Human Phenotype Ontology

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

Grandparent Node:
Abnormal heart morphology (HP:0001627)

Parent Node:
Abnormal cardiac septum morphology (HP:0001671)

..Starting node
..Abnormal atrial septum morphology (HP:0011994)

Term ID:

11994

Name:

Abnormal atrial septum morphology

Synonym:

Abnormal interatrial septum morphology; Abnormality of the atrial septum

Definition:

An abnormality of the interatrial septum.

Comments:

Reference:

HP:0011994

Genes and Diseases:

Child Nodes:

........

Atrial septal defect (HP:0001631)

................... HP:0001655 Patent foramen ovale
................... HP:0001684 Secundum atrial septal defect
................... HP:0010445 Primum atrial septal defect
................... HP:0011567 Sinus venosus atrial septal defect
................... HP:0031017 Swiss cheese atrial septal defect
................... HP:0031297 Unroofed coronary sinus

........

Atrial septal dilatation (HP:0011995)

Sister Nodes:

Abnormal ventricular septum morphology (HP:0010438)

Atrioventricular canal defect (HP:0006695)

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:0011994	HP:0011994	Abnormal atrial septum morphology	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5		208
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	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:0011994	HP:0011994	Abnormal atrial septum morphology	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0011994	HP:0011994	Abnormal atrial septum morphology	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:0011994	HP:0011994	Abnormal atrial septum morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2		97
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome		13
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome		572
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0011994	HP:0011994	Abnormal atrial septum morphology	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:0011994	HP:0011994	Abnormal atrial septum morphology	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome		102
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2		145
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria		65
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4		87
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1		87
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5		10
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome		68
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome		7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	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:0011994	HP:0011994	Abnormal atrial septum morphology	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		10
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome		16
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3		452
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve		1269
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		96
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects		90
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome		90
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3		90
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2		138
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome		12
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome		28
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type		28
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		334
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0011994	HP:0011994	Abnormal atrial septum morphology	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:0011994	HP:0011994	Abnormal atrial septum morphology	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome		55
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome		19
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency		34
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4		20
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome		123
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria		135
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011994	HP:0011994	Abnormal atrial septum morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011994	HP:0001631	Atrial septal defect	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0011994	HP:0001631	Atrial septal defect	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0011994	HP:0001631	Atrial septal defect	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0011994	HP:0001631	Atrial septal defect	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0011994	HP:0001631	Atrial septal defect	1	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5	.	208
HP:0011994	HP:0001631	Atrial septal defect	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0011994	HP:0001631	Atrial septal defect	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0011994	HP:0001631	Atrial septal defect	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0011994	HP:0001631	Atrial septal defect	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	HP:0040283 - Occasional	26
HP:0011994	HP:0001631	Atrial septal defect	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0011994	HP:0001631	Atrial septal defect	1	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:0011994	HP:0001631	Atrial septal defect	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011994	HP:0001631	Atrial septal defect	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0011994	HP:0001631	Atrial septal defect	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0011994	HP:0001631	Atrial septal defect	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0011994	HP:0001631	Atrial septal defect	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0011994	HP:0001631	Atrial septal defect	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0011994	HP:0001631	Atrial septal defect	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0011994	HP:0001631	Atrial septal defect	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0011994	HP:0001631	Atrial septal defect	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0011994	HP:0001631	Atrial septal defect	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0011994	HP:0001631	Atrial septal defect	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0011994	HP:0001631	Atrial septal defect	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0011994	HP:0001631	Atrial septal defect	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0011994	HP:0001631	Atrial septal defect	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0011994	HP:0001631	Atrial septal defect	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0011994	HP:0001631	Atrial septal defect	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0011994	HP:0001631	Atrial septal defect	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0011994	HP:0001631	Atrial septal defect	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0011994	HP:0001631	Atrial septal defect	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0011994	HP:0001631	Atrial septal defect	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0011994	HP:0001631	Atrial septal defect	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0011994	HP:0001631	Atrial septal defect	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0011994	HP:0001631	Atrial septal defect	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011994	HP:0011995	Atrial septal dilatation	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0011994	HP:0011995	Atrial septal dilatation	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0011994	HP:0001631	Atrial septal defect	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0011994	HP:0001631	Atrial septal defect	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0011994	HP:0001631	Atrial septal defect	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0011994	HP:0001631	Atrial septal defect	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0011994	HP:0001631	Atrial septal defect	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:0011994	HP:0001631	Atrial septal defect	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0011994	HP:0001631	Atrial septal defect	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2	HP:0040283 - Occasional	97
HP:0011994	HP:0001631	Atrial septal defect	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0011994	HP:0001631	Atrial septal defect	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0011994	HP:0001631	Atrial septal defect	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0011994	HP:0001631	Atrial septal defect	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional	13
HP:0011994	HP:0001631	Atrial septal defect	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0011994	HP:0001631	Atrial septal defect	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0011994	HP:0001631	Atrial septal defect	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0011994	HP:0001631	Atrial septal defect	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0011994	HP:0001631	Atrial septal defect	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0011994	HP:0001631	Atrial septal defect	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0011994	HP:0001631	Atrial septal defect	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0011994	HP:0001631	Atrial septal defect	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0011994	HP:0001631	Atrial septal defect	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0011994	HP:0001631	Atrial septal defect	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0011994	HP:0001631	Atrial septal defect	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0011994	HP:0001631	Atrial septal defect	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0011994	HP:0001631	Atrial septal defect	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome		572
HP:0011994	HP:0001631	Atrial septal defect	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0011994	HP:0001631	Atrial septal defect	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011994	HP:0001631	Atrial septal defect	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0011994	HP:0001631	Atrial septal defect	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0011994	HP:0001631	Atrial septal defect	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0011994	HP:0001631	Atrial septal defect	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011994	HP:0001631	Atrial septal defect	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0011994	HP:0001631	Atrial septal defect	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	HP:0040284 - Very rare	2
