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 cardiac septum morphology (HP:0001671)

Grandparent Node:
Abnormal cardiac ventricle morphology (HP:0001713)

Parent Node:
Abnormal ventricular septum morphology (HP:0010438)

..Starting node
..Ventricular septal defect (HP:0001629)

Term ID:

1629

Name:

Ventricular septal defect

Synonym:

Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD

Definition:

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

Comments:

Reference:

HP:0001629

Genes and Diseases:

Child Nodes:

........

Gerbode ventricular septal defect (HP:0011621)

........

Inlet ventricular septal defect (HP:0011622)

........

Muscular ventricular septal defect (HP:0011623)

................... HP:0011624 Apical muscular ventricular septal defect
................... HP:0011625 Multiple muscular ventricular septal defects

........

Subarterial ventricular septal defect (HP:0011681)

........

Perimembranous ventricular septal defect (HP:0011682)

........

Restrictive ventricular septal defect (HP:0011683)

........

Non-restrictive ventricular septal defect (HP:0011684)

Sister Nodes:

Ventricular septal aneurysm (HP:0030957)

Ventricular septal hypertrophy (HP:0005144)

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:0001629	HP:0001629	Ventricular septal defect	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0001629	HP:0001629	Ventricular septal defect	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0001629	HP:0001629	Ventricular septal defect	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	.	161
HP:0001629	HP:0001629	Ventricular septal defect	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001629	HP:0001629	Ventricular septal defect	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	63
HP:0001629	HP:0001629	Ventricular septal defect	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0001629	HP:0001629	Ventricular septal defect	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0001629	HP:0001629	Ventricular septal defect	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040282 - Frequent	6
HP:0001629	HP:0001629	Ventricular septal defect	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent	19
HP:0001629	HP:0001629	Ventricular septal defect	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001629	HP:0001629	Ventricular septal defect	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001629	HP:0001629	Ventricular septal defect	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001629	HP:0001629	Ventricular septal defect	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0001629	HP:0001629	Ventricular septal defect	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	HP:0040284 - Very rare
HP:0001629	HP:0001629	Ventricular septal defect	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0001629	HP:0001629	Ventricular septal defect	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0001629	HP:0001629	Ventricular septal defect	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0001629	HP:0001629	Ventricular septal defect	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0001629	HP:0001629	Ventricular septal defect	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0001629	HP:0001629	Ventricular septal defect	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0001629	HP:0001629	Ventricular septal defect	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001629	HP:0001629	Ventricular septal defect	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0001629	HP:0001629	Ventricular septal defect	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0001629	HP:0001629	Ventricular septal defect	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0001629	HP:0001629	Ventricular septal defect	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0001629	HP:0001629	Ventricular septal defect	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040283 - Occasional	166
HP:0001629	HP:0001629	Ventricular septal defect	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0001629	HP:0001629	Ventricular septal defect	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0001629	HP:0001629	Ventricular septal defect	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0001629	HP:0001629	Ventricular septal defect	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0001629	HP:0001629	Ventricular septal defect	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0001629	HP:0001629	Ventricular septal defect	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001629	HP:0001629	Ventricular septal defect	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0001629	HP:0001629	Ventricular septal defect	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001629	HP:0001629	Ventricular septal defect	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0001629	HP:0001629	Ventricular septal defect	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0001629	HP:0001629	Ventricular septal defect	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0001629	HP:0001629	Ventricular septal defect	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0001629	HP:0001629	Ventricular septal defect	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0001629	HP:0001629	Ventricular septal defect	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0001629	HP:0001629	Ventricular septal defect	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0001629	HP:0001629	Ventricular septal defect	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional	572
HP:0001629	HP:0001629	Ventricular septal defect	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0001629	HP:0001629	Ventricular septal defect	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040283 - Occasional	51
HP:0001629	HP:0001629	Ventricular septal defect	0	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0001629	HP:0001629	Ventricular septal defect	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0001629	HP:0001629	Ventricular septal defect	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	85
HP:0001629	HP:0001629	Ventricular septal defect	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0001629	HP:0001629	Ventricular septal defect	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0001629	HP:0001629	Ventricular septal defect	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0001629	HP:0001629	Ventricular septal defect	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0001629	HP:0001629	Ventricular septal defect	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0001629	HP:0001629	Ventricular septal defect	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0001629	HP:0001629	Ventricular septal defect	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent	11
HP:0001629	HP:0001629	Ventricular septal defect	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0001629	HP:0001629	Ventricular septal defect	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0001629	HP:0001629	Ventricular septal defect	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0001629	HP:0001629	Ventricular septal defect	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001629	HP:0001629	Ventricular septal defect	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0001629	HP:0001629	Ventricular septal defect	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0001629	HP:0001629	Ventricular septal defect	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001629	HP:0001629	Ventricular septal defect	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0001629	HP:0001629	Ventricular septal defect	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0001629	HP:0001629	Ventricular septal defect	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0001629	HP:0001629	Ventricular septal defect	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional	4
HP:0001629	HP:0001629	Ventricular septal defect	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0001629	HP:0001629	Ventricular septal defect	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001629	HP:0001629	Ventricular septal defect	0	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2		5
HP:0001629	HP:0001629	Ventricular septal defect	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040283 - Occasional	7
HP:0001629	HP:0001629	Ventricular septal defect	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0001629	HP:0001629	Ventricular septal defect	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0001629	HP:0001629	Ventricular septal defect	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0001629	HP:0001629	Ventricular septal defect	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7		24
HP:0001629	HP:0001629	Ventricular septal defect	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0001629	HP:0001629	Ventricular septal defect	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0001629	HP:0001629	Ventricular septal defect	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0001629	HP:0001629	Ventricular septal defect	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	HP:0040283 - Occasional	12
