Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease			87
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot			87
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations			37
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot			37
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot			257
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations			90
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot			90
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot			31
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011545	HP:0011545	Abnormal connection of the cardiac segments	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease			87
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot			87
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations			37
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot			37
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot			257
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations			90
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot			90
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot			31
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011545	HP:0011546	Abnormal atrioventricular connection	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011545	HP:0011563	Abnormal ventriculoarterial connection	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011545	HP:0011552	Ambiguous atrioventricular connection	2	CL E G H
HP:0011545	HP:0011562	Straddling atrioventricular valve	2	CL E G H
HP:0011545	HP:0011561	Overriding atrioventricular valve	2	CL E G H
HP:0011545	HP:0011548	Absent right sided atrioventricular connection	2	CL E G H
HP:0011545	HP:0011547	Absent left sided atrioventricular connection	2	CL E G H
HP:0011545	HP:0001669	Transposition of the great arteries	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0011545	HP:0001710	Conotruncal defect	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011545	HP:0001710	Conotruncal defect	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011545	HP:0001710	Conotruncal defect	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011545	HP:0001710	Conotruncal defect	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011545	HP:0001710	Conotruncal defect	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011545	HP:0001710	Conotruncal defect	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011545	HP:0001710	Conotruncal defect	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011545	HP:0001710	Conotruncal defect	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011545	HP:0001710	Conotruncal defect	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0011545	HP:0001669	Transposition of the great arteries	2	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011545	HP:0001710	Conotruncal defect	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011545	HP:0001710	Conotruncal defect	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0011545	HP:0001710	Conotruncal defect	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011545	HP:0001669	Transposition of the great arteries	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0011545	HP:0001710	Conotruncal defect	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011545	HP:0001710	Conotruncal defect	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0011545	HP:0001710	Conotruncal defect	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0011545	HP:0001710	Conotruncal defect	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0011545	HP:0001710	Conotruncal defect	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0011545	HP:0001710	Conotruncal defect	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011545	HP:0001669	Transposition of the great arteries	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0011545	HP:0001710	Conotruncal defect	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0011545	HP:0001710	Conotruncal defect	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011545	HP:0001669	Transposition of the great arteries	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0011545	HP:0001710	Conotruncal defect	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0011545	HP:0001669	Transposition of the great arteries	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0011545	HP:0001710	Conotruncal defect	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0011545	HP:0001669	Transposition of the great arteries	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0011545	HP:0001710	Conotruncal defect	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011545	HP:0001669	Transposition of the great arteries	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0011545	HP:0001710	Conotruncal defect	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011545	HP:0011560	Mitral atresia	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional		7
HP:0011545	HP:0001710	Conotruncal defect	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011545	HP:0001710	Conotruncal defect	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0011545	HP:0001710	Conotruncal defect	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001669	Transposition of the great arteries	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001669	Transposition of the great arteries	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001669	Transposition of the great arteries	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001669	Transposition of the great arteries	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal	.		17
HP:0011545	HP:0001710	Conotruncal defect	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0011545	HP:0001669	Transposition of the great arteries	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0011545	HP:0001710	Conotruncal defect	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0011545	HP:0001710	Conotruncal defect	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0011545	HP:0001710	Conotruncal defect	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011545	HP:0001710	Conotruncal defect	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0011545	HP:0001710	Conotruncal defect	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0011545	HP:0001710	Conotruncal defect	2	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0011545	HP:0001710	Conotruncal defect	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011545	HP:0011554	Double inlet atrioventricular connection	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011545	HP:0011553	Discordant atrioventricular connection	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011545	HP:0001669	Transposition of the great arteries	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011545	HP:0001710	Conotruncal defect	2	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0011545	