HP:0011994	HP:0001631	Atrial septal defect	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0011994	HP:0001631	Atrial septal defect	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011994	HP:0001631	Atrial septal defect	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0011994	HP:0001631	Atrial septal defect	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0011994	HP:0001631	Atrial septal defect	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0011994	HP:0001631	Atrial septal defect	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0011994	HP:0001631	Atrial septal defect	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0011994	HP:0001631	Atrial septal defect	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0011994	HP:0001631	Atrial septal defect	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0011994	HP:0001631	Atrial septal defect	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional	4
HP:0011994	HP:0001631	Atrial septal defect	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0011994	HP:0001631	Atrial septal defect	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:0011994	HP:0001631	Atrial septal defect	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011994	HP:0001631	Atrial septal defect	1	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0011994	HP:0001631	Atrial septal defect	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011994	HP:0001631	Atrial septal defect	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0011995	Atrial septal dilatation	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0011994	HP:0001631	Atrial septal defect	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0011994	HP:0001631	Atrial septal defect	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0011994	HP:0001631	Atrial septal defect	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0011994	HP:0001631	Atrial septal defect	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0011994	HP:0001631	Atrial septal defect	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0011994	HP:0001631	Atrial septal defect	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0011994	HP:0001631	Atrial septal defect	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0011994	HP:0001631	Atrial septal defect	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0011994	HP:0001631	Atrial septal defect	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0011994	HP:0001631	Atrial septal defect	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0011994	HP:0001631	Atrial septal defect	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011994	HP:0001631	Atrial septal defect	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0011994	HP:0001631	Atrial septal defect	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0011994	HP:0001631	Atrial septal defect	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0011994	HP:0001631	Atrial septal defect	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0011994	HP:0001631	Atrial septal defect	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0011994	HP:0001631	Atrial septal defect	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0011994	HP:0001631	Atrial septal defect	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0011994	HP:0001631	Atrial septal defect	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0011994	HP:0001631	Atrial septal defect	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0011994	HP:0001631	Atrial septal defect	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0011994	HP:0001631	Atrial septal defect	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011994	HP:0001631	Atrial septal defect	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011994	HP:0001631	Atrial septal defect	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0011994	HP:0001631	Atrial septal defect	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0011994	HP:0001631	Atrial septal defect	1	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:0011994	HP:0001631	Atrial septal defect	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0011994	HP:0001631	Atrial septal defect	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0011994	HP:0001631	Atrial septal defect	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011994	HP:0001631	Atrial septal defect	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011994	HP:0001631	Atrial septal defect	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0011994	HP:0001631	Atrial septal defect	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011994	HP:0001631	Atrial septal defect	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0011994	HP:0001631	Atrial septal defect	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0011994	HP:0001631	Atrial septal defect	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0011994	HP:0001631	Atrial septal defect	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0011994	HP:0001631	Atrial septal defect	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0011994	HP:0001631	Atrial septal defect	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040283 - Occasional	48
HP:0011994	HP:0001631	Atrial septal defect	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare	65
HP:0011994	HP:0001631	Atrial septal defect	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0011994	HP:0001631	Atrial septal defect	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0011994	HP:0001631	Atrial septal defect	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0011994	HP:0001631	Atrial septal defect	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011994	HP:0001631	Atrial septal defect	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0011994	HP:0001631	Atrial septal defect	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011994	HP:0001631	Atrial septal defect	1	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	HP:0040283 - Occasional	3
HP:0011994	HP:0001631	Atrial septal defect	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0011994	HP:0001631	Atrial septal defect	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0011994	HP:0001631	Atrial septal defect	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0011994	HP:0001631	Atrial septal defect	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0011994	HP:0001631	Atrial septal defect	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0011994	HP:0001631	Atrial septal defect	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0011994	HP:0001631	Atrial septal defect	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0011994	HP:0001631	Atrial septal defect	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional	102
HP:0011994	HP:0001631	Atrial septal defect	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0011994	HP:0001631	Atrial septal defect	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0011994	HP:0001631	Atrial septal defect	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0011994	HP:0001631	Atrial septal defect	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0011994	HP:0001631	Atrial septal defect	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0011994	HP:0001631	Atrial septal defect	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0011994	HP:0001631	Atrial septal defect	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0011994	HP:0001631	Atrial septal defect	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0011994	HP:0001631	Atrial septal defect	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0011994	HP:0001631	Atrial septal defect	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0011994	HP:0001631	Atrial septal defect	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0011994	HP:0001631	Atrial septal defect	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0011994	HP:0001631	Atrial septal defect	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0011994	HP:0001631	Atrial septal defect	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0011994	HP:0001631	Atrial septal defect	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0011994	HP:0001631	Atrial septal defect	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0011994	HP:0001631	Atrial septal defect	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0011994	HP:0001631	Atrial septal defect	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040283 - Occasional	145
HP:0011994	HP:0001631	Atrial septal defect	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040283 - Occasional	145
HP:0011994	HP:0001631	Atrial septal defect	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011994	HP:0001631	Atrial septal defect	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0011994	HP:0001631	Atrial septal defect	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0011994	HP:0001631	Atrial septal defect	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0011994	HP:0001631	Atrial septal defect	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0011994	HP:0001631	Atrial septal defect	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0011994	HP:0001631	Atrial septal defect	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0011994	HP:0001631	Atrial septal defect	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011994	HP:0001631	Atrial septal defect	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0011994	HP:0001631	Atrial septal defect	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0011994	HP:0001631	Atrial septal defect	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0011994	HP:0001631	Atrial septal defect	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0011994	HP:0001631	Atrial septal defect	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040284 - Very rare	65
HP:0011994	HP:0001631	Atrial septal defect	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0011994	HP:0001631	Atrial septal defect	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0011994	HP:0001631	Atrial septal defect	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0011994	HP:0001631	Atrial septal defect	1	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2	.	87
HP:0011994	HP:0001631	Atrial septal defect	1	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4		87
HP:0011994	HP:0001631	Atrial septal defect	1	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1	HP:0040283 - Occasional	87
