Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001631	HP:0001631	Atrial septal defect	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0001631	HP:0001631	Atrial septal defect	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0001631	HP:0001631	Atrial septal defect	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0001631	HP:0001631	Atrial septal defect	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0001631	HP:0001631	Atrial septal defect	0	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5	.	208
HP:0001631	HP:0001631	Atrial septal defect	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0001631	HP:0001631	Atrial septal defect	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001631	HP:0001631	Atrial septal defect	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0001631	HP:0001631	Atrial septal defect	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	HP:0040283 - Occasional	26
HP:0001631	HP:0001631	Atrial septal defect	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0001631	HP:0001631	Atrial 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		6
HP:0001631	HP:0001631	Atrial septal defect	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001631	HP:0001631	Atrial septal defect	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0001631	HP:0001631	Atrial septal defect	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001631	HP:0001631	Atrial septal defect	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0001631	HP:0001631	Atrial septal defect	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0001631	HP:0001631	Atrial septal defect	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0001631	HP:0001631	Atrial septal defect	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0001631	HP:0001631	Atrial septal defect	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001631	HP:0001631	Atrial septal defect	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0001631	HP:0001631	Atrial septal defect	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0001631	HP:0001631	Atrial septal defect	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0001631	HP:0001631	Atrial septal defect	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0001631	HP:0001631	Atrial septal defect	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001631	HP:0001631	Atrial septal defect	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0001631	HP:0001631	Atrial septal defect	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0001631	HP:0001631	Atrial septal defect	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0001631	HP:0001631	Atrial septal defect	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0001631	HP:0001631	Atrial septal defect	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0001631	HP:0001631	Atrial septal defect	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0001631	HP:0001631	Atrial septal defect	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0001631	HP:0001631	Atrial septal defect	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0001631	HP:0001631	Atrial septal defect	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0001631	HP:0001631	Atrial septal defect	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001631	HP:0001631	Atrial septal defect	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0001631	HP:0001631	Atrial septal defect	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0001631	HP:0001631	Atrial septal defect	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0001631	HP:0001631	Atrial septal defect	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001631	HP:0001631	Atrial septal defect	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2	HP:0040283 - Occasional	97
HP:0001631	HP:0001631	Atrial septal defect	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001631	HP:0001631	Atrial septal defect	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0001631	HP:0001631	Atrial septal defect	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0001631	HP:0001631	Atrial septal defect	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional	13
HP:0001631	HP:0001631	Atrial septal defect	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0001631	HP:0001631	Atrial septal defect	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0001631	HP:0001631	Atrial septal defect	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0001631	HP:0001631	Atrial septal defect	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001631	HP:0001631	Atrial septal defect	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0001631	HP:0001631	Atrial septal defect	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001631	HP:0001631	Atrial septal defect	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001631	HP:0001631	Atrial septal defect	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001631	HP:0001631	Atrial septal defect	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0001631	HP:0001631	Atrial septal defect	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0001631	HP:0001631	Atrial septal defect	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0001631	HP:0001631	Atrial septal defect	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0001631	HP:0001631	Atrial septal defect	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome		572
HP:0001631	HP:0001631	Atrial septal defect	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0001631	HP:0001631	Atrial septal defect	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001631	HP:0001631	Atrial septal defect	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0001631	HP:0001631	Atrial septal defect	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0001631	HP:0001631	Atrial septal defect	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0001631	HP:0001631	Atrial septal defect	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001631	HP:0001631	Atrial septal defect	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0001631	HP:0001631	Atrial septal defect	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	HP:0040284 - Very rare	2
HP:0001631	HP:0001631	Atrial septal defect	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0001631	HP:0001631	Atrial septal defect	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001631	HP:0001631	Atrial septal defect	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0001631	HP:0001631	Atrial septal defect	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0001631	HP:0001631	Atrial septal defect	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001631	HP:0001631	Atrial septal defect	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001631	HP:0001631	Atrial septal defect	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0001631	HP:0001631	Atrial septal defect	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0001631	HP:0001631	Atrial septal defect	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0001631	HP:0001631	Atrial septal defect	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional	4
