP:0001653	HP:0001653	Mitral regurgitation	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001653	HP:0001653	Mitral regurgitation	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0001653	HP:0001653	Mitral regurgitation	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	178
HP:0001653	HP:0001653	Mitral regurgitation	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0001653	HP:0001653	Mitral regurgitation	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0001653	HP:0001653	Mitral regurgitation	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent	12
HP:0001653	HP:0001653	Mitral regurgitation	0	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys		342
HP:0001653	HP:0001653	Mitral regurgitation	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0001653	HP:0001653	Mitral regurgitation	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0001653	HP:0001653	Mitral regurgitation	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001653	HP:0001653	Mitral regurgitation	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0001653	HP:0001653	Mitral regurgitation	0	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8	HP:0040283 - Occasional	148
HP:0001653	HP:0001653	Mitral regurgitation	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0001653	HP:0001653	Mitral regurgitation	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001653	HP:0001653	Mitral regurgitation	0	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn	.	212
HP:0001653	HP:0001653	Mitral regurgitation	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0001653	HP:0001653	Mitral regurgitation	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001653	HP:0001653	Mitral regurgitation	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.	40
HP:0001653	HP:0001653	Mitral regurgitation	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0001653	HP:0001653	Mitral regurgitation	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0001653	HP:0001653	Mitral regurgitation	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0001653	HP:0001653	Mitral regurgitation	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0001653	HP:0001653	Mitral regurgitation	0	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia	HP:0040283 - Occasional	2
HP:0001653	HP:0001653	Mitral regurgitation	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0001653	HP:0001653	Mitral regurgitation	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0001653	HP:0001653	Mitral regurgitation	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0001653	HP:0001653	Mitral regurgitation	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0001653	HP:0001653	Mitral regurgitation	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	HP:0040283 - Occasional	504
HP:0001653	HP:0001653	Mitral regurgitation	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040283 - Occasional	11
HP:0001653	HP:0001653	Mitral regurgitation	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001653	HP:0001653	Mitral regurgitation	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0001653	HP:0001653	Mitral regurgitation	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0001653	HP:0001653	Mitral regurgitation	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001653	HP:0001653	Mitral regurgitation	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0001653	HP:0001653	Mitral regurgitation	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0001653	HP:0001653	Mitral regurgitation	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0001653	HP:0001653	Mitral regurgitation	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001653	HP:0001653	Mitral regurgitation	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	180
HP:0001653	HP:0001653	Mitral regurgitation	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	248
HP:0001653	HP:0001653	Mitral regurgitation	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y	HP:0040284 - Very rare	230
HP:0001653	HP:0001653	Mitral regurgitation	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0001653	HP:0001653	Mitral regurgitation	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0001653	HP:0001653	Mitral regurgitation	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001653	HP:0001653	Mitral regurgitation	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0001653	HP:0001653	Mitral regurgitation	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001653	HP:0001653	Mitral regurgitation	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83

Genes (154) :ABCC6 ABCG5 ABCG8 ACTC1 ADAMTS10 AGA AIP AKT3 ALDH18A1 ALPK3 ANKRD11 APOB ARSB B3GALT6 BANF1 BAZ1B BCL7B BGN BUD23 C4A CBL CCND2 CCR1 CHST14 CHST3 CITED2 CLIC2 CLIP2 COL1A1 COL1A2 COL5A1 COL5A2 COX7B CRYAB CTCF DCHS1 DNAJC30 DNMT3A DOHH DSE DTNA DZIP1 EIF4H ELN ERAP1 EXOSC5 FAR1 FAS FBLN5 FBN1 FBN2 FHL1 FKBP14 FKBP6 FLNA FLNC G6PC3 GATA4 GATA6 GBA1 GLA GNPTAB GNS GPR101 GTF2I GTF2IRD1 GTF2IRD2 HADHA HADHB HCCS HEPHL1 HEXB HLA-B IDUA IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6ST IRX5 KIF20A KLRC4 LDLR LDLRAP1 LIMK1 LMNA LMOD2 LOX LTBP2 LZTR1 MAN2B1 MAP3K7 MAPK1 MEFV METTL27 MLXIPL MTX2 MYH6 MYH7 MYL2 MYPN NCF1 NDUFAF3 NDUFB11 NDUFB8 NDUFS2 NF1 NKAP NKX2-5 PCSK9 PDSS1 PIK3R2 PKD1 PLD1 POLG PPP1CB PRDM16 PRG4 PYROXD1 RAF1 RFC2 RIT1 RPL3L RPL5 RPS6KA3 RSPRY1 SCO2 SDHD SGO1 SKI SLC22A5 SMAD3 SMAD4 SOX5 STAT4 STX1A SURF1 TBL2 TBX20 TGFB3 TLL1 TLR4 TLR7 TMEM270 TNNI3 TNNT2 TPM1 TWNK TXNDC15 UBAC2 VPS33A VPS37D ZMPSTE24

Diseases (112) :OMIM:614473 ORPHA:391665 ORPHA:99103 ORPHA:3449 OMIM:277600 OMIM:208400 ORPHA:963 ORPHA:83473 ORPHA:90348 ORPHA:447753 OMIM:618052 ORPHA:261250 OMIM:253200 OMIM:271640 OMIM:614008 ORPHA:904 OMIM:300989 ORPHA:117 OMIM:613563 OMIM:601776 OMIM:143095 ORPHA:324410 ORPHA:287 ORPHA:230851 OMIM:225320 ORPHA:2556 OMIM:615184 ORPHA:363611 OMIM:607829 ORPHA:404443 OMIM:615879 OMIM:620066 OMIM:615539 OMIM:604169 OMIM:610840 OMIM:123700 OMIM:194050 OMIM:619576 OMIM:614434 OMIM:614185 OMIM:154700 ORPHA:284979 ORPHA:2462 OMIM:608328 OMIM:121050 OMIM:300280 OMIM:614557 OMIM:314400 ORPHA:555877 ORPHA:88630 OMIM:617047 ORPHA:75249 OMIM:612541 OMIM:607941 OMIM:230800 ORPHA:324 OMIM:252500 ORPHA:576 OMIM:252940 ORPHA:746 OMIM:261990 ORPHA:309155 OMIM:607014 OMIM:607015 OMIM:619750 OMIM:611174 ORPHA:740 ORPHA:363618 OMIM:212112 OMIM:619897 OMIM:617168 OMIM:616564 ORPHA:309282 ORPHA:3238 OMIM:157800 OMIM:619087 OMIM:619127 OMIM:613426 OMIM:619424 OMIM:615248 ORPHA:70474 ORPHA:363700 OMIM:301039 OMIM:614651 OMIM:603387 OMIM:173900 OMIM:212093 OMIM:258450 OMIM:607459 OMIM:617506 OMIM:615373 ORPHA:2848 OMIM:617258 OMIM:615916 OMIM:615355 OMIM:619371 OMIM:612561 OMIM:303600 ORPHA:457395 OMIM:619167 OMIM:616201 OMIM:212140 ORPHA:284984 OMIM:613795 OMIM:175050 ORPHA:313892 OMIM:615582 ORPHA:99106 OMIM:301080 OMIM:611878 OMIM:619879 ORPHA:505248

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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