HP:0011994	HP:0001631	Atrial septal defect	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0011994	HP:0001631	Atrial septal defect	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0011994	HP:0001631	Atrial septal defect	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0011994	HP:0001631	Atrial septal defect	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent	37
HP:0011994	HP:0001631	Atrial septal defect	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0011994	HP:0001631	Atrial septal defect	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.	28
HP:0011994	HP:0001631	Atrial septal defect	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0011994	HP:0001631	Atrial septal defect	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	68
HP:0011994	HP:0001631	Atrial septal defect	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0011994	HP:0001631	Atrial septal defect	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0011994	HP:0001631	Atrial septal defect	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0011994	HP:0001631	Atrial septal defect	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0011994	HP:0001631	Atrial septal defect	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0011994	HP:0001631	Atrial septal defect	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome		7
HP:0011994	HP:0001631	Atrial septal defect	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:0011994	HP:0001631	Atrial septal defect	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0011994	HP:0001631	Atrial septal defect	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0011994	HP:0001631	Atrial septal defect	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0011994	HP:0001631	Atrial septal defect	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0011994	HP:0001631	Atrial septal defect	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0011994	HP:0001631	Atrial septal defect	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011994	HP:0001631	Atrial septal defect	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0011994	HP:0001631	Atrial septal defect	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0011994	HP:0001631	Atrial septal defect	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011994	HP:0001631	Atrial septal defect	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011994	HP:0001631	Atrial septal defect	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011994	HP:0001631	Atrial septal defect	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011994	HP:0001631	Atrial septal defect	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0011994	HP:0001631	Atrial septal defect	1	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0011994	HP:0001631	Atrial septal defect	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0011994	HP:0001631	Atrial septal defect	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0011994	HP:0001631	Atrial septal defect	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011994	HP:0001631	Atrial septal defect	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0011994	HP:0001631	Atrial septal defect	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0011994	HP:0001631	Atrial septal defect	1	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:0011994	HP:0001631	Atrial septal defect	1	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:0011994	HP:0001631	Atrial septal defect	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0011994	HP:0001631	Atrial septal defect	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0011994	HP:0001631	Atrial septal defect	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0011994	HP:0001631	Atrial septal defect	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0011994	HP:0001631	Atrial septal defect	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0011994	HP:0001631	Atrial septal defect	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0011994	HP:0001631	Atrial septal defect	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011994	HP:0001631	Atrial septal defect	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	HP:0040283 - Occasional	4
HP:0011994	HP:0001631	Atrial septal defect	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0011994	HP:0001631	Atrial septal defect	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0011994	HP:0001631	Atrial septal defect	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0011994	HP:0001631	Atrial septal defect	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0011994	HP:0001631	Atrial septal defect	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0011994	HP:0001631	Atrial septal defect	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0011994	HP:0001631	Atrial septal defect	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent	34
HP:0011994	HP:0001631	Atrial septal defect	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0011994	HP:0001631	Atrial septal defect	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional	141
HP:0011994	HP:0001631	Atrial septal defect	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0011994	HP:0001631	Atrial septal defect	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0011994	HP:0001631	Atrial septal defect	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	10
HP:0011994	HP:0001631	Atrial septal defect	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0011994	HP:0001631	Atrial septal defect	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0011994	HP:0001631	Atrial septal defect	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0011994	HP:0001631	Atrial septal defect	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0011994	HP:0001631	Atrial septal defect	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	HP:0040283 - Occasional	53
HP:0011994	HP:0001631	Atrial septal defect	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0011994	HP:0001631	Atrial septal defect	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0011994	HP:0001631	Atrial septal defect	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0011994	HP:0001631	Atrial septal defect	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0011994	HP:0001631	Atrial septal defect	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0011994	HP:0001631	Atrial septal defect	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0011994	HP:0001631	Atrial septal defect	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0011994	HP:0001631	Atrial septal defect	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional	16
HP:0011994	HP:0001631	Atrial septal defect	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0011994	HP:0001631	Atrial septal defect	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0011994	HP:0001631	Atrial septal defect	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0011994	HP:0001631	Atrial septal defect	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0011994	HP:0001631	Atrial septal defect	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0011994	HP:0001631	Atrial septal defect	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0011994	HP:0001631	Atrial septal defect	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0011994	HP:0001631	Atrial septal defect	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0011994	HP:0001631	Atrial septal defect	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0011994	HP:0001631	Atrial septal defect	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0011994	HP:0001631	Atrial septal defect	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0011994	HP:0001631	Atrial septal defect	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0011994	HP:0001631	Atrial septal defect	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0011994	HP:0001631	Atrial septal defect	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0011994	HP:0001631	Atrial septal defect	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0011994	HP:0001631	Atrial septal defect	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0011994	HP:0001631	Atrial septal defect	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0011994	HP:0001631	Atrial septal defect	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0011994	HP:0001631	Atrial septal defect	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011994	HP:0001631	Atrial septal defect	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0011994	HP:0001631	Atrial septal defect	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0011994	HP:0001631	Atrial septal defect	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0011994	HP:0001631	Atrial septal defect	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0011994	HP:0001631	Atrial septal defect	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	228
HP:0011994	HP:0001631	Atrial septal defect	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0011994	HP:0001631	Atrial septal defect	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0011994	HP:0001631	Atrial septal defect	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0011994	HP:0001631	Atrial septal defect	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0011994	HP:0001631	Atrial septal defect	1	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:0011994	HP:0001631	Atrial septal defect	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0011994	HP:0001631	Atrial septal defect	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0011994	HP:0001631	Atrial septal defect	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0011994	HP:0001631	Atrial septal defect	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011994	HP:0001631	Atrial septal defect	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0011994	HP:0001631	Atrial septal defect	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0011994	HP:0001631	Atrial septal defect	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0011994	HP:0001631	Atrial septal defect	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0011994	HP:0001631	Atrial septal defect	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0011994	HP:0001631	Atrial septal defect	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0011994	HP:0001631	Atrial septal defect	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0011994	HP:0001631	Atrial septal defect	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0011994	HP:0001631	Atrial septal defect	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0011994	HP:0001631	Atrial septal defect	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011994	HP:0001631	Atrial septal defect	1	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3		452