HP:0001631	HP:0001631	Atrial septal defect	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0001631	HP:0001631	Atrial septal defect	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0001631	HP:0001631	Atrial septal defect	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001631	HP:0001631	Atrial septal defect	0	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0001631	HP:0001631	Atrial septal defect	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0001631	HP:0001631	Atrial septal defect	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0001631	HP:0001631	Atrial septal defect	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0001631	HP:0001631	Atrial septal defect	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0001631	HP:0001631	Atrial septal defect	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0001631	HP:0001631	Atrial septal defect	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0001631	HP:0001631	Atrial septal defect	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0001631	HP:0001631	Atrial septal defect	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0001631	HP:0001631	Atrial septal defect	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001631	HP:0001631	Atrial septal defect	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001631	HP:0001631	Atrial septal defect	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0001631	HP:0001631	Atrial septal defect	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0001631	HP:0001631	Atrial septal defect	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001631	HP:0001631	Atrial septal defect	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001631	HP:0001631	Atrial septal defect	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0001631	HP:0001631	Atrial septal defect	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0001631	HP:0001631	Atrial septal defect	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0001631	HP:0001631	Atrial septal defect	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0001631	HP:0001631	Atrial septal defect	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0001631	HP:0001631	Atrial septal defect	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0001631	HP:0001631	Atrial septal defect	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001631	HP:0001631	Atrial septal defect	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001631	HP:0001631	Atrial septal defect	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001631	HP:0001631	Atrial septal defect	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0001631	HP:0001631	Atrial septal defect	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0001631	HP:0001631	Atrial septal defect	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001631	HP:0001631	Atrial septal defect	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001631	HP:0001631	Atrial septal defect	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0001631	HP:0001631	Atrial septal defect	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001631	HP:0001631	Atrial septal defect	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0001631	HP:0001631	Atrial septal defect	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0001631	HP:0001631	Atrial septal defect	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0001631	HP:0001631	Atrial septal defect	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0001631	HP:0001631	Atrial septal defect	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0001631	HP:0001631	Atrial septal defect	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040283 - Occasional	48
HP:0001631	HP:0001631	Atrial septal defect	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare	65
HP:0001631	HP:0001631	Atrial septal defect	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001631	HP:0001631	Atrial septal defect	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001631	HP:0001631	Atrial septal defect	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0001631	HP:0001631	Atrial septal defect	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001631	HP:0001631	Atrial septal defect	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0001631	HP:0001631	Atrial septal defect	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001631	HP:0001631	Atrial septal defect	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	HP:0040283 - Occasional	3
HP:0001631	HP:0001631	Atrial septal defect	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0001631	HP:0001631	Atrial septal defect	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0001631	HP:0001631	Atrial septal defect	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0001631	HP:0001631	Atrial septal defect	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0001631	HP:0001631	Atrial septal defect	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0001631	HP:0001631	Atrial septal defect	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0001631	HP:0001631	Atrial septal defect	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0001631	HP:0001631	Atrial septal defect	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional	102
HP:0001631	HP:0001631	Atrial septal defect	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0001631	HP:0001631	Atrial septal defect	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0001631	HP:0001631	Atrial septal defect	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0001631	HP:0001631	Atrial septal defect	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0001631	HP:0001631	Atrial septal defect	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001631	HP:0001631	Atrial septal defect	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0001631	HP:0001631	Atrial septal defect	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0001631	HP:0001631	Atrial septal defect	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001631	HP:0001631	Atrial septal defect	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0001631	HP:0001631	Atrial septal defect	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0001631	HP:0001631	Atrial septal defect	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0001631	HP:0001631	Atrial septal defect	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0001631	HP:0001631	Atrial septal defect	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0001631	HP:0001631	Atrial septal defect	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001631	HP:0001631	Atrial septal defect	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0001631	HP:0001631	Atrial septal defect	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0001631	HP:0001631	Atrial septal defect	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0001631	HP:0001631	Atrial septal defect	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040283 - Occasional	145
HP:0001631	HP:0001631	Atrial septal defect	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040283 - Occasional	145
HP:0001631	HP:0001631	Atrial septal defect	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001631	HP:0001631	Atrial septal defect	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001631	HP:0001631	Atrial septal defect	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0001631	HP:0001631	Atrial septal defect	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0001631	HP:0001631	Atrial septal defect	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0001631	HP:0001631	Atrial septal defect	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0001631	HP:0001631	Atrial septal defect	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0001631	HP:0001631	Atrial septal defect	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001631	HP:0001631	Atrial septal defect	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0001631	HP:0001631	Atrial septal defect	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001631	HP:0001631	Atrial septal defect	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0001631	HP:0001631	Atrial septal defect	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001631	HP:0001631	Atrial septal defect	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040284 - Very rare	65
HP:0001631	HP:0001631	Atrial septal defect	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001631	HP:0001631	Atrial septal defect	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0001631	HP:0001631	Atrial septal defect	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001631	HP:0001631	Atrial septal defect	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2	.	87
HP:0001631	HP:0001631	Atrial septal defect	0	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4		87