HP:0001710	Conotruncal defect	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0011545	HP:0001710	Conotruncal defect	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0011545	HP:0001710	Conotruncal defect	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0011545	HP:0001710	Conotruncal defect	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0011545	HP:0001710	Conotruncal defect	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0011545	HP:0001710	Conotruncal defect	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0011545	HP:0001710	Conotruncal defect	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0011545	HP:0001710	Conotruncal defect	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0011545	HP:0001710	Conotruncal defect	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0011545	HP:0001710	Conotruncal defect	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011545	HP:0001710	Conotruncal defect	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0011545	HP:0001710	Conotruncal defect	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0011545	HP:0001710	Conotruncal defect	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0011545	HP:0001710	Conotruncal defect	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0011545	HP:0001710	Conotruncal defect	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001710	Conotruncal defect	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0011545	HP:0001710	Conotruncal defect	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0011545	HP:0001710	Conotruncal defect	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0011545	HP:0001710	Conotruncal defect	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0011545	HP:0001710	Conotruncal defect	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0011545	HP:0001710	Conotruncal defect	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0011545	HP:0001710	Conotruncal defect	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0011545	HP:0001710	Conotruncal defect	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011545	HP:0001669	Transposition of the great arteries	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0011545	HP:0001710	Conotruncal defect	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0011545	HP:0001710	Conotruncal defect	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011545	HP:0001710	Conotruncal defect	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0011545	HP:0001669	Transposition of the great arteries	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0011545	HP:0001710	Conotruncal defect	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011545	HP:0001710	Conotruncal defect	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0011545	HP:0001710	Conotruncal defect	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0011545	HP:0001710	Conotruncal defect	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011545	HP:0001710	Conotruncal defect	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011545	HP:0001710	Conotruncal defect	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0011545	HP:0001710	Conotruncal defect	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0011545	HP:0001710	Conotruncal defect	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0011545	HP:0001669	Transposition of the great arteries	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.		58
HP:0011545	HP:0001710	Conotruncal defect	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0011545	HP:0001710	Conotruncal defect	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0011545	HP:0001710	Conotruncal defect	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0011545	HP:0001710	Conotruncal defect	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0011545	HP:0001710	Conotruncal defect	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0011545	HP:0001710	Conotruncal defect	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0011545	HP:0001710	Conotruncal defect	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0011545	HP:0001710	Conotruncal defect	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0011545	HP:0001710	Conotruncal defect	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0011545	HP:0001710	Conotruncal defect	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0011545	HP:0001710	Conotruncal defect	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011545	HP:0001710	Conotruncal defect	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0011545	HP:0001710	Conotruncal defect	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011545	HP:0001669	Transposition of the great arteries	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0011545	HP:0001710	Conotruncal defect	2	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0011545	HP:0001710	Conotruncal defect	2	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0011545	HP:0001710	Conotruncal defect	2	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0011545	HP:0001710	Conotruncal defect	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0011545	HP:0001710	Conotruncal defect	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0011545	HP:0001710	Conotruncal defect	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0011545	HP:0001710	Conotruncal defect	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001669	Transposition of the great arteries	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011545	HP:0001710	Conotruncal defect	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0011545	HP:0001669	Transposition of the great arteries	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0011545	HP:0001710	Conotruncal defect	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0011545	HP:0001669	Transposition of the great arteries	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0011545	HP:0001710	Conotruncal defect	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0011545	HP:0001710	Conotruncal defect	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0011545	HP:0001669	Transposition of the great arteries	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0011545	HP:0001710	Conotruncal defect	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0011545	HP:0001710	Conotruncal defect	2	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease			87
HP:0011545	HP:0001710	Conotruncal defect	2	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0011545	HP:0001710	Conotruncal defect	2	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot			87
HP:0011545	HP:0001710	Conotruncal defect	2	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0011545	HP:0001710	Conotruncal defect	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0011545	HP:0001710	Conotruncal defect	2	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0011545	HP:0001669	Transposition of the great arteries	2	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.		37