HP:0001629	HP:0001629	Ventricular septal defect	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001629	HP:0001629	Ventricular septal defect	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0001629	HP:0001629	Ventricular septal defect	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0001629	HP:0001629	Ventricular septal defect	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0001629	HP:0001629	Ventricular septal defect	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001629	HP:0001629	Ventricular septal defect	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0001629	HP:0001629	Ventricular septal defect	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0001629	HP:0001629	Ventricular septal defect	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0001629	HP:0001629	Ventricular septal defect	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0001629	HP:0001629	Ventricular septal defect	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0001629	HP:0001629	Ventricular septal defect	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0001629	HP:0001629	Ventricular septal defect	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0001629	HP:0001629	Ventricular septal defect	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001629	HP:0001629	Ventricular septal defect	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001629	HP:0001629	Ventricular septal defect	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001629	HP:0001629	Ventricular septal defect	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0001629	HP:0001629	Ventricular septal defect	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001629	HP:0001629	Ventricular septal defect	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.	9
HP:0001629	HP:0001629	Ventricular septal defect	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0001629	HP:0001629	Ventricular septal defect	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0001629	HP:0001629	Ventricular septal defect	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0001629	HP:0001629	Ventricular septal defect	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001629	HP:0001629	Ventricular septal defect	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001629	HP:0001629	Ventricular septal defect	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0001629	HP:0001629	Ventricular septal defect	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001629	HP:0001629	Ventricular septal defect	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001629	HP:0001629	Ventricular septal defect	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	HP:0040283 - Occasional	16
HP:0001629	HP:0001629	Ventricular septal defect	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0001629	HP:0001629	Ventricular septal defect	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.	163
HP:0001629	HP:0001629	Ventricular septal defect	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0001629	HP:0001629	Ventricular septal defect	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0001629	HP:0001629	Ventricular septal defect	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0001629	HP:0001629	Ventricular septal defect	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0001629	HP:0001629	Ventricular septal defect	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0001629	HP:0001629	Ventricular septal defect	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0001629	HP:0001629	Ventricular septal defect	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0001629	HP:0001629	Ventricular septal defect	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	HP:0040283 - Occasional	33
HP:0001629	HP:0001629	Ventricular septal defect	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	HP:0040283 - Occasional	48
HP:0001629	HP:0001629	Ventricular septal defect	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0001629	HP:0001629	Ventricular septal defect	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001629	HP:0001629	Ventricular septal defect	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001629	HP:0001629	Ventricular septal defect	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0001629	HP:0001629	Ventricular septal defect	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001629	HP:0001629	Ventricular septal defect	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0001629	HP:0001629	Ventricular septal defect	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	HP:0040283 - Occasional	12
HP:0001629	HP:0001629	Ventricular septal defect	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001629	HP:0001629	Ventricular septal defect	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001629	HP:0001629	Ventricular septal defect	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0001629	HP:0001629	Ventricular septal defect	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001629	HP:0001629	Ventricular septal defect	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0001629	HP:0001629	Ventricular septal defect	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0001629	HP:0001629	Ventricular septal defect	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0001629	HP:0001629	Ventricular septal defect	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.	102
HP:0001629	HP:0001629	Ventricular septal defect	0	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency	HP:0040283 - Occasional	3
HP:0001629	HP:0001629	Ventricular septal defect	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0001629	HP:0001629	Ventricular septal defect	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0001629	HP:0001629	Ventricular septal defect	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001629	HP:0001629	Ventricular septal defect	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0001629	HP:0001629	Ventricular septal defect	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	1361
HP:0001629	HP:0001629	Ventricular septal defect	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0001629	HP:0001629	Ventricular septal defect	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0001629	HP:0001629	Ventricular septal defect	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0001629	HP:0001629	Ventricular septal defect	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0001629	HP:0001629	Ventricular septal defect	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0001629	HP:0001629	Ventricular septal defect	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0001629	HP:0001629	Ventricular septal defect	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	HP:0040283 - Occasional	2
HP:0001629	HP:0001629	Ventricular septal defect	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0001629	HP:0001629	Ventricular septal defect	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0001629	HP:0001629	Ventricular septal defect	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0001629	HP:0001629	Ventricular septal defect	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0001629	HP:0001629	Ventricular septal defect	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001629	HP:0001629	Ventricular septal defect	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0001629	HP:0001629	Ventricular septal defect	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001629	HP:0001629	Ventricular septal defect	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0001629	HP:0001629	Ventricular septal defect	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0001629	HP:0001629	Ventricular septal defect	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0001629	HP:0001629	Ventricular septal defect	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0001629	HP:0001629	Ventricular septal defect	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001629	HP:0001629	Ventricular septal defect	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2	HP:0040283 - Occasional	87
HP:0001629	HP:0001629	Ventricular septal defect	0	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1	.	87
HP:0001629	HP:0001629	Ventricular septal defect	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0001629	HP:0001629	Ventricular septal defect	0	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5		37
HP:0001629	HP:0001629	Ventricular septal defect	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0001629	HP:0001629	Ventricular septal defect	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent	37
HP:0001629	HP:0001629	Ventricular septal defect	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0001629	HP:0001629	Ventricular septal defect	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.	28
HP:0001629	HP:0001629	Ventricular septal defect	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	7
HP:0001629	HP:0001629	Ventricular septal defect	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	64