HP:0001631	HP:0001631	Atrial septal defect	0	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1	HP:0040283 - Occasional	87
HP:0001631	HP:0001631	Atrial septal defect	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0001631	HP:0001631	Atrial septal defect	0	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0001631	HP:0001631	Atrial septal defect	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0001631	HP:0001631	Atrial septal defect	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.	28
HP:0001631	HP:0001631	Atrial septal defect	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0001631	HP:0001631	Atrial septal defect	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	68
HP:0001631	HP:0001631	Atrial septal defect	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0001631	HP:0001631	Atrial septal defect	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0001631	HP:0001631	Atrial septal defect	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0001631	HP:0001631	Atrial septal defect	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0001631	HP:0001631	Atrial septal defect	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0001631	HP:0001631	Atrial septal defect	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome		7
HP:0001631	HP:0001631	Atrial septal defect	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		7
HP:0001631	HP:0001631	Atrial septal defect	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0001631	HP:0001631	Atrial septal defect	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0001631	HP:0001631	Atrial septal defect	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0001631	HP:0001631	Atrial septal defect	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001631	HP:0001631	Atrial septal defect	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0001631	HP:0001631	Atrial septal defect	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001631	HP:0001631	Atrial septal defect	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0001631	HP:0001631	Atrial septal defect	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0001631	HP:0001631	Atrial septal defect	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001631	HP:0001631	Atrial septal defect	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001631	HP:0001631	Atrial septal defect	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001631	HP:0001631	Atrial septal defect	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001631	HP:0001631	Atrial septal defect	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0001631	HP:0001631	Atrial septal defect	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0001631	HP:0001631	Atrial septal defect	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0001631	HP:0001631	Atrial septal defect	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0001631	HP:0001631	Atrial septal defect	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001631	HP:0001631	Atrial septal defect	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0001631	HP:0001631	Atrial septal defect	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0001631	HP:0001631	Atrial 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:0040283 - Occasional	8
HP:0001631	HP:0001631	Atrial 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:0040283 - Occasional	8
HP:0001631	HP:0001631	Atrial septal defect	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001631	HP:0001631	Atrial septal defect	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0001631	HP:0001631	Atrial septal defect	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001631	HP:0001631	Atrial septal defect	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0001631	HP:0001631	Atrial septal defect	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0001631	HP:0001631	Atrial septal defect	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0001631	HP:0001631	Atrial septal defect	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001631	HP:0001631	Atrial septal defect	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	HP:0040283 - Occasional	4
HP:0001631	HP:0001631	Atrial septal defect	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0001631	HP:0001631	Atrial septal defect	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0001631	HP:0001631	Atrial septal defect	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0001631	HP:0001631	Atrial septal defect	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0001631	HP:0001631	Atrial septal defect	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional	141
HP:0001631	HP:0001631	Atrial septal defect	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0001631	HP:0001631	Atrial septal defect	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001631	HP:0001631	Atrial septal defect	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	10
HP:0001631	HP:0001631	Atrial septal defect	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0001631	HP:0001631	Atrial septal defect	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0001631	HP:0001631	Atrial septal defect	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0001631	HP:0001631	Atrial septal defect	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0001631	HP:0001631	Atrial septal defect	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	HP:0040283 - Occasional	53
HP:0001631	HP:0001631	Atrial septal defect	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0001631	HP:0001631	Atrial septal defect	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0001631	HP:0001631	Atrial septal defect	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0001631	HP:0001631	Atrial septal defect	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0001631	HP:0001631	Atrial septal defect	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001631	HP:0001631	Atrial septal defect	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0001631	HP:0001631	Atrial septal defect	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0001631	HP:0001631	Atrial septal defect	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional	16
HP:0001631	HP:0001631	Atrial septal defect	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0001631	HP:0001631	Atrial septal defect	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001631	HP:0001631	Atrial septal defect	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001631	HP:0001631	Atrial septal defect	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0001631	HP:0001631	Atrial septal defect	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0001631	HP:0001631	Atrial septal defect	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001631	HP:0001631	Atrial septal defect	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0001631	HP:0001631	Atrial septal defect	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001631	HP:0001631	Atrial septal defect	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0001631	HP:0001631	Atrial septal defect	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0001631	HP:0001631	Atrial septal defect	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0001631	HP:0001631	Atrial septal defect	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0001631	HP:0001631	Atrial septal defect	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001631	HP:0001631	Atrial septal defect	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0001631	HP:0001631	Atrial septal defect	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0001631	HP:0001631	Atrial septal defect	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0001631	HP:0001631	Atrial septal defect	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0001631	HP:0001631	Atrial septal defect	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001631	HP:0001631	Atrial septal defect	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001631	HP:0001631	Atrial septal defect	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0001631	HP:0001631	Atrial septal defect	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0001631	HP:0001631	Atrial septal defect	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001631	HP:0001631	Atrial septal defect	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0001631	HP:0001631	Atrial septal defect	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	228