HP:0011545	HP:0001710	Conotruncal defect	2	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations			37
HP:0011545	HP:0001669	Transposition of the great arteries	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.		37
HP:0011545	HP:0001710	Conotruncal defect	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0011545	HP:0001710	Conotruncal defect	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0011545	HP:0001669	Transposition of the great arteries	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0011545	HP:0001710	Conotruncal defect	2	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot			37
HP:0011545	HP:0001710	Conotruncal defect	2	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0011545	HP:0001710	Conotruncal defect	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0011545	HP:0001669	Transposition of the great arteries	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0011545	HP:0001669	Transposition of the great arteries	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0011545	HP:0001710	Conotruncal defect	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0011545	HP:0001710	Conotruncal defect	2	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0011545	HP:0011560	Mitral atresia	2	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		68
HP:0011545	HP:0001669	Transposition of the great arteries	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		39
HP:0011545	HP:0001710	Conotruncal defect	2	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0011545	HP:0001669	Transposition of the great arteries	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		34
HP:0011545	HP:0001710	Conotruncal defect	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0011545	HP:0011560	Mitral atresia	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011545	HP:0001710	Conotruncal defect	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011545	HP:0001669	Transposition of the great arteries	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011545	HP:0001710	Conotruncal defect	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0011545	HP:0001669	Transposition of the great arteries	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011545	HP:0001669	Transposition of the great arteries	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011545	HP:0001710	Conotruncal defect	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0001710	Conotruncal defect	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0001710	Conotruncal defect	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0001710	Conotruncal defect	2	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0011545	HP:0001710	Conotruncal defect	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0011545	HP:0001710	Conotruncal defect	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0011545	HP:0001710	Conotruncal defect	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0011545	HP:0001710	Conotruncal defect	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0011545	HP:0001710	Conotruncal defect	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011545	HP:0001669	Transposition of the great arteries	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0011545	HP:0001710	Conotruncal defect	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011545	HP:0001710	Conotruncal defect	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0011545	HP:0001710	Conotruncal defect	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011545	HP:0001710	Conotruncal defect	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0011545	HP:0001710	Conotruncal defect	2	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0011545	HP:0001710	Conotruncal defect	2	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot			257
HP:0011545	HP:0001710	Conotruncal defect	2	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0011545	HP:0001710	Conotruncal defect	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0011545	HP:0001710	Conotruncal defect	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011545	HP:0001710	Conotruncal defect	2	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0011545	HP:0001710	Conotruncal defect	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011545	HP:0001669	Transposition of the great arteries	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0011545	HP:0001710	Conotruncal defect	2	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0011545	HP:0001669	Transposition of the great arteries	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001710	Conotruncal defect	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0011545	HP:0011554	Double inlet atrioventricular connection	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011545	HP:0001710	Conotruncal defect	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011545	HP:0001669	Transposition of the great arteries	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0011545	HP:0001710	Conotruncal defect	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0011545	HP:0011560	Mitral atresia	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional		3
HP:0011545	HP:0001710	Conotruncal defect	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011545	HP:0001669	Transposition of the great arteries	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	HP:0040283 - Occasional		74
HP:0011545	HP:0001669	Transposition of the great arteries	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0011545	HP:0001710	Conotruncal defect	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0001710	Conotruncal defect	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0011545	HP:0001710	Conotruncal defect	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011545	HP:0001710	Conotruncal defect	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0011545	HP:0001710	Conotruncal defect	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0011545	HP:0011560	Mitral atresia	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0011545	HP:0001669	Transposition of the great arteries	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0011545	HP:0001710	Conotruncal defect	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0011545	HP:0001710	Conotruncal defect	2	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0011545	HP:0001710	Conotruncal defect	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011545	HP:0001710	Conotruncal defect	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001669	Transposition of the great arteries	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0011545	HP:0001710	Conotruncal defect	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0011545	HP:0001710	Conotruncal defect	2	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0011545	HP:0001669	Transposition of the great arteries	2	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.		90