HP:0001629	HP:0001629	Ventricular septal defect	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0001629	HP:0001629	Ventricular septal defect	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0001629	HP:0001629	Ventricular septal defect	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0001629	HP:0001629	Ventricular septal defect	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0001629	HP:0001629	Ventricular septal defect	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0001629	HP:0001629	Ventricular septal defect	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0001629	HP:0001629	Ventricular septal defect	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0001629	HP:0001629	Ventricular septal defect	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0001629	HP:0001629	Ventricular septal defect	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001629	HP:0001629	Ventricular septal defect	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0001629	HP:0001629	Ventricular septal defect	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0001629	HP:0001629	Ventricular septal defect	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001629	HP:0001629	Ventricular septal defect	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0001629	HP:0001629	Ventricular septal defect	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001629	HP:0001629	Ventricular septal defect	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0001629	HP:0001629	Ventricular septal defect	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0001629	HP:0001629	Ventricular septal defect	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0001629	HP:0001629	Ventricular septal defect	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001629	HP:0001629	Ventricular septal defect	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001629	HP:0001629	Ventricular septal defect	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0001629	HP:0001629	Ventricular septal defect	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0001629	HP:0001629	Ventricular septal defect	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0001629	HP:0001629	Ventricular septal defect	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0001629	HP:0001629	Ventricular septal defect	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0001629	HP:0001629	Ventricular septal defect	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001629	HP:0001629	Ventricular septal defect	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional	11
HP:0001629	HP:0001629	Ventricular septal defect	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001629	HP:0001629	Ventricular septal defect	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent	113
HP:0001629	HP:0001629	Ventricular septal defect	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0001629	HP:0001629	Ventricular septal defect	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001629	HP:0001629	Ventricular septal defect	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001629	HP:0001629	Ventricular septal defect	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional	48
HP:0001629	HP:0001629	Ventricular septal defect	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0001629	HP:0001629	Ventricular septal defect	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040282 - Frequent	5
HP:0001629	HP:0001629	Ventricular septal defect	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0001629	HP:0001629	Ventricular septal defect	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0001629	HP:0001629	Ventricular septal defect	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0001629	HP:0001629	Ventricular septal defect	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001629	HP:0001629	Ventricular septal defect	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0001629	HP:0001629	Ventricular septal defect	0	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0001629	HP:0001629	Ventricular septal defect	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts		4
HP:0001629	HP:0001629	Ventricular septal defect	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0001629	HP:0001629	Ventricular septal defect	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0001629	HP:0001629	Ventricular septal defect	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0001629	HP:0001629	Ventricular septal defect	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0001629	HP:0001629	Ventricular septal defect	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0001629	HP:0001629	Ventricular septal defect	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.	34
HP:0001629	HP:0001629	Ventricular septal defect	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent	34
HP:0001629	HP:0001629	Ventricular septal defect	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0001629	HP:0001629	Ventricular septal defect	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0001629	HP:0001629	Ventricular septal defect	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001629	HP:0001629	Ventricular septal defect	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0001629	HP:0001629	Ventricular septal defect	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001629	HP:0001629	Ventricular septal defect	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0001629	HP:0001629	Ventricular septal defect	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0001629	HP:0001629	Ventricular septal defect	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001629	HP:0001629	Ventricular septal defect	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.	54
HP:0001629	HP:0001629	Ventricular septal defect	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001629	HP:0001629	Ventricular septal defect	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0001629	HP:0001629	Ventricular septal defect	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0001629	HP:0001629	Ventricular septal defect	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0001629	HP:0001629	Ventricular septal defect	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040283 - Occasional	8
HP:0001629	HP:0001629	Ventricular septal defect	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0001629	HP:0001629	Ventricular septal defect	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040283 - Occasional	289
HP:0001629	HP:0001629	Ventricular septal defect	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0001629	HP:0001629	Ventricular septal defect	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0001629	HP:0001629	Ventricular septal defect	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	123
HP:0001629	HP:0001629	Ventricular septal defect	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001629	HP:0001629	Ventricular septal defect	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0001629	HP:0001629	Ventricular septal defect	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0001629	HP:0001629	Ventricular septal defect	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0001629	HP:0001629	Ventricular septal defect	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0001629	HP:0001629	Ventricular septal defect	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0001629	HP:0001629	Ventricular septal defect	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0001629	HP:0001629	Ventricular septal defect	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0001629	HP:0001629	Ventricular septal defect	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001629	HP:0001629	Ventricular septal defect	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0001629	HP:0001629	Ventricular septal defect	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0001629	HP:0001629	Ventricular septal defect	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0001629	HP:0001629	Ventricular septal defect	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0001629	HP:0001629	Ventricular septal defect	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0001629	HP:0001629	Ventricular septal defect	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0001629	HP:0001629	Ventricular septal defect	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	5
HP:0001629	HP:0001629	Ventricular septal defect	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0001629	HP:0001629	Ventricular septal defect	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0001629	HP:0001629	Ventricular septal defect	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0001629	HP:0001629	Ventricular septal defect	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0001629	HP:0001629	Ventricular septal defect	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0001629	HP:0001629	Ventricular septal defect	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001629	HP:0001629	Ventricular septal defect	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0001629	HP:0001629	Ventricular septal defect	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0001629	HP:0001629	Ventricular septal defect	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0001629	HP:0001629	Ventricular septal defect	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001629	HP:0001629	Ventricular septal defect	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0001629	HP:0001629	Ventricular septal defect	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0001629	HP:0001629	Ventricular septal defect	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001629	HP:0001629	Ventricular septal defect	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0001629	HP:0001629	Ventricular septal defect	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional	29