HP:0001631	HP:0001631	Atrial septal defect	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0001631	HP:0001631	Atrial septal defect	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0001631	HP:0001631	Atrial septal defect	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0001631	HP:0001631	Atrial septal defect	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0001631	HP:0001631	Atrial septal defect	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0001631	HP:0001631	Atrial septal defect	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0001631	HP:0001631	Atrial septal defect	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001631	HP:0001631	Atrial septal defect	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0001631	HP:0001631	Atrial septal defect	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0001631	HP:0001631	Atrial septal defect	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001631	HP:0001631	Atrial septal defect	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0001631	HP:0001631	Atrial septal defect	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0001631	HP:0001631	Atrial septal defect	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0001631	HP:0001631	Atrial septal defect	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0001631	HP:0001631	Atrial septal defect	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001631	HP:0001631	Atrial septal defect	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001631	HP:0001631	Atrial septal defect	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001631	HP:0001631	Atrial septal defect	0	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3		452
HP:0001631	HP:0001631	Atrial septal defect	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent	1269
HP:0001631	HP:0001631	Atrial septal defect	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0001631	HP:0001631	Atrial septal defect	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0001631	HP:0001631	Atrial septal defect	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0001631	HP:0001631	Atrial septal defect	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0001631	HP:0001631	Atrial septal defect	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001631	HP:0001631	Atrial septal defect	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	96
HP:0001631	HP:0001631	Atrial septal defect	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0001631	HP:0001631	Atrial septal defect	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.	9
HP:0001631	HP:0001631	Atrial septal defect	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0001631	HP:0001631	Atrial septal defect	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	HP:0040284 - Very rare	20
HP:0001631	HP:0001631	Atrial septal defect	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0001631	HP:0001631	Atrial septal defect	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	117
HP:0001631	HP:0001631	Atrial septal defect	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	1
HP:0001631	HP:0001631	Atrial septal defect	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0001631	HP:0001631	Atrial septal defect	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001631	HP:0001631	Atrial septal defect	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0001631	HP:0001631	Atrial septal defect	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0001631	HP:0001631	Atrial septal defect	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects		90
HP:0001631	HP:0001631	Atrial septal defect	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	90
HP:0001631	HP:0001631	Atrial septal defect	0	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3	HP:0040283 - Occasional	90
HP:0001631	HP:0001631	Atrial septal defect	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0001631	HP:0001631	Atrial septal defect	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001631	HP:0001631	Atrial septal defect	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0001631	HP:0001631	Atrial septal defect	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0001631	HP:0001631	Atrial septal defect	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001631	HP:0001631	Atrial septal defect	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0001631	HP:0001631	Atrial septal defect	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0001631	HP:0001631	Atrial septal defect	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0001631	HP:0001631	Atrial septal defect	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001631	HP:0001631	Atrial septal defect	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0001631	HP:0001631	Atrial septal defect	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001631	HP:0001631	Atrial septal defect	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0001631	HP:0001631	Atrial septal defect	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0001631	HP:0001631	Atrial septal defect	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0001631	HP:0001631	Atrial septal defect	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0001631	HP:0001631	Atrial septal defect	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0001631	HP:0001631	Atrial septal defect	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001631	HP:0001631	Atrial septal defect	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0001631	HP:0001631	Atrial septal defect	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0001631	HP:0001631	Atrial septal defect	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001631	HP:0001631	Atrial septal defect	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0001631	HP:0001631	Atrial septal defect	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0001631	HP:0001631	Atrial septal defect	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0001631	HP:0001631	Atrial septal defect	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001631	HP:0001631	Atrial septal defect	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0001631	HP:0001631	Atrial septal defect	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0001631	HP:0001631	Atrial septal defect	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0001631	HP:0001631	Atrial septal defect	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0001631	HP:0001631	Atrial septal defect	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0001631	HP:0001631	Atrial septal defect	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0001631	HP:0001631	Atrial septal defect	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001631	HP:0001631	Atrial septal defect	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0001631	HP:0001631	Atrial septal defect	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0001631	HP:0001631	Atrial septal defect	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0001631	HP:0001631	Atrial septal defect	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0001631	HP:0001631	Atrial septal defect	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0001631	HP:0001631	Atrial septal defect	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001631	HP:0001631	Atrial septal defect	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0001631	HP:0001631	Atrial septal defect	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001631	HP:0001631	Atrial septal defect	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0001631	HP:0001631	Atrial septal defect	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent	28