HP:0011545	HP:0001710	Conotruncal defect	2	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations			90
HP:0011545	HP:0011560	Mitral atresia	2	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		90
HP:0011545	HP:0011560	Mitral atresia	2	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.		90
HP:0011545	HP:0001710	Conotruncal defect	2	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot			90
HP:0011545	HP:0001710	Conotruncal defect	2	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0011545	HP:0001710	Conotruncal defect	2	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations			3
HP:0011545	HP:0001669	Transposition of the great arteries	2	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.		3
HP:0011545	HP:0001710	Conotruncal defect	2	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0011545	HP:0001710	Conotruncal defect	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0011545	HP:0001669	Transposition of the great arteries	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040284 - Very rare		3
HP:0011545	HP:0001710	Conotruncal defect	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0011545	HP:0001669	Transposition of the great arteries	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0011545	HP:0011554	Double inlet atrioventricular connection	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0011545	HP:0001669	Transposition of the great arteries	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0011545	HP:0001710	Conotruncal defect	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0011545	HP:0001710	Conotruncal defect	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0011545	HP:0001710	Conotruncal defect	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011545	HP:0011560	Mitral atresia	2	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare		452
HP:0011545	HP:0001710	Conotruncal defect	2	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0011545	HP:0001710	Conotruncal defect	2	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0011545	HP:0001710	Conotruncal defect	2	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0011545	HP:0001710	Conotruncal defect	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011545	HP:0001710	Conotruncal defect	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001669	Transposition of the great arteries	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001669	Transposition of the great arteries	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001669	Transposition of the great arteries	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001669	Transposition of the great arteries	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001710	Conotruncal defect	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0011545	HP:0001669	Transposition of the great arteries	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0011545	HP:0001710	Conotruncal defect	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011545	HP:0001710	Conotruncal defect	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0011545	HP:0001710	Conotruncal defect	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0011545	HP:0001710	Conotruncal defect	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0011545	HP:0001710	Conotruncal defect	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011545	HP:0001669	Transposition of the great arteries	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0011545	HP:0001710	Conotruncal defect	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0011545	HP:0001669	Transposition of the great arteries	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent		36
HP:0011545	HP:0001710	Conotruncal defect	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0011545	HP:0001669	Transposition of the great arteries	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0011545	HP:0001710	Conotruncal defect	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0011545	HP:0001710	Conotruncal defect	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0011545	HP:0001710	Conotruncal defect	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0011545	HP:0011554	Double inlet atrioventricular connection	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0011545	HP:0001710	Conotruncal defect	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0011545	HP:0001669	Transposition of the great arteries	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011545	HP:0001710	Conotruncal defect	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011545	HP:0001710	Conotruncal defect	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0011545	HP:0001710	Conotruncal defect	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0011545	HP:0001710	Conotruncal defect	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0011545	HP:0001669	Transposition of the great arteries	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011545	HP:0001710	Conotruncal defect	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011545	HP:0001669	Transposition of the great arteries	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011545	HP:0001710	Conotruncal defect	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0011545	HP:0001710	Conotruncal defect	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0011545	HP:0001710	Conotruncal defect	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0011545	HP:0001710	Conotruncal defect	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0011545	HP:0001710	Conotruncal defect	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0011545	HP:0001710	Conotruncal defect	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0011545	HP:0001710	Conotruncal defect	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0011545	HP:0001710	Conotruncal defect	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011545	HP:0001710	Conotruncal defect	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011545	HP:0001710	Conotruncal defect	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011545	HP:0001710	Conotruncal defect	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011545	HP:0001710	Conotruncal defect	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011545	HP:0001710	Conotruncal defect	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011545	HP:0001669	Transposition of the great arteries	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0011545	HP:0001710	Conotruncal defect	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0011545	HP:0001710	Conotruncal defect	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0011545	HP:0001710	Conotruncal defect	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0011545	