HP:0001629	HP:0001629	Ventricular septal defect	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0001629	HP:0001629	Ventricular septal defect	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0001629	HP:0001629	Ventricular septal defect	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0001629	HP:0001629	Ventricular septal defect	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0001629	HP:0001629	Ventricular septal defect	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001629	HP:0001629	Ventricular septal defect	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0001629	HP:0001629	Ventricular septal defect	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0001629	HP:0001629	Ventricular septal defect	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0001629	HP:0001629	Ventricular septal defect	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0001629	HP:0001629	Ventricular septal defect	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001629	HP:0001629	Ventricular septal defect	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0001629	HP:0001629	Ventricular septal defect	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001629	HP:0001629	Ventricular septal defect	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0001629	HP:0001629	Ventricular septal defect	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.	9
HP:0001629	HP:0001629	Ventricular septal defect	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0001629	HP:0001629	Ventricular septal defect	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0001629	HP:0001629	Ventricular septal defect	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:0001629	HP:0001629	Ventricular septal defect	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0001629	HP:0001629	Ventricular septal defect	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0001629	HP:0001629	Ventricular septal defect	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	117
HP:0001629	HP:0001629	Ventricular septal defect	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	1
HP:0001629	HP:0001629	Ventricular septal defect	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0001629	HP:0001629	Ventricular septal defect	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0001629	HP:0001629	Ventricular septal defect	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001629	HP:0001629	Ventricular septal defect	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0001629	HP:0001629	Ventricular septal defect	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0001629	HP:0001629	Ventricular septal defect	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional	90
HP:0001629	HP:0001629	Ventricular septal defect	0	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.	90
HP:0001629	HP:0001629	Ventricular septal defect	0	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3	.	90
HP:0001629	HP:0001629	Ventricular septal defect	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent	3
HP:0001629	HP:0001629	Ventricular septal defect	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0001629	HP:0001629	Ventricular septal defect	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0001629	HP:0001629	Ventricular septal defect	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001629	HP:0001629	Ventricular septal defect	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare	452
HP:0001629	HP:0001629	Ventricular septal defect	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0001629	HP:0001629	Ventricular septal defect	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0001629	HP:0001629	Ventricular septal defect	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0001629	HP:0001629	Ventricular septal defect	0	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.	13
HP:0001629	HP:0001629	Ventricular septal defect	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0001629	HP:0001629	Ventricular septal defect	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001629	HP:0001629	Ventricular septal defect	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0001629	HP:0001629	Ventricular septal defect	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	HP:0040284 - Very rare	5
HP:0001629	HP:0001629	Ventricular septal defect	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	HP:0040284 - Very rare	5
HP:0001629	HP:0001629	Ventricular septal defect	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0001629	HP:0001629	Ventricular septal defect	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0001629	HP:0001629	Ventricular septal defect	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0001629	HP:0001629	Ventricular septal defect	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001629	HP:0001629	Ventricular septal defect	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040283 - Occasional	4
HP:0001629	HP:0001629	Ventricular septal defect	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0001629	HP:0001629	Ventricular septal defect	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0001629	HP:0001629	Ventricular septal defect	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional	641
HP:0001629	HP:0001629	Ventricular septal defect	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.	1349
HP:0001629	HP:0001629	Ventricular septal defect	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0001629	HP:0001629	Ventricular septal defect	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0001629	HP:0001629	Ventricular septal defect	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	169
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	75
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	4
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	65
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	66
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	46
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)		59
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	59
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	62
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	82
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	106
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	47
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	99
HP:0001629	HP:0001629	Ventricular septal defect	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	98
HP:0001629	HP:0001629	Ventricular septal defect	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001629	HP:0001629	Ventricular septal defect	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001629	HP:0001629	Ventricular septal defect	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	11
HP:0001629	HP:0001629	Ventricular septal defect	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0001629	HP:0001629	Ventricular septal defect	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional	36
HP:0001629	HP:0001629	Ventricular septal defect	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0001629	HP:0001629	Ventricular septal defect	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0001629	HP:0001629	Ventricular septal defect	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0001629	HP:0001629	Ventricular septal defect	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0001629	HP:0001629	Ventricular septal defect	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0001629	HP:0001629	Ventricular septal defect	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent	12