HP:0011994	HP:0001631	Atrial septal defect	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent	1269
HP:0011994	HP:0001631	Atrial septal defect	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0011994	HP:0001631	Atrial septal defect	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0011994	HP:0001631	Atrial septal defect	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0011994	HP:0001631	Atrial septal defect	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0011994	HP:0001631	Atrial septal defect	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0011994	HP:0001631	Atrial septal defect	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	96
HP:0011994	HP:0001631	Atrial septal defect	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0011994	HP:0001631	Atrial septal defect	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0011994	HP:0001631	Atrial septal defect	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0011994	HP:0001631	Atrial septal defect	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.	9
HP:0011994	HP:0001631	Atrial septal defect	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0011994	HP:0001631	Atrial septal defect	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:0011994	HP:0001631	Atrial septal defect	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0011994	HP:0001631	Atrial septal defect	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	HP:0040284 - Very rare	20
HP:0011994	HP:0001631	Atrial septal defect	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0011994	HP:0001631	Atrial septal defect	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	117
HP:0011994	HP:0001631	Atrial septal defect	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	1
HP:0011994	HP:0001631	Atrial septal defect	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0011994	HP:0001631	Atrial septal defect	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0011994	HP:0001631	Atrial septal defect	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0011994	HP:0001631	Atrial septal defect	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0011994	HP:0001631	Atrial septal defect	1	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects		90
HP:0011994	HP:0001631	Atrial septal defect	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	90
HP:0011994	HP:0001631	Atrial septal defect	1	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3	HP:0040283 - Occasional	90
HP:0011994	HP:0001631	Atrial septal defect	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0011994	HP:0001631	Atrial septal defect	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0011994	HP:0001631	Atrial septal defect	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0011994	HP:0001631	Atrial septal defect	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0011994	HP:0001631	Atrial septal defect	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0011994	HP:0001631	Atrial septal defect	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0011994	HP:0001631	Atrial septal defect	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0011994	HP:0001631	Atrial septal defect	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0011994	HP:0001631	Atrial septal defect	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0011994	HP:0001631	Atrial septal defect	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0011994	HP:0001631	Atrial septal defect	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0011994	HP:0001631	Atrial septal defect	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0011994	HP:0001631	Atrial septal defect	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0011994	HP:0001631	Atrial septal defect	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0011994	HP:0001631	Atrial septal defect	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0011994	HP:0001631	Atrial septal defect	1	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:0011994	HP:0001631	Atrial septal defect	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0011994	HP:0001631	Atrial septal defect	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0011994	HP:0001631	Atrial septal defect	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0011994	HP:0001631	Atrial septal defect	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0011994	HP:0001631	Atrial septal defect	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0011994	HP:0001631	Atrial septal defect	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0011994	HP:0001631	Atrial septal defect	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0011994	HP:0001631	Atrial septal defect	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0011994	HP:0001631	Atrial septal defect	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0011994	HP:0001631	Atrial septal defect	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0011994	HP:0001631	Atrial septal defect	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0011994	HP:0001631	Atrial septal defect	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0011994	HP:0001631	Atrial septal defect	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011994	HP:0001631	Atrial septal defect	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0011994	HP:0001631	Atrial septal defect	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0011994	HP:0001631	Atrial septal defect	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0011994	HP:0001631	Atrial septal defect	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0011994	HP:0001631	Atrial septal defect	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0011994	HP:0001631	Atrial septal defect	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0011994	HP:0001631	Atrial septal defect	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0011994	HP:0001631	Atrial septal defect	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0011994	HP:0001631	Atrial septal defect	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0011994	HP:0001631	Atrial septal defect	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0011994	HP:0001631	Atrial septal defect	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0011994	HP:0001631	Atrial septal defect	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0011994	HP:0001631	Atrial septal defect	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011994	HP:0001631	Atrial septal defect	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011994	HP:0001631	Atrial septal defect	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011994	HP:0001631	Atrial septal defect	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0011994	HP:0001631	Atrial septal defect	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent	28
HP:0011994	HP:0001631	Atrial septal defect	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0011994	HP:0001631	Atrial septal defect	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent	28
HP:0011994	HP:0001631	Atrial septal defect	1	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0011994	HP:0001631	Atrial septal defect	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011994	HP:0001631	Atrial septal defect	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0011994	HP:0001631	Atrial septal defect	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0011994	HP:0001631	Atrial septal defect	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0011994	HP:0001631	Atrial septal defect	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0011994	HP:0001631	Atrial septal defect	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0011994	HP:0001631	Atrial septal defect	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0011994	HP:0001631	Atrial septal defect	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0011994	HP:0001631	Atrial septal defect	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0011994	HP:0001631	Atrial septal defect	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0011994	HP:0001631	Atrial septal defect	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0011994	HP:0001631	Atrial septal defect	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0011994	HP:0001631	Atrial septal defect	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0011994	HP:0001631	Atrial septal defect	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0011994	HP:0001631	Atrial septal defect	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0011994	HP:0001631	Atrial septal defect	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040281 - Very frequent	16
HP:0011994	HP:0001631	Atrial septal defect	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0011994	HP:0001631	Atrial septal defect	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	334
HP:0011994	HP:0001631	Atrial septal defect	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0011994	HP:0001631	Atrial septal defect	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0011994	HP:0001631	Atrial septal defect	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0011994	HP:0001631	Atrial septal defect	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0011994	HP:0001631	Atrial septal defect	1	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	HP:0040284 - Very rare
HP:0011994	HP:0001631	Atrial septal defect	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0011994	HP:0001631	Atrial septal defect	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0011994	HP:0001631	Atrial septal defect	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0011994	HP:0001631	Atrial septal defect	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0011994	HP:0001631	Atrial septal defect	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0011994	HP:0001631	Atrial septal defect	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0011994	HP:0001631	Atrial septal defect	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0011994	HP:0001631	Atrial septal defect	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16	.	1