HP:0001710	Conotruncal defect	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0011545	HP:0001710	Conotruncal defect	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011545	HP:0001669	Transposition of the great arteries	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0011545	HP:0001710	Conotruncal defect	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0011545	HP:0001669	Transposition of the great arteries	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0011545	HP:0001710	Conotruncal defect	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0011545	HP:0001710	Conotruncal defect	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0011545	HP:0001669	Transposition of the great arteries	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0011545	HP:0001669	Transposition of the great arteries	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0011545	HP:0001710	Conotruncal defect	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011545	HP:0001710	Conotruncal defect	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0011545	HP:0001710	Conotruncal defect	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0011545	HP:0001710	Conotruncal defect	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0011545	HP:0001710	Conotruncal defect	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0011545	HP:0001710	Conotruncal defect	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011545	HP:0001710	Conotruncal defect	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0011545	HP:0001710	Conotruncal defect	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011545	HP:0001710	Conotruncal defect	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0011545	HP:0001710	Conotruncal defect	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0011545	HP:0001710	Conotruncal defect	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0011545	HP:0001710	Conotruncal defect	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011545	HP:0001710	Conotruncal defect	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011545	HP:0001710	Conotruncal defect	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011545	HP:0001710	Conotruncal defect	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011545	HP:0001710	Conotruncal defect	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0011545	HP:0001710	Conotruncal defect	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0011545	HP:0001710	Conotruncal defect	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0011545	HP:0001669	Transposition of the great arteries	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0011545	HP:0001710	Conotruncal defect	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0011545	HP:0001710	Conotruncal defect	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011545	HP:0001710	Conotruncal defect	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011545	HP:0001710	Conotruncal defect	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011545	HP:0001710	Conotruncal defect	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011545	HP:0001669	Transposition of the great arteries	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011545	HP:0001710	Conotruncal defect	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011545	HP:0001710	Conotruncal defect	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0011545	HP:0001669	Transposition of the great arteries	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0011545	HP:0001710	Conotruncal defect	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011545	HP:0001669	Transposition of the great arteries	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0011545	HP:0001710	Conotruncal defect	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0011545	HP:0001710	Conotruncal defect	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011545	HP:0001710	Conotruncal defect	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011545	HP:0001710	Conotruncal defect	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0011545	HP:0001710	Conotruncal defect	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0011545	HP:0001669	Transposition of the great arteries	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0011545	HP:0001710	Conotruncal defect	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0011545	HP:0001710	Conotruncal defect	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0011545	HP:0001710	Conotruncal defect	2	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0011545	HP:0001710	Conotruncal defect	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011545	HP:0001710	Conotruncal defect	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0011545	HP:0001669	Transposition of the great arteries	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0011545	HP:0001710	Conotruncal defect	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0011545	HP:0001710	Conotruncal defect	2	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations			32
HP:0011545	HP:0001669	Transposition of the great arteries	2	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.		32
HP:0011545	HP:0001710	Conotruncal defect	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0011545	HP:0001710	Conotruncal defect	2	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot			32
HP:0011545	HP:0001710	Conotruncal defect	2	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0011545	HP:0001710	Conotruncal defect	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0011545	HP:0001710	Conotruncal defect	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011545	HP:0001710	Conotruncal defect	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0011545	HP:0001710	Conotruncal defect	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0011545	HP:0001710	Conotruncal defect	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0011545	HP:0001710	Conotruncal defect	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011545	HP:0001710	Conotruncal defect	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0011545	HP:0001710	Conotruncal defect	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0011545	HP:0001669	Transposition of the great arteries	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001710	Conotruncal defect	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0011545	HP:0001710	Conotruncal defect	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011545	HP:0001710	Conotruncal defect	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0011545	HP:0001710	Conotruncal defect	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0011545	HP:0001710	Conotruncal defect	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011545	HP:0001710	Conotruncal defect	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011545	HP:0001710	Conotruncal defect	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0011545	HP:0001710	Conotruncal defect	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0011545	HP:0001669	Transposition of the great arteries	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0011545	HP:0001710	Conotruncal defect	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0011545	HP:0001669	Transposition of the great arteries	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0011545	HP:0001710	Conotruncal defect	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0011545	HP:0001710	Conotruncal defect	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0011545	HP:0001710	Conotruncal defect	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0011545	HP:0001710	Conotruncal defect	2	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0011545	HP:0001710	Conotruncal defect	2	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot			31