HP:0001629	HP:0001629	Ventricular septal defect	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0001629	HP:0001629	Ventricular septal defect	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001629	HP:0001629	Ventricular septal defect	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001629	HP:0001629	Ventricular septal defect	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0001629	HP:0001629	Ventricular septal defect	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0001629	HP:0001629	Ventricular septal defect	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0001629	HP:0001629	Ventricular septal defect	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0001629	HP:0001629	Ventricular septal defect	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0001629	HP:0001629	Ventricular septal defect	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001629	HP:0001629	Ventricular septal defect	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0001629	HP:0001629	Ventricular septal defect	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0001629	HP:0001629	Ventricular septal defect	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0001629	HP:0001629	Ventricular septal defect	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0001629	HP:0001629	Ventricular septal defect	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0001629	HP:0001629	Ventricular septal defect	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0001629	HP:0001629	Ventricular septal defect	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0001629	HP:0001629	Ventricular septal defect	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0001629	HP:0001629	Ventricular septal defect	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0001629	HP:0001629	Ventricular septal defect	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0001629	HP:0001629	Ventricular septal defect	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001629	HP:0001629	Ventricular septal defect	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0001629	HP:0001629	Ventricular septal defect	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0001629	HP:0001629	Ventricular septal defect	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0001629	HP:0001629	Ventricular septal defect	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0001629	HP:0001629	Ventricular septal defect	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0001629	HP:0001629	Ventricular septal defect	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0001629	HP:0001629	Ventricular septal defect	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0001629	HP:0001629	Ventricular septal defect	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	HP:0040283 - Occasional	9
HP:0001629	HP:0001629	Ventricular septal defect	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001629	HP:0001629	Ventricular septal defect	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0001629	HP:0001629	Ventricular septal defect	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0001629	HP:0001629	Ventricular septal defect	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0001629	HP:0001629	Ventricular septal defect	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001629	HP:0001629	Ventricular septal defect	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001629	HP:0001629	Ventricular septal defect	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001629	HP:0001629	Ventricular septal defect	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0001629	HP:0001629	Ventricular septal defect	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.	120
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12	.	3
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0001629	HP:0001629	Ventricular septal defect	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.	40
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001629	HP:0001629	Ventricular septal defect	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0001629	HP:0001629	Ventricular septal defect	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0001629	HP:0001629	Ventricular septal defect	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001629	HP:0001629	Ventricular septal defect	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0001629	HP:0001629	Ventricular septal defect	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0001629	HP:0001629	Ventricular septal defect	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0001629	HP:0001629	Ventricular septal defect	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0001629	HP:0001629	Ventricular septal defect	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001629	HP:0001629	Ventricular septal defect	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0001629	HP:0001629	Ventricular septal defect	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0001629	HP:0001629	Ventricular septal defect	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0001629	HP:0001629	Ventricular septal defect	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0001629	HP:0001629	Ventricular septal defect	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001629	HP:0001629	Ventricular septal defect	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001629	HP:0001629	Ventricular septal defect	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0001629	HP:0001629	Ventricular septal defect	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0001629	HP:0001629	Ventricular septal defect	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0001629	HP:0001629	Ventricular septal defect	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	HP:0040283 - Occasional	49
HP:0001629	HP:0001629	Ventricular septal defect	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001629	HP:0001629	Ventricular septal defect	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0001629	HP:0001629	Ventricular septal defect	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001629	HP:0001629	Ventricular septal defect	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0001629	HP:0001629	Ventricular septal defect	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0001629	HP:0001629	Ventricular septal defect	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001629	HP:0001629	Ventricular septal defect	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001629	HP:0001629	Ventricular septal defect	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES		2
HP:0001629	HP:0001629	Ventricular septal defect	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040283 - Occasional	55
HP:0001629	HP:0001629	Ventricular septal defect	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.	55
HP:0001629	HP:0001629	Ventricular septal defect	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0001629	HP:0001629	Ventricular septal defect	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0001629	HP:0001629	Ventricular septal defect	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	68
HP:0001629	HP:0001629	Ventricular septal defect	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0001629	HP:0001629	Ventricular septal defect	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001629	HP:0001629	Ventricular septal defect	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0001629	HP:0001629	Ventricular septal defect	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0001629	HP:0001629	Ventricular septal defect	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0001629	HP:0001629	Ventricular septal defect	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0001629	HP:0001629	Ventricular septal defect	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0001629	HP:0001629	Ventricular septal defect	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0001629	HP:0001629	Ventricular septal defect	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0001629	HP:0001629	Ventricular septal defect	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0001629	HP:0001629	Ventricular septal defect	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0001629	HP:0001629	Ventricular septal defect	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001629	HP:0001629	Ventricular septal defect	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0001629	HP:0001629	Ventricular septal defect	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0001629	HP:0001629	Ventricular septal defect	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0001629	HP:0001629	Ventricular septal defect	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0001629	HP:0001629	Ventricular septal defect	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040283 - Occasional	6
HP:0001629	HP:0001629	Ventricular septal defect	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001629	HP:0001629	Ventricular septal defect	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001629	HP:0001629	Ventricular septal defect	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0001629	HP:0001629	Ventricular septal defect	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0001629	HP:0001629	Ventricular septal defect	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional	33
HP:0001629	HP:0001629	Ventricular septal defect	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0001629	HP:0001629	Ventricular septal defect	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	HP:0040284 - Very rare
HP:0001629	HP:0001629	Ventricular septal defect	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0001629	HP:0001629	Ventricular septal defect	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0001629	HP:0001629	Ventricular septal defect	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0001629	HP:0001629	Ventricular septal defect	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001629	HP:0001629	Ventricular septal defect	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0001629	HP:0001629	Ventricular septal defect	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0001629	HP:0001629	Ventricular septal defect	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0001629	HP:0001629	Ventricular septal defect	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0001629	HP:0001629	Ventricular septal defect	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0001629	HP:0001629	Ventricular septal defect	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001629	HP:0001629	Ventricular septal defect	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.	11