HP:0001631	HP:0001631	Atrial septal defect	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0001631	HP:0001631	Atrial septal defect	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent	28
HP:0001631	HP:0001631	Atrial septal defect	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0001631	HP:0001631	Atrial septal defect	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001631	HP:0001631	Atrial septal defect	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0001631	HP:0001631	Atrial septal defect	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0001631	HP:0001631	Atrial septal defect	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001631	HP:0001631	Atrial septal defect	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0001631	HP:0001631	Atrial septal defect	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0001631	HP:0001631	Atrial septal defect	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0001631	HP:0001631	Atrial septal defect	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001631	HP:0001631	Atrial septal defect	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0001631	HP:0001631	Atrial septal defect	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0001631	HP:0001631	Atrial septal defect	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0001631	HP:0001631	Atrial septal defect	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0001631	HP:0001631	Atrial septal defect	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0001631	HP:0001631	Atrial septal defect	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0001631	HP:0001631	Atrial septal defect	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0001631	HP:0001631	Atrial septal defect	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040281 - Very frequent	16
HP:0001631	HP:0001631	Atrial septal defect	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0001631	HP:0001631	Atrial septal defect	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	334
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0001631	HP:0001631	Atrial septal defect	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0001631	HP:0001631	Atrial septal defect	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0001631	HP:0001631	Atrial septal defect	0	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	HP:0040284 - Very rare
HP:0001631	HP:0001631	Atrial septal defect	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0001631	HP:0001631	Atrial septal defect	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001631	HP:0001631	Atrial septal defect	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0001631	HP:0001631	Atrial septal defect	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001631	HP:0001631	Atrial septal defect	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001631	HP:0001631	Atrial septal defect	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16	.	1
HP:0001631	HP:0001631	Atrial septal defect	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0001631	HP:0001631	Atrial septal defect	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001631	HP:0001631	Atrial septal defect	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0001631	HP:0001631	Atrial septal defect	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0001631	HP:0001631	Atrial septal defect	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0001631	HP:0001631	Atrial septal defect	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0001631	HP:0001631	Atrial septal defect	0	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4	.	5
HP:0001631	HP:0001631	Atrial septal defect	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0001631	HP:0001631	Atrial septal defect	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001631	HP:0001631	Atrial septal defect	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001631	HP:0001631	Atrial septal defect	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0001631	HP:0001631	Atrial septal defect	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001631	HP:0001631	Atrial septal defect	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0001631	HP:0001631	Atrial septal defect	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001631	HP:0001631	Atrial septal defect	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0001631	HP:0001631	Atrial septal defect	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0001631	HP:0001631	Atrial septal defect	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0001631	HP:0001631	Atrial septal defect	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0001631	HP:0001631	Atrial septal defect	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0001631	HP:0001631	Atrial septal defect	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001631	HP:0001631	Atrial septal defect	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0001631	HP:0001631	Atrial septal defect	0	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0001631	HP:0001631	Atrial septal defect	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0001631	HP:0001631	Atrial septal defect	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001631	HP:0001631	Atrial septal defect	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001631	HP:0001631	Atrial septal defect	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001631	HP:0001631	Atrial septal defect	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001631	HP:0001631	Atrial septal defect	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0001631	HP:0001631	Atrial septal defect	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001631	HP:0001631	Atrial septal defect	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001631	HP:0001631	Atrial septal defect	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.	55
HP:0001631	HP:0001631	Atrial septal defect	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040283 - Occasional	55
HP:0001631	HP:0001631	Atrial septal defect	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0001631	HP:0001631	Atrial septal defect	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0001631	HP:0001631	Atrial septal defect	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0001631	HP:0001631	Atrial septal defect	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001631	HP:0001631	Atrial septal defect	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0001631	HP:0001631	Atrial septal defect	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0001631	HP:0001631	Atrial septal defect	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040282 - Frequent	146
HP:0001631	HP:0001631	Atrial septal defect	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0001631	HP:0001631	Atrial septal defect	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0001631	HP:0001631	Atrial septal defect	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0001631	HP:0001631	Atrial septal defect	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0001631	HP:0001631	Atrial septal defect	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0001631	HP:0001631	Atrial 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:0001631	HP:0001631	Atrial septal defect	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0001631	HP:0001631	Atrial septal defect	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0001631	HP:0001631	Atrial septal defect	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001631	HP:0001631	Atrial septal defect	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0001631	HP:0001631	Atrial septal defect	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0001631	HP:0001631	Atrial septal defect	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0001631	HP:0001631	Atrial septal defect	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0001631	HP:0001631	Atrial septal defect	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0001631	HP:0001631	Atrial septal defect	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001631	HP:0001631	Atrial septal defect	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001631	HP:0001631	Atrial septal defect	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0001631	HP:0001631	Atrial septal defect	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040284 - Very rare	19