HP:0011994	HP:0001631	Atrial septal defect	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0011994	HP:0001631	Atrial septal defect	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0011994	HP:0001631	Atrial septal defect	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0011994	HP:0001631	Atrial septal defect	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0011994	HP:0001631	Atrial septal defect	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0011994	HP:0001631	Atrial septal defect	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0011994	HP:0001631	Atrial septal defect	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4	.	5
HP:0011994	HP:0001631	Atrial septal defect	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0011994	HP:0001631	Atrial septal defect	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0011994	HP:0001631	Atrial septal defect	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0011994	HP:0001631	Atrial septal defect	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0011994	HP:0001631	Atrial septal defect	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0011994	HP:0001631	Atrial septal defect	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0011994	HP:0001631	Atrial septal defect	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0011994	HP:0001631	Atrial septal defect	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0011994	HP:0001631	Atrial septal defect	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0011994	HP:0001631	Atrial septal defect	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0011994	HP:0001631	Atrial septal defect	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0011994	HP:0001631	Atrial septal defect	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:0011994	HP:0001631	Atrial septal defect	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0011994	HP:0001631	Atrial septal defect	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0011994	HP:0001631	Atrial septal defect	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0011994	HP:0001631	Atrial septal defect	1	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0011994	HP:0001631	Atrial septal defect	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0011994	HP:0001631	Atrial septal defect	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0011994	HP:0001631	Atrial septal defect	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011994	HP:0001631	Atrial septal defect	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0011994	HP:0001631	Atrial septal defect	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011994	HP:0001631	Atrial septal defect	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0011994	HP:0001631	Atrial septal defect	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0011994	HP:0001631	Atrial septal defect	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0011994	HP:0001631	Atrial septal defect	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.	55
HP:0011994	HP:0001631	Atrial septal defect	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040283 - Occasional	55
HP:0011994	HP:0001631	Atrial septal defect	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0011994	HP:0001631	Atrial septal defect	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0011994	HP:0001631	Atrial septal defect	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0011994	HP:0001631	Atrial septal defect	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011994	HP:0001631	Atrial septal defect	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0011994	HP:0001631	Atrial septal defect	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0011994	HP:0001631	Atrial septal defect	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0011994	HP:0001631	Atrial septal defect	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0011994	HP:0001631	Atrial septal defect	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040282 - Frequent	146
HP:0011994	HP:0001631	Atrial septal defect	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0011994	HP:0001631	Atrial septal defect	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0011994	HP:0001631	Atrial septal defect	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0011994	HP:0001631	Atrial septal defect	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0011994	HP:0001631	Atrial septal defect	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0011994	HP:0001631	Atrial septal defect	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0011994	HP:0001631	Atrial septal defect	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0011994	HP:0001631	Atrial septal defect	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0011994	HP:0001631	Atrial septal defect	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0011994	HP:0001631	Atrial septal defect	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0011994	HP:0001631	Atrial septal defect	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0011994	HP:0001631	Atrial septal defect	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0011994	HP:0001631	Atrial septal defect	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0011994	HP:0001631	Atrial septal defect	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0011994	HP:0001631	Atrial septal defect	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0011994	HP:0001631	Atrial septal defect	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0011994	HP:0001631	Atrial septal defect	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0011994	HP:0001631	Atrial septal defect	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	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:0011994	HP:0001631	Atrial septal defect	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0011994	HP:0001631	Atrial septal defect	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0011994	HP:0001631	Atrial septal defect	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0011994	HP:0001631	Atrial septal defect	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare	138
HP:0011994	HP:0001631	Atrial septal defect	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0011994	HP:0001631	Atrial septal defect	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0011994	HP:0001631	Atrial septal defect	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0011994	HP:0001631	Atrial septal defect	1	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0011994	HP:0001631	Atrial septal defect	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0011994	HP:0001631	Atrial septal defect	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0011994	HP:0001631	Atrial septal defect	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional	6
HP:0011994	HP:0001631	Atrial septal defect	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0011994	HP:0001631	Atrial septal defect	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040283 - Occasional	34
HP:0011994	HP:0001631	Atrial septal defect	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0011994	HP:0001631	Atrial septal defect	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011994	HP:0001631	Atrial septal defect	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0011994	HP:0001631	Atrial septal defect	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0011994	HP:0001631	Atrial septal defect	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0011994	HP:0001631	Atrial septal defect	1	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4		20
HP:0011994	HP:0001631	Atrial septal defect	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040283 - Occasional	28
HP:0011994	HP:0001631	Atrial septal defect	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0011994	HP:0001631	Atrial septal defect	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent	123
HP:0011994	HP:0001631	Atrial septal defect	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0011994	HP:0001631	Atrial septal defect	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6
HP:0011994	HP:0001631	Atrial septal defect	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0011994	HP:0001631	Atrial septal defect	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0011994	HP:0001631	Atrial septal defect	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0011994	HP:0001631	Atrial septal defect	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.	4
HP:0011994	HP:0001631	Atrial septal defect	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent	4
HP:0011994	HP:0001631	Atrial septal defect	1	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6	.	6
HP:0011994	HP:0001631	Atrial septal defect	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0011994	HP:0001631	Atrial septal defect	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011994	HP:0001631	Atrial septal defect	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0011994	HP:0001631	Atrial septal defect	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0011994	HP:0001631	Atrial septal defect	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0011994	HP:0001631	Atrial septal defect	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2
HP:0011994	HP:0001631	Atrial septal defect	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0011994	HP:0001631	Atrial septal defect	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0011994	HP:0001631	Atrial septal defect	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0011994	HP:0001631	Atrial septal defect	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0011994	HP:0001631	Atrial septal defect	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0011994	HP:0001631	Atrial septal defect	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0011994	HP:0001631	Atrial septal defect	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011994	HP:0001631	Atrial septal defect	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	14
HP:0011994	HP:0001631	Atrial septal defect	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0011994	HP:0001631	Atrial septal defect	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0011994	HP:0001631	Atrial septal defect	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0011994	HP:0001631	Atrial septal defect	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0011994	HP:0001631	Atrial septal defect	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0011994	HP:0001631	Atrial septal defect	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0011994	HP:0001631	Atrial septal defect	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0011994	HP:0001631	Atrial septal defect	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	HP:0040283 - Occasional	135
HP:0011994	HP:0001631	Atrial septal defect	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	33