HP:0011545	HP:0001710	Conotruncal defect	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0011545	HP:0011560	Mitral atresia	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0011545	HP:0001669	Transposition of the great arteries	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011545	HP:0001710	Conotruncal defect	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011545	HP:0001669	Transposition of the great arteries	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.		39
HP:0011545	HP:0001669	Transposition of the great arteries	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0011545	HP:0001669	Transposition of the great arteries	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0011545	HP:0001710	Conotruncal defect	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011545	HP:0001669	Transposition of the great arteries	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011545	HP:0011551	Right sided atrium to left ventricle and absent left sided atrioventricular connection	3	CL E G H
HP:0011545	HP:0031349	Levotransposition of the great arteries	3	CL E G H
HP:0011545	HP:0011550	Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection	3	CL E G H
HP:0011545	HP:0011549	Univentricular heart with absent left sided atrioventricular connection	3	CL E G H
HP:0011545	HP:0011557	Double inlet to single ventricle of indeterminate morphology	3	CL E G H
HP:0011545	HP:0031348	Dextrotransposition of the great arteries	3	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040283 - Occasional		5
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		147
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		1
HP:0011545	HP:0001719	Double outlet right ventricle	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0011545	HP:0001636	Tetralogy of Fallot	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001719	Double outlet right ventricle	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0011545	HP:0001636	Tetralogy of Fallot	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011545	HP:0001636	Tetralogy of Fallot	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0011545	HP:0001636	Tetralogy of Fallot	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0011545	HP:0001636	Tetralogy of Fallot	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0011545	HP:0001636	Tetralogy of Fallot	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0011545	HP:0001719	Double outlet right ventricle	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0011545	HP:0001719	Double outlet right ventricle	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0011545	HP:0001719	Double outlet right ventricle	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0011545	HP:0001719	Double outlet right ventricle	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0011545	HP:0001719	Double outlet right ventricle	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		200
HP:0011545	HP:0001719	Double outlet right ventricle	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001719	Double outlet right ventricle	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001719	Double outlet right ventricle	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001719	Double outlet right ventricle	3	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0011545	HP:0001719	Double outlet right ventricle	3	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0011545	HP:0001719	Double outlet right ventricle	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional		4
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0011545	HP:0001719	Double outlet right ventricle	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011545	HP:0011556	Double inlet right ventricle	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011545	HP:0031348	Dextrotransposition of the great arteries	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		5
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		6
HP:0011545	HP:0001636	Tetralogy of Fallot	3	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0011545	HP:0001636	Tetralogy of Fallot	3	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040283 - Occasional		9
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	HP:0040283 - Occasional		13
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional		2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		22
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		3
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		9
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001719	Double outlet right ventricle	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		18
HP:0011545	HP:0001636	Tetralogy of Fallot	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001719	Double outlet right ventricle	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0011545	HP:0001636	Tetralogy of Fallot	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0011545	HP:0001719	Double outlet right ventricle	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare		65
HP:0011545	HP:0001636	Tetralogy of Fallot	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0011545	HP:0001636	Tetralogy of Fallot	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		4
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		17
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		172
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040284 - Very rare		111
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		90
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.		20
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0011545	HP:0001636	Tetralogy of Fallot	3	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		48
HP:0011545	HP:0001719	Double outlet right ventricle	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		2