HP:0001629	HP:0001629	Ventricular septal defect	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0001629	HP:0001629	Ventricular septal defect	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0001629	HP:0001629	Ventricular septal defect	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001629	HP:0001629	Ventricular septal defect	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0001629	HP:0001629	Ventricular septal defect	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001629	HP:0001629	Ventricular septal defect	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0001629	HP:0001629	Ventricular septal defect	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional	13
HP:0001629	HP:0001629	Ventricular septal defect	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0001629	HP:0001629	Ventricular septal defect	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0001629	HP:0001629	Ventricular septal defect	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0001629	HP:0001629	Ventricular septal defect	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0001629	HP:0001629	Ventricular septal defect	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0001629	HP:0001629	Ventricular septal defect	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0001629	HP:0001629	Ventricular septal defect	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent	123
HP:0001629	HP:0001629	Ventricular septal defect	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001629	HP:0001629	Ventricular septal defect	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	82
HP:0001629	HP:0001629	Ventricular septal defect	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.	31
HP:0001629	HP:0001629	Ventricular septal defect	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001629	HP:0001629	Ventricular septal defect	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional	104
HP:0001629	HP:0001629	Ventricular septal defect	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0001629	HP:0001629	Ventricular septal defect	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent	6
HP:0001629	HP:0001629	Ventricular septal defect	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001629	HP:0001629	Ventricular septal defect	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0001629	HP:0001629	Ventricular septal defect	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0001629	HP:0001629	Ventricular septal defect	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0001629	HP:0001629	Ventricular septal defect	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.	4
HP:0001629	HP:0001629	Ventricular septal defect	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent	4
HP:0001629	HP:0001629	Ventricular septal defect	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0001629	HP:0001629	Ventricular septal defect	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001629	HP:0001629	Ventricular septal defect	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0001629	HP:0001629	Ventricular septal defect	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	72
HP:0001629	HP:0001629	Ventricular septal defect	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0001629	HP:0001629	Ventricular septal defect	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2
HP:0001629	HP:0001629	Ventricular septal defect	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0001629	HP:0001629	Ventricular septal defect	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0001629	HP:0001629	Ventricular septal defect	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0001629	HP:0001629	Ventricular septal defect	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001629	HP:0001629	Ventricular septal defect	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001629	HP:0001629	Ventricular septal defect	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	26
HP:0001629	HP:0001629	Ventricular septal defect	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional	26
HP:0001629	HP:0001629	Ventricular septal defect	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	14
HP:0001629	HP:0001629	Ventricular septal defect	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0001629	HP:0001629	Ventricular septal defect	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0001629	HP:0001629	Ventricular septal defect	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0001629	HP:0001629	Ventricular septal defect	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001629	HP:0001629	Ventricular septal defect	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0001629	HP:0001629	Ventricular septal defect	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001629	HP:0001629	Ventricular septal defect	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	HP:0040283 - Occasional	135
HP:0001629	HP:0001629	Ventricular septal defect	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001629	HP:0001629	Ventricular septal defect	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0001629	HP:0001629	Ventricular septal defect	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0001629	HP:0001629	Ventricular septal defect	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional	546
HP:0001629	HP:0001629	Ventricular septal defect	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0001629	HP:0001629	Ventricular septal defect	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001629	HP:0001629	Ventricular septal defect	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0001629	HP:0001629	Ventricular septal defect	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0001629	HP:0001629	Ventricular septal defect	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0001629	HP:0001629	Ventricular septal defect	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001629	HP:0001629	Ventricular septal defect	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0001629	HP:0001629	Ventricular septal defect	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001629	HP:0001629	Ventricular septal defect	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0001629	HP:0001629	Ventricular septal defect	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040282 - Frequent	4
HP:0001629	HP:0001629	Ventricular septal defect	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0001629	HP:0001629	Ventricular septal defect	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0001629	HP:0001629	Ventricular septal defect	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	14
HP:0001629	HP:0001629	Ventricular septal defect	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040282 - Frequent	5
HP:0001629	HP:0001629	Ventricular septal defect	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001629	HP:0001629	Ventricular septal defect	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040283 - Occasional	5
HP:0001629	HP:0001629	Ventricular septal defect	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001629	HP:0001629	Ventricular septal defect	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0001629	HP:0001629	Ventricular septal defect	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0001629	HP:0001629	Ventricular septal defect	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001629	HP:0001629	Ventricular septal defect	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001629	HP:0001629	Ventricular septal defect	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0001629	HP:0001629	Ventricular septal defect	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001629	HP:0011621	Gerbode ventricular septal defect	1	CL E G H
HP:0001629	HP:0011684	Non-restrictive ventricular septal defect	1	CL E G H
HP:0001629	HP:0011683	Restrictive ventricular septal defect	1	CL E G H
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare	68
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2	.	5
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional	25
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5	.	37
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0001629	HP:0011622	Inlet ventricular septal defect	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001629	HP:0011681	Subarterial ventricular septal defect	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001629	HP:0011682	Perimembranous ventricular septal defect	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0001629	HP:0011622	Inlet ventricular septal defect	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001629	HP:0011623	Muscular ventricular septal defect	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001629	HP:0011624	Apical muscular ventricular septal defect	2	CL E G H
HP:0001629	HP:0011625	Multiple muscular ventricular septal defects	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001629	HP:0011625	Multiple muscular ventricular septal defects	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35