HP:0001631	HP:0001631	Atrial septal defect	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0001631	HP:0001631	Atrial septal defect	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0001631	HP:0001631	Atrial septal defect	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare	138
HP:0001631	HP:0001631	Atrial septal defect	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0001631	HP:0001631	Atrial septal defect	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0001631	HP:0001631	Atrial septal defect	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0001631	HP:0001631	Atrial septal defect	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0001631	HP:0001631	Atrial septal defect	0	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0001631	HP:0001631	Atrial septal defect	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0001631	HP:0001631	Atrial septal defect	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0001631	HP:0001631	Atrial septal defect	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional	6
HP:0001631	HP:0001631	Atrial septal defect	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0001631	HP:0001631	Atrial septal defect	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040283 - Occasional	34
HP:0001631	HP:0001631	Atrial septal defect	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0001631	HP:0001631	Atrial septal defect	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001631	HP:0001631	Atrial septal defect	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0001631	HP:0001631	Atrial septal defect	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0001631	HP:0001631	Atrial septal defect	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0001631	HP:0001631	Atrial septal defect	0	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4		20
HP:0001631	HP:0001631	Atrial septal defect	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040283 - Occasional	28
HP:0001631	HP:0001631	Atrial septal defect	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0001631	HP:0001631	Atrial septal defect	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent	123
HP:0001631	HP:0001631	Atrial septal defect	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001631	HP:0001631	Atrial septal defect	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6
HP:0001631	HP:0001631	Atrial septal defect	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001631	HP:0001631	Atrial septal defect	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0001631	HP:0001631	Atrial septal defect	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0001631	HP:0001631	Atrial septal defect	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.	4
HP:0001631	HP:0001631	Atrial septal defect	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent	4
HP:0001631	HP:0001631	Atrial septal defect	0	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6	.	6
HP:0001631	HP:0001631	Atrial septal defect	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0001631	HP:0001631	Atrial septal defect	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001631	HP:0001631	Atrial septal defect	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0001631	HP:0001631	Atrial septal defect	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0001631	HP:0001631	Atrial septal defect	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001631	HP:0001631	Atrial septal defect	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2
HP:0001631	HP:0001631	Atrial septal defect	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0001631	HP:0001631	Atrial septal defect	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0001631	HP:0001631	Atrial septal defect	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0001631	HP:0001631	Atrial septal defect	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0001631	HP:0001631	Atrial septal defect	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0001631	HP:0001631	Atrial septal defect	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001631	HP:0001631	Atrial septal defect	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001631	HP:0001631	Atrial septal defect	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	14
HP:0001631	HP:0001631	Atrial septal defect	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0001631	HP:0001631	Atrial septal defect	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0001631	HP:0001631	Atrial septal defect	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0001631	HP:0001631	Atrial septal defect	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0001631	HP:0001631	Atrial septal defect	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001631	HP:0001631	Atrial septal defect	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0001631	HP:0001631	Atrial septal defect	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001631	HP:0001631	Atrial septal defect	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	HP:0040283 - Occasional	135
HP:0001631	HP:0001631	Atrial septal defect	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	33
HP:0001631	HP:0001631	Atrial septal defect	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0001631	HP:0001631	Atrial septal defect	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0001631	HP:0001631	Atrial septal defect	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0001631	HP:0001631	Atrial septal defect	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0001631	HP:0001631	Atrial septal defect	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0001631	HP:0001631	Atrial septal defect	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0001631	HP:0001631	Atrial septal defect	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001631	HP:0001631	Atrial septal defect	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0001631	HP:0001631	Atrial septal defect	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001631	Atrial septal defect	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0001631	HP:0001631	Atrial septal defect	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0001631	HP:0001631	Atrial septal defect	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0001631	HP:0001631	Atrial septal defect	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001631	HP:0001631	Atrial septal defect	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001631	HP:0001631	Atrial septal defect	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0001631	HP:0001631	Atrial septal defect	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0001631	HP:0001631	Atrial septal defect	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0001631	HP:0001631	Atrial septal defect	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5
HP:0001631	HP:0001631	Atrial septal defect	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0001631	HP:0001631	Atrial septal defect	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0001631	HP:0001631	Atrial septal defect	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001631	HP:0001631	Atrial septal defect	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	10
HP:0001631	HP:0001631	Atrial septal defect	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0001631	HP:0001631	Atrial septal defect	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39