HP:0011994	HP:0001631	Atrial septal defect	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0011994	HP:0001631	Atrial septal defect	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0011994	HP:0001631	Atrial septal defect	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0011994	HP:0001631	Atrial septal defect	1	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:0011994	HP:0001631	Atrial septal defect	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0011994	HP:0001631	Atrial septal defect	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0011994	HP:0001631	Atrial septal defect	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0011994	HP:0001631	Atrial septal defect	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0011994	HP:0001631	Atrial septal defect	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001631	Atrial septal defect	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0011994	HP:0001631	Atrial septal defect	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0011994	HP:0001631	Atrial septal defect	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0011994	HP:0001631	Atrial septal defect	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0011994	HP:0001631	Atrial septal defect	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011994	HP:0001631	Atrial septal defect	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0011994	HP:0001631	Atrial septal defect	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0011994	HP:0001631	Atrial septal defect	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0011994	HP:0001631	Atrial septal defect	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5
HP:0011994	HP:0001631	Atrial septal defect	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0011994	HP:0001631	Atrial septal defect	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0011994	HP:0001631	Atrial septal defect	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0011994	HP:0001631	Atrial septal defect	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	10
HP:0011994	HP:0001631	Atrial septal defect	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0011994	HP:0001631	Atrial septal defect	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39
HP:0011994	HP:0001631	Atrial septal defect	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0011994	HP:0001631	Atrial septal defect	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0011994	HP:0001631	Atrial septal defect	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011994	HP:0001631	Atrial septal defect	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011994	HP:0031297	Unroofed coronary sinus	2	CL E G H
HP:0011994	HP:0011567	Sinus venosus atrial septal defect	2	CL E G H
HP:0011994	HP:0031017	Swiss cheese atrial septal defect	2	CL E G H
HP:0011994	HP:0001655	Patent foramen ovale	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0011994	HP:0001684	Secundum atrial septal defect	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0011994	HP:0001655	Patent foramen ovale	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0011994	HP:0001655	Patent foramen ovale	2	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:0011994	HP:0001655	Patent foramen ovale	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011994	HP:0001655	Patent foramen ovale	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare	68
HP:0011994	HP:0001655	Patent foramen ovale	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0011994	HP:0001655	Patent foramen ovale	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0011994	HP:0001655	Patent foramen ovale	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0011994	HP:0001655	Patent foramen ovale	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0011994	HP:0001655	Patent foramen ovale	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0011994	HP:0001684	Secundum atrial septal defect	2	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011994	HP:0001655	Patent foramen ovale	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0011994	HP:0001655	Patent foramen ovale	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0011994	HP:0001655	Patent foramen ovale	2	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional	572
HP:0011994	HP:0001655	Patent foramen ovale	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0011994	HP:0001655	Patent foramen ovale	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011994	HP:0001655	Patent foramen ovale	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011994	HP:0010445	Primum atrial septal defect	2	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0011994	HP:0001684	Secundum atrial septal defect	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011994	HP:0001655	Patent foramen ovale	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0011994	HP:0001655	Patent foramen ovale	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0011994	HP:0001655	Patent foramen ovale	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011994	HP:0001655	Patent foramen ovale	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0011994	HP:0001655	Patent foramen ovale	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011994	HP:0001655	Patent foramen ovale	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0011994	HP:0001655	Patent foramen ovale	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0011994	HP:0001655	Patent foramen ovale	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011994	HP:0001684	Secundum atrial septal defect	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011994	HP:0001655	Patent foramen ovale	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011994	HP:0001655	Patent foramen ovale	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0011994	HP:0001655	Patent foramen ovale	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0011994	HP:0001655	Patent foramen ovale	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011994	HP:0001655	Patent foramen ovale	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0011994	HP:0010445	Primum atrial septal defect	2	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0011994	HP:0001655	Patent foramen ovale	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0011994	HP:0001655	Patent foramen ovale	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0011994	HP:0001655	Patent foramen ovale	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0011994	HP:0001655	Patent foramen ovale	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0011994	HP:0001655	Patent foramen ovale	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0011994	HP:0001655	Patent foramen ovale	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0011994	HP:0001655	Patent foramen ovale	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0011994	HP:0001684	Secundum atrial septal defect	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0011994	HP:0001655	Patent foramen ovale	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0011994	HP:0010445	Primum atrial septal defect	2	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4	.	87
HP:0011994	HP:0001684	Secundum atrial septal defect	2	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9	.	37
HP:0011994	HP:0001655	Patent foramen ovale	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0011994	HP:0001655	Patent foramen ovale	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent	37
HP:0011994	HP:0001684	Secundum atrial septal defect	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0011994	HP:0010445	Primum atrial septal defect	2	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0011994	HP:0001655	Patent foramen ovale	2	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional	7
HP:0011994	HP:0001655	Patent foramen ovale	2	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:0011994	HP:0001655	Patent foramen ovale	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0011994	HP:0001684	Secundum atrial septal defect	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011994	HP:0001684	Secundum atrial septal defect	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011994	HP:0001655	Patent foramen ovale	2	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0011994	HP:0001684	Secundum atrial septal defect	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011994	HP:0001655	Patent foramen ovale	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome	.	6
HP:0011994	HP:0001684	Secundum atrial septal defect	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0011994	HP:0001655	Patent foramen ovale	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0011994	HP:0001655	Patent foramen ovale	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011994	HP:0001684	Secundum atrial septal defect	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0011994	HP:0001655	Patent foramen ovale	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	10
HP:0011994	HP:0001655	Patent foramen ovale	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0011994	HP:0001684	Secundum atrial septal defect	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0011994	HP:0001655	Patent foramen ovale	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0011994	HP:0001655	Patent foramen ovale	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0011994	HP:0001655	Patent foramen ovale	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0011994	HP:0001655	Patent foramen ovale	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0011994	HP:0001655	Patent foramen ovale	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0011994	HP:0001655	Patent foramen ovale	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0011994	HP:0001655	Patent foramen ovale	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0011994	HP:0001655	Patent foramen ovale	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0011994	HP:0001684	Secundum atrial septal defect	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0011994	HP:0001684	Secundum atrial septal defect	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011994	HP:0001655	Patent foramen ovale	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0011994	HP:0001655	Patent foramen ovale	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0011994	HP:0001655	Patent foramen ovale	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011994	HP:0001684	Secundum atrial septal defect	2	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3		452