Genes (490) :ABL1 ACADVL ACVR2B ADA2 ADAMTS10 AFF4 AKT3 ALDH1A2 ALG12 ALG8 ALG9 ALKBH8 AMER1 ANKRD11 APC2 ARCN1 ARHGAP31 ARID1A ARID1B ARID2 ARSL ARVCF ARX ASXL1 ATN1 ATP6V0A2 ATRX B3GALT6 B3GLCT BAP1 BAZ1B BCL7B BCOR BCR BMP2 BRAF BRD4 BRF1 BUD23 C2CD3 CACNA1C CACNA1D CALM3 CAMK2A CANT1 CARS1 CASK CCBE1 CCDC174 CCDC22 CCDC32 CCND2 CD96 CDC45 CDK13 CDK8 CDKL5 CEP290 CEP57 CHD4 CHD7 CHMP1A CHRM3 CHST3 CIROP CITED2 CKAP2L CLIP2 COG6 COMT COQ4 COX15 COX7B CPLX1 CRB2 CREBBP CRKL CSGALNACT1 CTBP1 CTU2 CWC27 CYTB DDX11 DDX59 DGCR2 DGCR6 DGCR8 DHCR7 DLK1 DLL4 DMXL2 DNAJC19 DNAJC30 DNMT3A DOHH DPF2 DPH1 DPH2 DPH5 DSG1 DST DTNA DVL3 DYNC2I1 DYNC2LI1 DYRK1A ECE1 ECHS1 EFTUD2 EIF4H ELN EOGT EP300 ERBB3 ERCC2 ERCC3 ESCO2 ESS2 EVC EVC2 EXOC2 EXT2 FADD FANCB FANCC FANCI FBN1 FBN2 FGFR1 FGFR2 FGFRL1 FIBP FIG4 FKBP6 FLI1 FLNB FOCAD FOXC2 FOXF1 FOXRED1 FTO GATA1 GATA4 GATA5 GATA6 GDF1 GDF3 GDF6 GJA1 GJA5 GJA8 GLI1 GLI3 GNAO1 GNB2 GP1BB GPC3 GPC4 GPC6 GRIN1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HCCS HDAC8 HIRA HNRNPK HNRNPR HOXA13 HRAS HYLS1 HYMAI IDH1 IFT172 IFT81 IGBP1 IGF1R INSR IPO8 JAG1 JAM3 JMJD1C KANSL1 KAT5 KAT6A KAT6B KAT8 KCNA1 KDM3B KDM6A KMT2D KRAS LARS2 LBR LETM1 LIMK1 LIPT1 LONP1 LRP2 LRP5 LTBP2 LZTR1 MACF1 MAP2K1 MAP3K7 MAPK1 MASP1 MED12 MED13L MED23 MED25 MEG3 MEIS2 MEOX1 METTL27 MGAT2 MGP MICU1 MID1 MIR17HG MKKS MLXIPL MMP14 MMP2 MPLKIP MTFMT MYBPC3 MYCN MYH7 MYOCD MYRF NAA10 NAA20 NCF1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFB11 NDUFB7 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK1 NEK9 NEUROD2 NF1 NFIX NIPA1 NIPA2 NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NODAL NONO NOTCH1 NOTCH2 NOTCH3 NR2F2 NSD1 NSD2 NUP107 NUP188 NXN ODAD3 OTUD5 OTUD6B PACS1 PAH PALB2 PDHA1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM1 PHGDH PI4KA PIEZO2 PIGL PIGP PIGQ PIK3CA PIK3R2 PKD1L1 PLAGL1 PLCH1 PLD1 PLXND1 PNKP POLA1 PORCN PPFIBP1 PPM1D PPP1CB PPP2R5D PQBP1 PRDM13 PRKACA PRKACB PSMC1 PSMD12 PTPN11 PUF60 RAB23 RAC1 RAD21 RAI1 RARB RBM8A RERE RFC2 RIT1 RNF113A RNU4ATAC ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS2 RREB1 RSPO2 RTL1 RYR1 SALL1 SALL4 SATB1 SATB2 SCN1B SCN2A SDHA SEC24C SEC31A SETD2 SETD5 SF3B2 SF3B4 SH3PXD2B SHANK3 SHOC2 SIK1 SIX6 SKIC2 SKIC3 SLC12A2 SLC19A2 SLC19A3 SLC25A22 SLC29A3 SLC37A4 SMAD2 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMN1 SNRPB SON SOS1 SOS2 SOX11 SOX2 SOX4 SPECC1L SPEN SPTBN1 STAG1 STAG2 STAMBP STRA6 STX1A SURF1 SVBP TAB2 TACO1 TALDO1 TAOK1 TAPT1 TARS1 TASP1 TBC1D24 TBCK TBL2 TBX1 TBX3 TBX5 TCIRG1 TCTN3 TET3 TFAP2B TGDS TGFB3 THOC6 TIAM1 TKT TMEM260 TMEM270 TMEM53 TMEM94 TNFRSF11A TP63 TRAIP TRIM8 TRIO TRRAP TSR2 TTC26 TTC7A TUBG1 TXNL4A UBE2A UBE3B UBR1 UBR7 UFD1 UMPS UQCRFS1 VAC14 VIPAS39 VPS13B VPS33B VPS37D WAC WASHC5 WBP11 WDR26 WDR37 WNT4 WT1 XYLT1 XYLT2 YARS1 YY1AP1 ZBTB7A ZEB2 ZIC3 ZMYM2 ZNF462 ZNF699