HP:0001631	HP:0001631	Atrial septal defect	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0001631	HP:0001631	Atrial septal defect	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0001631	HP:0001631	Atrial septal defect	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001631	HP:0001631	Atrial septal defect	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001631	HP:0031017	Swiss cheese atrial septal defect	1	CL E G H
HP:0001631	HP:0011567	Sinus venosus atrial septal defect	1	CL E G H
HP:0001631	HP:0031297	Unroofed coronary sinus	1	CL E G H
HP:0001631	HP:0001655	Patent foramen ovale	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0001631	HP:0001684	Secundum atrial septal defect	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0001631	HP:0001655	Patent foramen ovale	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0001631	HP:0001655	Patent foramen ovale	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0001631	HP:0001655	Patent foramen ovale	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001631	HP:0001655	Patent foramen ovale	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare	68
HP:0001631	HP:0001655	Patent foramen ovale	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0001631	HP:0001655	Patent foramen ovale	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0001631	HP:0001655	Patent foramen ovale	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001631	HP:0001655	Patent foramen ovale	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0001631	HP:0001655	Patent foramen ovale	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0001631	HP:0001684	Secundum atrial septal defect	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001631	HP:0001655	Patent foramen ovale	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0001631	HP:0001655	Patent foramen ovale	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0001631	HP:0001655	Patent foramen ovale	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional	572
HP:0001631	HP:0001655	Patent foramen ovale	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0001631	HP:0001655	Patent foramen ovale	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001631	HP:0001655	Patent foramen ovale	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001631	HP:0010445	Primum atrial septal defect	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001631	HP:0001684	Secundum atrial septal defect	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0001631	HP:0001655	Patent foramen ovale	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0001631	HP:0001655	Patent foramen ovale	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0001631	HP:0001655	Patent foramen ovale	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001631	HP:0001655	Patent foramen ovale	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0001631	HP:0001655	Patent foramen ovale	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001631	HP:0001655	Patent foramen ovale	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0001631	HP:0001655	Patent foramen ovale	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001631	HP:0001655	Patent foramen ovale	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001631	HP:0001684	Secundum atrial septal defect	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001631	HP:0001655	Patent foramen ovale	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001631	HP:0001655	Patent foramen ovale	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0001631	HP:0001655	Patent foramen ovale	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0001631	HP:0001655	Patent foramen ovale	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001631	HP:0001655	Patent foramen ovale	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0001631	HP:0010445	Primum atrial septal defect	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0001631	HP:0001655	Patent foramen ovale	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0001631	HP:0001655	Patent foramen ovale	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001631	HP:0001655	Patent foramen ovale	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001631	HP:0001655	Patent foramen ovale	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0001631	HP:0001655	Patent foramen ovale	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0001631	HP:0001655	Patent foramen ovale	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001631	HP:0001655	Patent foramen ovale	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001631	HP:0001684	Secundum atrial septal defect	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001631	HP:0001655	Patent foramen ovale	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001631	HP:0010445	Primum atrial septal defect	1	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4	.	87
HP:0001631	HP:0001684	Secundum atrial septal defect	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9	.	37
HP:0001631	HP:0001655	Patent foramen ovale	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0001631	HP:0001655	Patent foramen ovale	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent	37
HP:0001631	HP:0001684	Secundum atrial septal defect	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0001631	HP:0010445	Primum atrial septal defect	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0001631	HP:0001655	Patent foramen ovale	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional	7
HP:0001631	HP:0001655	Patent foramen ovale	1	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		7
HP:0001631	HP:0001655	Patent foramen ovale	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0001631	HP:0001684	Secundum atrial septal defect	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001631	HP:0001684	Secundum atrial septal defect	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001631	HP:0001655	Patent foramen ovale	1	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0001631	HP:0001684	Secundum atrial septal defect	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001631	HP:0001655	Patent foramen ovale	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome	.	6
HP:0001631	HP:0001684	Secundum atrial septal defect	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001631	HP:0001655	Patent foramen ovale	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0001631	HP:0001655	Patent foramen ovale	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001631	HP:0001684	Secundum atrial septal defect	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001631	HP:0001655	Patent foramen ovale	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	10
HP:0001631	HP:0001655	Patent foramen ovale	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0001631	HP:0001684	Secundum atrial septal defect	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0001631	HP:0001655	Patent foramen ovale	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001631	HP:0001655	Patent foramen ovale	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0001631	HP:0001655	Patent foramen ovale	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0001631	HP:0001655	Patent foramen ovale	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0001631	HP:0001655	Patent foramen ovale	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0001631	HP:0001655	Patent foramen ovale	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001631	HP:0001655	Patent foramen ovale	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0001631	HP:0001655	Patent foramen ovale	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0001631	HP:0001684	Secundum atrial septal defect	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0001631	HP:0001684	Secundum atrial septal defect	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001631	HP:0001655	Patent foramen ovale	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0001631	HP:0001655	Patent foramen ovale	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001631	HP:0001655	Patent foramen ovale	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001631	HP:0001684	Secundum atrial septal defect	1	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3		452