HP:0011545	HP:0001719	Double outlet right ventricle	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0011545	HP:0001719	Double outlet right ventricle	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0011545	HP:0001719	Double outlet right ventricle	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	HP:0040283 - Occasional		87
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		87
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot	.		87
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0011545	HP:0001719	Double outlet right ventricle	3	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.		10
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.		10
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		10
HP:0011545	HP:0001719	Double outlet right ventricle	3	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.		37
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot	.		37
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		37
HP:0011545	HP:0001719	Double outlet right ventricle	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		28
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		39
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		173
HP:0011545	HP:0001719	Double outlet right ventricle	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		8
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.		32
HP:0011545	HP:0001636	Tetralogy of Fallot	3	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040284 - Very rare		32
HP:0011545	HP:0001636	Tetralogy of Fallot	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		3
HP:0011545	HP:0001719	Double outlet right ventricle	3	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0011545	HP:0001719	Double outlet right ventricle	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0011545	HP:0001719	Double outlet right ventricle	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0011545	HP:0001636	Tetralogy of Fallot	3	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0011545	HP:0001636	Tetralogy of Fallot	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011545	HP:0001719	Double outlet right ventricle	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011545	HP:0001636	Tetralogy of Fallot	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0011545	HP:0001636	Tetralogy of Fallot	3	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0011545	HP:0001636	Tetralogy of Fallot	3	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot	.		257
HP:0011545	HP:0001636	Tetralogy of Fallot	3	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		257
HP:0011545	HP:0001636	Tetralogy of Fallot	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		40
HP:0011545	HP:0001636	Tetralogy of Fallot	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001719	Double outlet right ventricle	3	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0011545	HP:0001719	Double outlet right ventricle	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001636	Tetralogy of Fallot	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011545	HP:0011555	Double inlet left ventricle	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011545	HP:0001719	Double outlet right ventricle	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0011545	HP:0001719	Double outlet right ventricle	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011545	HP:0001636	Tetralogy of Fallot	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0011545	HP:0001636	Tetralogy of Fallot	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011545	HP:0001719	Double outlet right ventricle	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0011545	HP:0001719	Double outlet right ventricle	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0011545	HP:0001636	Tetralogy of Fallot	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0011545	HP:0001719	Double outlet right ventricle	3	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0011545	HP:0001719	Double outlet right ventricle	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		117
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional		90
HP:0011545	HP:0001719	Double outlet right ventricle	3	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.		90
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		90
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot	.		90
HP:0011545	HP:0001719	Double outlet right ventricle	3	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.		3
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		3
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional		3
HP:0011545	HP:0001719	Double outlet right ventricle	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0011545	HP:0011555	Double inlet left ventricle	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0011545	HP:0001719	Double outlet right ventricle	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0011545	HP:0031348	Dextrotransposition of the great arteries	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		45
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		452
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0011545	HP:0001719	Double outlet right ventricle	3	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare		452
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.		138
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.		13
HP:0011545	HP:0001636	Tetralogy of Fallot	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0011545	HP:0001719	Double outlet right ventricle	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001719	Double outlet right ventricle	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001719	Double outlet right ventricle	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001719	Double outlet right ventricle	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001719	Double outlet right ventricle	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0011545	HP:0001719	Double outlet right ventricle	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011545	HP:0001719	Double outlet right ventricle	3	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0011545	HP:0001719	Double outlet right ventricle	3	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional		641
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional		641
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001719	Double outlet right ventricle	3	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent		36
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0011545	HP:0001719	Double outlet right ventricle	3	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.		3
HP:0011545	HP:0001719	Double outlet right ventricle	3	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0011545	HP:0011555	Double inlet left ventricle	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		665