HP:0011994	HP:0001655	Patent foramen ovale	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0011994	HP:0001684	Secundum atrial septal defect	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0011994	HP:0001655	Patent foramen ovale	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0011994	HP:0001655	Patent foramen ovale	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	96
HP:0011994	HP:0001655	Patent foramen ovale	2	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:0011994	HP:0001684	Secundum atrial septal defect	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.	1952
HP:0011994	HP:0001655	Patent foramen ovale	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0011994	HP:0001684	Secundum atrial septal defect	2	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	.	90
HP:0011994	HP:0001655	Patent foramen ovale	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0011994	HP:0001655	Patent foramen ovale	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0011994	HP:0001655	Patent foramen ovale	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0011994	HP:0001684	Secundum atrial septal defect	2	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0011994	HP:0001655	Patent foramen ovale	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0011994	HP:0001655	Patent foramen ovale	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0011994	HP:0001655	Patent foramen ovale	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.	24
HP:0011994	HP:0001684	Secundum atrial septal defect	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0011994	HP:0001655	Patent foramen ovale	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0011994	HP:0001655	Patent foramen ovale	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent	37
HP:0011994	HP:0001655	Patent foramen ovale	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0011994	HP:0001655	Patent foramen ovale	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0011994	HP:0001655	Patent foramen ovale	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0011994	HP:0001684	Secundum atrial septal defect	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0011994	HP:0001655	Patent foramen ovale	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011994	HP:0001655	Patent foramen ovale	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0011994	HP:0001684	Secundum atrial septal defect	2	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0011994	HP:0001655	Patent foramen ovale	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011994	HP:0001655	Patent foramen ovale	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0011994	HP:0001684	Secundum atrial septal defect	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0011994	HP:0001684	Secundum atrial septal defect	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	HP:0040283 - Occasional	22
HP:0011994	HP:0001655	Patent foramen ovale	2	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:0011994	HP:0001655	Patent foramen ovale	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0011994	HP:0001655	Patent foramen ovale	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	334
HP:0011994	HP:0001655	Patent foramen ovale	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0011994	HP:0001655	Patent foramen ovale	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0011994	HP:0001655	Patent foramen ovale	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0011994	HP:0001684	Secundum atrial septal defect	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0011994	HP:0001655	Patent foramen ovale	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0011994	HP:0001655	Patent foramen ovale	2	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:0011994	HP:0001655	Patent foramen ovale	2	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:0011994	HP:0001655	Patent foramen ovale	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0011994	HP:0001655	Patent foramen ovale	2	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0011994	HP:0001655	Patent foramen ovale	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0011994	HP:0001684	Secundum atrial septal defect	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0011994	HP:0001684	Secundum atrial septal defect	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011994	HP:0001655	Patent foramen ovale	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0011994	HP:0001655	Patent foramen ovale	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0011994	HP:0001655	Patent foramen ovale	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0011994	HP:0001655	Patent foramen ovale	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0011994	HP:0001655	Patent foramen ovale	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0011994	HP:0001655	Patent foramen ovale	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0011994	HP:0001655	Patent foramen ovale	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0011994	HP:0001655	Patent foramen ovale	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011994	HP:0001655	Patent foramen ovale	2	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4		20
HP:0011994	HP:0001684	Secundum atrial septal defect	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0011994	HP:0001655	Patent foramen ovale	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0011994	HP:0001655	Patent foramen ovale	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.	4
HP:0011994	HP:0001655	Patent foramen ovale	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional	4
HP:0011994	HP:0001655	Patent foramen ovale	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011994	HP:0001655	Patent foramen ovale	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0011994	HP:0001655	Patent foramen ovale	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0011994	HP:0001655	Patent foramen ovale	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0011994	HP:0001684	Secundum atrial septal defect	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0011994	HP:0001655	Patent foramen ovale	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0011994	HP:0001655	Patent foramen ovale	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0011994	HP:0001684	Secundum atrial septal defect	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011994	HP:0001655	Patent foramen ovale	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011994	HP:0010445	Primum atrial septal defect	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011994	HP:0001655	Patent foramen ovale	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0011994	HP:0001655	Patent foramen ovale	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0011994	HP:0001684	Secundum atrial septal defect	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0011994	HP:0001655	Patent foramen ovale	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0011994	HP:0001655	Patent foramen ovale	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0011994	HP:0001655	Patent foramen ovale	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0011994	HP:0001655	Patent foramen ovale	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0011994	HP:0001655	Patent foramen ovale	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011994	HP:0001655	Patent foramen ovale	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0011994	HP:0001655	Patent foramen ovale	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0011994	HP:0001655	Patent foramen ovale	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0011994	HP:0001655	Patent foramen ovale	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (477) :ABCD4 ABL1 ACADVL ACTA2 ACTC1 ADA2 ADAT3 ADK AFF4 AGGF1 AGO2 AHI1 ALG12 ALG9 AMER1 AMMECR1 ANAPC7 ANK1 APC2 ARHGAP31 ARID1A ARID1B ARID2 ARSL ARVCF ASCC1 ASXL1 ASXL2 ATIC ATN1 ATP2B1 ATP6V0A2 ATP6V1A ATP6V1E1 AUTS2 B3GALT6 B3GAT3 B3GLCT BAZ1B BBS2 BCL7B BCOR BCR BICRA BMP2 BMPR1A BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1 BUB1B BUB3 BUD23 C2CD3 CACNA1C CACNA1D CARS1 CCBE1 CCDC22 CDC42BPB CDC45 CDK10 CDK13 CDK8 CEP290 CEP57 CFAP45 CHD4 CHD7 CHMP1A CHRM3 CHST14 CHST3 CIROP CITED2 CLCN3 CLIP2 COG1 COG6 COL11A1 COL1A1 COL1A2 COMT COX7B CPE CPLX1 CREBBP CRKL CSGALNACT1 CTBP1 CTCF CTU2 CUL3 CYP27A1 DACT1 DDX6 DEF6 DHCR7 DLK1 DNAJC30 DNMT3A DOHH DPF2 DPH1 DPH5 DSE DVL3 DYNC2LI1 ECE1 EFTUD2 EIF2AK3 EIF4H ELN EOGT EP300 EPG5 EPHB4 ERCC4 ESCO2 EVC EVC2 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN2 FBXW11 FGF13 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP6 FKTN FLCN FLNA FLNB FOCAD FOXC1 FOXF1 FRMD5 FTCD G6PC3 GATA1 GATA4 GATA5 GATA6 GDF1 GJA1 GJA5 GJA8 GLI1 GLI3 GNB5 GNPTAB GP1BB GPC3 GPC4 GPC6 GPX4 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B H4C3 H4C9 HAAO HACD1 HCCS HDAC8 HEATR3 HIRA HNRNPH2 HNRNPK HRAS HSPA9 IDH1 IFT172 IGF1R INSR IPO8 IRX5 JAG1 JMJD1C KANSL1 KAT6A KAT6B KAT8 KATNB1 KCNH1 KDM1A KDM5B KDM6A KIAA0586 KIF11 KIF15 KMT2D KRAS LAMA5 LARP7 LETM1 LIMK1 LMBRD1 LMNA LMNB1 LONP1 LTBP4 LZTR1 MAD2L2 MAGEL2 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPKAPK5 MASP1 MED12 MED13L MED23 MED25 MEG3 MEGF8 MEIS2 METTL27 METTL5 MID1 MKKS MLXIPL MMP14 MMP2 MMP21 MOGS MRAS MRPL3 MTX2 MYH6 MYH7 MYOCD MYRF NAA10 NCAPG2 NCF1 NDE1 NDUFB11 NDUFB7 NEK1 NEK9 NELFA NF1 NFE2L2 NFIX NIPA1 NIPA2 NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NODAL NONO NOTCH1 NOTCH2 NPHP3 NR2F2 NSD1 NSD2 NXN OCLN OTUD6B PACS1 PALB2 PAX3 PCGF2 PCNT PEX19 PGAP1 PHGDH PIEZO1 PIGA PIGF PIGG PIGN PIGO PIGT PIK3R2 PKDCC PLD1 PLXND1 POGZ POLA1 POLR3A POR PPFIBP1 PPP1CB PPP1R21 PPP2R5D PQBP1 PRDM13 PRIM1 PRKACA PRKACB PRR12 PRRX1 PTEN PTF1A PTPN11 RAB23 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RBM10 RBM8A RELN RERE RFC2 RFWD3 RIPK4 RIT1 RNU4ATAC ROBO4 ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSPRY1 RTL1 SALL1 SALL4 SCUBE3 SDHD SEC24C SETBP1 SETD1A SETD2 SH2B1 SH3PXD2B SHMT2 SHOC2 SIAH1 SIK3 SKIC2 SKIC3 SLC19A2 SLC25A24 SLC29A3 SLC35A2 SLC38A3 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMN1 SNRPB SNRPN SNX14 SON SOS1 SOX11 SOX4 SPATA5 SPECC1L SRCAP STAG2 STAMBP STAT1 STK4 STRA6 STRADA STX1A SUCLG1 SYT1 TALDO1 TASP1 TBC1D24 TBL2 TBX1 TBX2 TBX20 TBX22 TBX4 TBX5 TGDS TGFB3 TGFBR1 TGFBR2 THOC6 TKT TLL1 TMCO1 TMEM147 TMEM260 TMEM270 TMEM94 TOM1 TRAIP TRIO TRIP13 TRIP4 TRRAP TSFM TSR2 TTC26 TUBG1 TXNL4A UBE2A UBE2T UBE3B UBR1 UBR7 UFD1 UMPS UPF3B UQCRC2 USP18 USP9X VAC14 VPS33A VPS33B VPS37D WASHC5 WDR35 WDR37 WLS WT1 XRCC2 XYLT2 YY1 ZBTB7A ZDHHC9 ZEB2 ZIC3 ZMPSTE24 ZMYM2 ZNF699