Diseases (424) :OMIM:617602 ORPHA:26793 OMIM:613751 ORPHA:124 ORPHA:3449 OMIM:277600 OMIM:616368 ORPHA:444077 ORPHA:83473 OMIM:620025 ORPHA:79324 OMIM:608104 ORPHA:79328 OMIM:618504 OMIM:300373 ORPHA:261250 ORPHA:821 OMIM:617164 OMIM:100300 ORPHA:1465 OMIM:135900 ORPHA:79345 ORPHA:567 ORPHA:1934 ORPHA:452 OMIM:605039 OMIM:618494 OMIM:278250 OMIM:301040 OMIM:271640 OMIM:261540 OMIM:619762 ORPHA:904 OMIM:300166 ORPHA:261330 OMIM:617877 OMIM:163950 ORPHA:199 ORPHA:444072 OMIM:616202 ORPHA:434179 OMIM:615948 OMIM:601005 OMIM:615474 ORPHA:369929 OMIM:618782 OMIM:617798 ORPHA:1425 ORPHA:33364 OMIM:235510 OMIM:616816 ORPHA:7 OMIM:300963 OMIM:619123 OMIM:211750 OMIM:617063 OMIM:617360 OMIM:618748 OMIM:611134 OMIM:614114 OMIM:617159 OMIM:214800 OMIM:614961 ORPHA:2970 OMIM:143095 OMIM:619702 OMIM:614431 ORPHA:3255 OMIM:272440 OMIM:614576 OMIM:616276 ORPHA:255241 OMIM:309801 OMIM:194190 OMIM:219730 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:618870 OMIM:618142 ORPHA:166035 OMIM:250410 ORPHA:137675 OMIM:613398 OMIM:174300 OMIM:192430 ORPHA:818 OMIM:270400 ORPHA:254534 ORPHA:96334 OMIM:616589 ORPHA:66634 OMIM:615879 OMIM:620066 OMIM:618027 OMIM:616901 OMIM:620062 OMIM:620070 OMIM:615508 OMIM:614653 OMIM:604169 OMIM:616894 OMIM:615503 ORPHA:289 ORPHA:268261 ORPHA:464311 OMIM:613870 OMIM:616277 OMIM:610536 OMIM:123700 OMIM:194050 OMIM:615297 ORPHA:353284 OMIM:607598 OMIM:268300 OMIM:619306 OMIM:616682 ORPHA:306550 OMIM:613759 OMIM:300514 OMIM:227645 OMIM:609053 OMIM:608328 OMIM:121050 OMIM:613001 OMIM:101200 ORPHA:500095 OMIM:617107 OMIM:216340 ORPHA:3472 ORPHA:2308 OMIM:150250 OMIM:619991 OMIM:153400 OMIM:265380 ORPHA:210122 OMIM:612938 OMIM:190685 OMIM:607941 OMIM:614429 OMIM:617912 OMIM:614474 OMIM:600001 ORPHA:2255 OMIM:613854 OMIM:208530 ORPHA:2345 OMIM:600309 ORPHA:2710 OMIM:612474 ORPHA:672 OMIM:146510 OMIM:619503 ORPHA:373 OMIM:312870 OMIM:258315 ORPHA:352665 ORPHA:453504 OMIM:620073 ORPHA:2438 OMIM:218040 ORPHA:3071 OMIM:236680 ORPHA:96191 ORPHA:99646 OMIM:615630 OMIM:617895 ORPHA:52055 OMIM:300472 OMIM:270450 ORPHA:769 OMIM:619472 OMIM:118450 OMIM:617992 OMIM:613730 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:606170 OMIM:618974 OMIM:618846 OMIM:147920 OMIM:609942 OMIM:617021 OMIM:169400 OMIM:600373 ORPHA:1458 ORPHA:79243 ORPHA:2143 OMIM:222448 OMIM:259770 OMIM:616564 OMIM:605275 OMIM:618325 OMIM:615279 OMIM:157800 OMIM:257920 OMIM:301068 OMIM:309520 ORPHA:369891 OMIM:614249 ORPHA:464738 ORPHA:261190 OMIM:600987 OMIM:214300 OMIM:212066 ORPHA:79329 ORPHA:85202 OMIM:245150 OMIM:615673 ORPHA:2745 OMIM:300000 ORPHA:391646 ORPHA:2473 ORPHA:371428 OMIM:234050 OMIM:614947 OMIM:115197 OMIM:164280 ORPHA:391641 OMIM:613426 OMIM:618719 OMIM:618280 OMIM:300855 ORPHA:276432 OMIM:619717 OMIM:620135 OMIM:619170 OMIM:263520 OMIM:614262 OMIM:617022 ORPHA:363700 ORPHA:447980 OMIM:602535 ORPHA:261183 OMIM:122470 OMIM:301039 ORPHA:209905 OMIM:610978 OMIM:108900 OMIM:614435 OMIM:614432 ORPHA:3384 OMIM:270100 ORPHA:466791 OMIM:300967 OMIM:109730 ORPHA:955 ORPHA:2789 OMIM:618901 OMIM:615779 OMIM:117550 OMIM:618348 OMIM:616730 OMIM:618804 ORPHA:1507 OMIM:616037 OMIM:301056 ORPHA:505237 OMIM:617452 ORPHA:329224 ORPHA:2209 OMIM:610832 OMIM:214100 ORPHA:912 OMIM:614876 OMIM:614921 OMIM:256520 ORPHA:436252 ORPHA:2461 ORPHA:3474 OMIM:280000 OMIM:602501 OMIM:603387 OMIM:617205 OMIM:619895 OMIM:212093 OMIM:301030 ORPHA:2092 OMIM:620024 OMIM:617450 OMIM:617506 ORPHA:457279 OMIM:309500 OMIM:619909 OMIM:620071 OMIM:617516 ORPHA:508488 ORPHA:508498 OMIM:201000 OMIM:617751 ORPHA:500159 OMIM:611376 ORPHA:477817 OMIM:615524 OMIM:274000 OMIM:616975 ORPHA:494344 OMIM:615355 OMIM:210710 OMIM:616651 OMIM:113000 OMIM:300998 ORPHA:459070 OMIM:612562 OMIM:615550 OMIM:612528 OMIM:619371 OMIM:612561 OMIM:105650 OMIM:613309 OMIM:618624 OMIM:618021 OMIM:619542 OMIM:107480 OMIM:607323 OMIM:619229 ORPHA:251028 OMIM:618651 ORPHA:404440 OMIM:164210 OMIM:154400 OMIM:249420 OMIM:606232 OMIM:607721 OMIM:206900 ORPHA:84064 OMIM:222470 OMIM:619083 ORPHA:49827 OMIM:249270 ORPHA:1782 OMIM:602782 OMIM:619525 OMIM:619657 OMIM:139210 OMIM:301044 OMIM:610759 OMIM:619268 OMIM:619995 OMIM:616920 OMIM:253300 OMIM:117650 ORPHA:1393 OMIM:617140 OMIM:610733 OMIM:616559 ORPHA:77298 OMIM:618506 OMIM:145420 ORPHA:1519 OMIM:619312 OMIM:619475 OMIM:617635 OMIM:301043 OMIM:614261 OMIM:601186 OMIM:618569 OMIM:614980 OMIM:606003 OMIM:619575 OMIM:616897 OMIM:618950 OMIM:220500 ORPHA:488632 ORPHA:1727 OMIM:188400 OMIM:181450 ORPHA:3138 ORPHA:392 OMIM:142900 OMIM:614815 OMIM:618798 ORPHA:46627 OMIM:616145 ORPHA:1388 OMIM:615582 OMIM:613680 ORPHA:363444 OMIM:619908 OMIM:617044 ORPHA:488618 OMIM:617478 OMIM:619727 OMIM:618316 OMIM:106260 OMIM:616777 OMIM:617061 OMIM:618454 OMIM:619534 OMIM:243150 OMIM:608572 ORPHA:163956 OMIM:244450 OMIM:243800 OMIM:619189 OMIM:258900 OMIM:618775 OMIM:613404 ORPHA:193 OMIM:208085 ORPHA:284169 OMIM:220210 OMIM:619227 ORPHA:513456 OMIM:618652 OMIM:611812 ORPHA:139466 ORPHA:3097 OMIM:608978 ORPHA:85194 OMIM:619418 ORPHA:79094 OMIM:619769 OMIM:235730 ORPHA:261552 OMIM:306955 OMIM:619522 OMIM:618619 OMIM:619488

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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