HP:0011545	HP:0001719	Double outlet right ventricle	3	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0011545	HP:0001636	Tetralogy of Fallot	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0011545	HP:0001719	Double outlet right ventricle	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	HP:0040283 - Occasional		16
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare		16
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional		10
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		3
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0011545	HP:0001719	Double outlet right ventricle	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.		40
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0011545	HP:0001719	Double outlet right ventricle	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0011545	HP:0001719	Double outlet right ventricle	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0011545	HP:0001719	Double outlet right ventricle	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0011545	HP:0001719	Double outlet right ventricle	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional		86
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0011545	HP:0001719	Double outlet right ventricle	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		67
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional	HP:0030674 - Antenatal onset
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0011545	HP:0001719	Double outlet right ventricle	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0011545	HP:0031348	Dextrotransposition of the great arteries	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0011545	HP:0031348	Dextrotransposition of the great arteries	3	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001719	Double outlet right ventricle	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional		6
HP:0011545	HP:0001719	Double outlet right ventricle	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0011545	HP:0001719	Double outlet right ventricle	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0011545	HP:0001719	Double outlet right ventricle	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0011545	HP:0001636	Tetralogy of Fallot	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0011545	HP:0001636	Tetralogy of Fallot	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		124
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.		11
HP:0011545	HP:0001719	Double outlet right ventricle	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		32
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0011545	HP:0001719	Double outlet right ventricle	3	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.		32
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		32
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot	.		32
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0011545	HP:0001719	Double outlet right ventricle	3	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001719	Double outlet right ventricle	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0011545	HP:0001719	Double outlet right ventricle	3	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0011545	HP:0001719	Double outlet right ventricle	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011545	HP:0001636	Tetralogy of Fallot	3	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		14
HP:0011545	HP:0001636	Tetralogy of Fallot	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0011545	HP:0001719	Double outlet right ventricle	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0011545	HP:0001636	Tetralogy of Fallot	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0011545	HP:0001636	Tetralogy of Fallot	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0011545	HP:0001636	Tetralogy of Fallot	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040284 - Very rare		6
HP:0011545	HP:0001636	Tetralogy of Fallot	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011545	HP:0001636	Tetralogy of Fallot	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0011545	HP:0001719	Double outlet right ventricle	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0011545	HP:0001636	Tetralogy of Fallot	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0011545	HP:0001636	Tetralogy of Fallot	3	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0011545	HP:0001636	Tetralogy of Fallot	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0011545	HP:0001636	Tetralogy of Fallot	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		31
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot	.		31
HP:0011545	HP:0001636	Tetralogy of Fallot	3	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		34
HP:0011545	HP:0001719	Double outlet right ventricle	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011545	HP:0031348	Dextrotransposition of the great arteries	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0011545	HP:0001719	Double outlet right ventricle	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0011545	HP:0031348	Dextrotransposition of the great arteries	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011545	HP:0011676	Tetralogy of Fallot with absent subarterial conus	4	CL E G H
HP:0011545	HP:0011652	Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis	4	CL E G H
HP:0011545	HP:0011659	Tetralogy of Fallot with absent pulmonary valve	4	CL E G H
HP:0011545	HP:0011657	Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis	4	CL E G H
HP:0011545	HP:0012516	Tetralogy of Fallot with pulmonary atresia	4	CL E G H
HP:0011545	HP:0011656	Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis	4	CL E G H
HP:0011545	HP:0011679	Tetralogy of Fallot with pulmonary stenosis	4	CL E G H
HP:0011545	HP:0011559	Double inlet to single ventricle with two atrioventricular valves	4	CL E G H
HP:0011545	HP:0011655	Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis	4	CL E G H
HP:0011545	HP:0011558	Double inlet to single ventricle with common atrioventricular orifice	4	CL E G H
HP:0011545	HP:0011654	Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis	4	CL E G H
HP:0011545	HP:0011677	Tetralogy of Fallot with atrioventricular canal defect	4	CL E G H
HP:0011545	HP:0011653	Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis	4	CL E G H
HP:0011545	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	4	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0011545	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0011545	HP:0011651	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	4	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional		3
HP:0011545	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	4	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0011545	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	4	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0011545	HP:0011678	Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries	5	CL E G H