Diseases (436) :OMIM:614857 OMIM:617602 ORPHA:26793 OMIM:613834 OMIM:612794 OMIM:612098 ORPHA:124 ORPHA:363528 OMIM:614300 OMIM:616368 ORPHA:444077 ORPHA:90308 OMIM:619149 OMIM:608629 ORPHA:79324 OMIM:607143 ORPHA:79328 OMIM:300373 OMIM:300990 OMIM:619699 ORPHA:251066 ORPHA:821 OMIM:100300 ORPHA:1465 OMIM:135900 OMIM:617808 ORPHA:79345 ORPHA:567 OMIM:616867 OMIM:605039 OMIM:617190 OMIM:608688 OMIM:618494 OMIM:619910 ORPHA:2834 OMIM:278250 OMIM:617403 OMIM:617402 ORPHA:352490 OMIM:271640 OMIM:245600 OMIM:261540 ORPHA:904 OMIM:615981 OMIM:300166 ORPHA:261330 OMIM:619325 ORPHA:261295 ORPHA:79076 ORPHA:1340 OMIM:115150 OMIM:163950 OMIM:613706 ORPHA:84 ORPHA:199 ORPHA:1052 OMIM:257300 OMIM:615948 OMIM:601005 OMIM:615474 OMIM:618891 OMIM:235510 ORPHA:7 OMIM:300963 OMIM:619841 OMIM:617063 OMIM:617694 OMIM:617360 OMIM:618748 OMIM:611134 OMIM:614114 OMIM:619608 OMIM:617159 OMIM:214800 OMIM:614961 ORPHA:2970 OMIM:601776 OMIM:619702 OMIM:614433 OMIM:619512 ORPHA:263508 OMIM:614576 OMIM:228520 OMIM:619115 ORPHA:230851 OMIM:300887 OMIM:309801 OMIM:619326 ORPHA:280 OMIM:194190 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:618870 ORPHA:363611 OMIM:615502 OMIM:618142 OMIM:619239 ORPHA:909 ORPHA:857 OMIM:618653 OMIM:619573 ORPHA:818 OMIM:270400 ORPHA:96334 ORPHA:404443 OMIM:615879 OMIM:620066 OMIM:618027 ORPHA:459061 OMIM:620070 OMIM:615539 OMIM:616894 ORPHA:289 OMIM:613870 OMIM:610536 ORPHA:79113 ORPHA:1667 OMIM:194050 OMIM:615297 ORPHA:353284 OMIM:242840 OMIM:617300 OMIM:615272 OMIM:268300 OMIM:225500 ORPHA:466926 OMIM:603467 OMIM:609053 OMIM:121050 OMIM:618914 OMIM:301058 OMIM:613001 OMIM:207410 ORPHA:1860 ORPHA:93274 OMIM:216340 ORPHA:3472 OMIM:253800 OMIM:610883 ORPHA:88630 OMIM:150250 OMIM:619991 OMIM:602482 OMIM:265380 ORPHA:210122 OMIM:620094 ORPHA:51208 OMIM:612541 OMIM:190685 OMIM:607941 OMIM:614430 OMIM:614429 OMIM:617912 OMIM:614475 OMIM:600001 ORPHA:2255 OMIM:613854 OMIM:208530 OMIM:600309 ORPHA:2248 OMIM:164200 OMIM:612474 ORPHA:672 ORPHA:542306 OMIM:617182 ORPHA:576 ORPHA:373 OMIM:312870 OMIM:258315 OMIM:250220 OMIM:619720 OMIM:619721 OMIM:619758 OMIM:619951 OMIM:617660 OMIM:619967 OMIM:620072 OMIM:300986 ORPHA:352665 ORPHA:453504 OMIM:218040 OMIM:616854 ORPHA:99646 OMIM:619471 OMIM:270450 ORPHA:769 OMIM:619472 OMIM:611174 OMIM:118450 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:606170 ORPHA:85201 OMIM:618974 ORPHA:89844 OMIM:611816 ORPHA:477993 OMIM:618109 OMIM:147920 OMIM:300867 OMIM:616546 ORPHA:2526 ORPHA:261323 OMIM:609942 OMIM:600268 OMIM:620076 ORPHA:319671 OMIM:277380 ORPHA:1662 OMIM:619179 OMIM:600373 OMIM:613177 OMIM:616564 OMIM:605275 ORPHA:398069 OMIM:615279 OMIM:157800 OMIM:617137 OMIM:619087 OMIM:619869 OMIM:257920 ORPHA:93932 OMIM:301068 OMIM:309520 ORPHA:776 ORPHA:369891 OMIM:616789 OMIM:614249 ORPHA:464738 OMIM:614976 ORPHA:261190 OMIM:600987 OMIM:618665 ORPHA:2745 ORPHA:2473 ORPHA:371428 OMIM:616749 ORPHA:79330 OMIM:618499 OMIM:614582 OMIM:619127 OMIM:614089 ORPHA:1880 OMIM:618719 OMIM:618280 OMIM:300855 OMIM:618460 OMIM:620135 OMIM:263520 OMIM:614262 ORPHA:363700 OMIM:601321 OMIM:617744 OMIM:602535 ORPHA:261183 OMIM:301039 ORPHA:209905 OMIM:610978 OMIM:108900 OMIM:614432 ORPHA:3384 OMIM:270100 ORPHA:466791 OMIM:300967 OMIM:616028 OMIM:610205 OMIM:267010 OMIM:208540 OMIM:618901 OMIM:117550 ORPHA:1507 OMIM:251290 ORPHA:505237 OMIM:617452 ORPHA:329224 OMIM:615009 ORPHA:896 OMIM:618371 ORPHA:2637 OMIM:614886 OMIM:615802 OMIM:256520 OMIM:616843 OMIM:300868 OMIM:619356 ORPHA:280633 OMIM:614080 OMIM:614749 ORPHA:369837 OMIM:603387 OMIM:618821 OMIM:212093 OMIM:616364 OMIM:301030 OMIM:264090 OMIM:620024 OMIM:617506 OMIM:619383 ORPHA:457279 ORPHA:93946 OMIM:309500 ORPHA:93947 OMIM:619909 OMIM:620005 OMIM:619539 OMIM:202650 OMIM:609069 OMIM:201000 ORPHA:500159 OMIM:611553 ORPHA:477817 ORPHA:2886 OMIM:274000 OMIM:616975 OMIM:263650 OMIM:615355 OMIM:210710 OMIM:618496 OMIM:300998 ORPHA:459070 OMIM:612562 OMIM:617408 OMIM:619371 OMIM:612561 OMIM:612527 OMIM:105650 ORPHA:457395 OMIM:107480 OMIM:607323 OMIM:619184 OMIM:619167 OMIM:269150 OMIM:618832 ORPHA:261197 OMIM:249420 OMIM:619121 OMIM:607721 OMIM:619314 OMIM:618162 ORPHA:84064 OMIM:249270 ORPHA:49827 OMIM:612289 OMIM:602782 OMIM:300896 OMIM:619881 OMIM:619657 OMIM:613795 OMIM:139210 ORPHA:2728 OMIM:616938 OMIM:301044 OMIM:610759 OMIM:619268 OMIM:253300 OMIM:117650 ORPHA:177907 ORPHA:397709 ORPHA:500150 OMIM:617140 OMIM:610733 ORPHA:457351 OMIM:145420 ORPHA:1519 OMIM:136140 ORPHA:2044 OMIM:301043 OMIM:614261 ORPHA:391487 OMIM:614868 OMIM:601186 OMIM:611087 ORPHA:500533 ORPHA:17 ORPHA:522077 OMIM:606003 ORPHA:101028 OMIM:618950 OMIM:220500 OMIM:618223 OMIM:611363 ORPHA:921 ORPHA:261279 OMIM:142900 ORPHA:392 ORPHA:1388 OMIM:615582 OMIM:609192 OMIM:610168 ORPHA:363444 OMIM:617044 ORPHA:488618 OMIM:613087 OMIM:213980 OMIM:620075 OMIM:617478 OMIM:618316 OMIM:616777 OMIM:617061 OMIM:616866 OMIM:618454 OMIM:610505 OMIM:619534 OMIM:608572 ORPHA:163956 OMIM:244450 OMIM:243800 OMIM:619189 OMIM:258900 OMIM:615160 OMIM:617397 OMIM:300968 ORPHA:480880 ORPHA:505248 OMIM:617303 OMIM:208085 OMIM:220210 OMIM:613610 OMIM:618652 OMIM:619648 ORPHA:3097 OMIM:608978 OMIM:605822 ORPHA:506358 OMIM:617557 OMIM:619769 OMIM:235730 OMIM:306955 OMIM:275210 OMIM:619522 OMIM:619488

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

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