HP:0001631	HP:0001684	Secundum atrial septal defect	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001631	HP:0001655	Patent foramen ovale	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001631	HP:0001655	Patent foramen ovale	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0001631	HP:0001655	Patent foramen ovale	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	96
HP:0001631	HP:0001655	Patent foramen ovale	1	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:0001631	HP:0001684	Secundum atrial septal defect	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.	1952
HP:0001631	HP:0001655	Patent foramen ovale	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0001631	HP:0001684	Secundum atrial septal defect	1	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	.	90
HP:0001631	HP:0001655	Patent foramen ovale	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0001631	HP:0001655	Patent foramen ovale	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001631	HP:0001655	Patent foramen ovale	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0001631	HP:0001684	Secundum atrial septal defect	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0001631	HP:0001655	Patent foramen ovale	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0001631	HP:0001655	Patent foramen ovale	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0001631	HP:0001655	Patent foramen ovale	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.	24
HP:0001631	HP:0001684	Secundum atrial septal defect	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001631	HP:0001655	Patent foramen ovale	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001631	HP:0001655	Patent foramen ovale	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent	37
HP:0001631	HP:0001655	Patent foramen ovale	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001631	HP:0001655	Patent foramen ovale	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0001631	HP:0001655	Patent foramen ovale	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0001631	HP:0001684	Secundum atrial septal defect	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0001631	HP:0001655	Patent foramen ovale	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0001631	HP:0001655	Patent foramen ovale	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0001631	HP:0001684	Secundum atrial septal defect	1	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0001631	HP:0001655	Patent foramen ovale	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001631	HP:0001655	Patent foramen ovale	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001631	HP:0001684	Secundum atrial septal defect	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0001631	HP:0001684	Secundum atrial septal defect	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	HP:0040283 - Occasional	22
HP:0001631	HP:0001655	Patent foramen ovale	1	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:0001631	HP:0001655	Patent foramen ovale	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0001631	HP:0001655	Patent foramen ovale	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	334
HP:0001631	HP:0001655	Patent foramen ovale	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0001631	HP:0001655	Patent foramen ovale	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0001631	HP:0001655	Patent foramen ovale	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001631	HP:0001684	Secundum atrial septal defect	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0001631	HP:0001655	Patent foramen ovale	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001631	HP:0001655	Patent foramen ovale	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0001631	HP:0001655	Patent foramen ovale	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0001631	HP:0001655	Patent foramen ovale	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0001631	HP:0001655	Patent foramen ovale	1	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0001631	HP:0001655	Patent foramen ovale	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001631	HP:0001684	Secundum atrial septal defect	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001631	HP:0001684	Secundum atrial septal defect	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001631	HP:0001655	Patent foramen ovale	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001631	HP:0001655	Patent foramen ovale	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0001631	HP:0001655	Patent foramen ovale	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0001631	HP:0001655	Patent foramen ovale	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0001631	HP:0001655	Patent foramen ovale	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0001631	HP:0001655	Patent foramen ovale	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0001631	HP:0001655	Patent foramen ovale	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0001631	HP:0001655	Patent foramen ovale	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001631	HP:0001655	Patent foramen ovale	1	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4		20
HP:0001631	HP:0001684	Secundum atrial septal defect	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001631	HP:0001655	Patent foramen ovale	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001631	HP:0001655	Patent foramen ovale	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.	4
HP:0001631	HP:0001655	Patent foramen ovale	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional	4
HP:0001631	HP:0001655	Patent foramen ovale	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001631	HP:0001655	Patent foramen ovale	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0001631	HP:0001655	Patent foramen ovale	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0001631	HP:0001655	Patent foramen ovale	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0001631	HP:0001684	Secundum atrial septal defect	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0001631	HP:0001655	Patent foramen ovale	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0001631	HP:0001655	Patent foramen ovale	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0001631	HP:0001684	Secundum atrial septal defect	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001631	HP:0001655	Patent foramen ovale	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001631	HP:0010445	Primum atrial septal defect	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001631	HP:0001655	Patent foramen ovale	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0001631	HP:0001655	Patent foramen ovale	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0001631	HP:0001684	Secundum atrial septal defect	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0001631	HP:0001655	Patent foramen ovale	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0001631	HP:0001655	Patent foramen ovale	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0001631	HP:0001655	Patent foramen ovale	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0001631	HP:0001655	Patent foramen ovale	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001631	HP:0001655	Patent foramen ovale	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001631	HP:0001655	Patent foramen ovale	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0001631	HP:0001655	Patent foramen ovale	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0001631	HP:0001655	Patent foramen ovale	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001631	HP:0001655	Patent foramen ovale	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS