Human Congenital Heart Disease Genes

	A	B	C	D	E	F
1	Gene	Annovar_gene	OMIM_ID	OMIM_class	Pheno_MIM	Comments
2	ABCC9	ABCC9	601439	AD	608569
3	ABCD3	ABCD3	170995	AR	616278
4	ACTB	ACTB	102630	AD	243310
5	ACVR2B	ACVR2B	602730	AD	613751
6	ADAMTS10	ADAMTS10	608990	AR	277600
7	ADNP	ADNP	611386	AD	615873
8	ANKRD11	ANKRD11	611192	AD	148050
9	ARHGAP31	ARHGAP31	610911	AD	100300
10	ARID1A	ARID1A	603024	AD	614607
11	ARL13B	ARL13B	608922	AR	NA
12	ARMC4	ARMC4	615408	AR	615451
13	ASXL1	ASXL1	612990	AD	605039
14	ATIC	ATIC	608688	AR	608688
15	B3GALT6	B3GALT6	615291	AR	615349
16	BBS1	BBS1	209901	DR/AR	209900
17	BBS10	BBS10	610148	AR	615987
18	BBS11	TRIM32	602290	AR	615988
19	BBS12	BBS12	610683	AR	615989
20	BBS2	BBS2	606151	AR	615981
21	BBS3	ARL6	608845	AR	600151
22	BBS4	BBS4	600374	AR	615982
23	BBS5	BBS5	603650	AR	615983
24	BBS6	MKKS	604896	AR	605231
25	BBS7	BBS7	607590	AR	615984
26	BBS8	TTC8	615985	AR	615985
27	BBS9	BBS9	607968	AR	615986
28	BCOR	BCOR	300485	XLD	300166
29	BRAF1	BRAF	164757	AD	613706
30	CACNA1C	CACNA1C	114205	AD	601005
31	CBL	CBL	165360	AD	613563
32	CCDC103	CCDC103	614677	AR	614679
33	CCDC114	CCDC114	615038	AR	615067
34	CCDC151	CCDC151	615956	AR	616037
35	CCDC39	CCDC39	613798	AR	613807
36	CCDC40	CCDC40	613799	AR	613808
37	CD96	CD96	606037	AR	211750
38	CDKN1C	CDKN1C	600856	AD	130650
39	CEP290	CEP290	610142	AR	611134
40	CEP41	CEP41	610523	AR	NA
41	CEP57	CEP57	607951	AR	614114
42	CFC1	CFC1	115150	AD	115150
43	CHD7	CHD7	608892	AD	214800
44	CHST3	CHST3	603799	AR	143095
45	CITED2	CITED2	602937	AD	614431
46	COL1A1	COL1A1	120150	AD	130000
47	COL1A2	COL1A2	120160	AR	225320	(alsoAD)
48	COL2A1	COL2A1	120140	AD	108300
49	COL3A1	COL3A1	120180	AD	130050
50	COL5A1	COL5A1	120215	AD	130000
51	COL5A2	COL5A2	120190	AD	130000
52	COX7B	COX7B	300885	XLD	300887
53	CREBBP	CREBBP	600140	AD	180849
54	CRELD1	CRELD1	607170	AD	606217
55	DDX11	DDX11	601150	AR	613398
56	DGCR2	DGCR2	600594	AD	188400
57	DHCR7	DHCR7	602858	AR	270400
58	DNAAF1	DNAAF1	613190	AR	613193
59	DNAAF2	DNAAF2	612517	AR	612518
60	DNAAF3	DNAAF3	614566	AR	606763
61	DNAH11	DNAH11	603339	AR	611884
62	DNAH5	DNAH5	603335	AR	608644
63	DNAI1	DNAI1	604366	AR	244400
64	DNAI2	DNAI2	605483	AR	612444
65	DNAL1	DNAL1	610062	AR	614017
66	DOCK6	DOCK6	614194	AR	614219
67	DYNC2H1	DYNC2H1	603297	DR/AR	613091
68	DYXC1	DYX1C1	608706	AR	615482
69	ECE1	ECE1	600423	AD	613870
70	EFTUD2	EFTUD2	603892	AD	610536
71	EHMT1	EHMT1	607001	AD	610253
72	ELN	ELN	130160	AD	185500
73	EOGT	EOGT	614789	AR	615297
74	ESCO2	ESCO2	609353	AR	268300
75	EVC	EVC	604831	AR	225500
76	EVC2	EVC2	607261	AR	225500
77	FBN1	FBN1	134797	AD	154700
78	FBN2	FBN2	612570	AD	121050
79	FGF8	FGF8	600483	AD	612702
80	FGFR1	FGFR1	136350	AD	613001
81	FIG4	FIG4	609390	AR	216340
82	FKTN	FKTN	607440	AR	611615
83	FLNA	FLNA	300017	XLR	314400
84	FOXC1	FOXC1	601090	AD	602482
85	FOXC2	FOXC2	602402	AD	153400
86	FTO	FTO	610966	AR	612938
87	GATA4	GATA4	600576	AD	187500
88	GATA6	GATA6	601656	AD	187500
89	GDF1	GDF1	602880	AD	187500
90	GJA1	GJA1	121014	AR/AD	241550
91	GLI3	GLI3	165240	AD	175700
92	GPC3	GPC3	300037	XLR	312870
93	GPC6	GPC6	604404	AR	258315
94	HCCS	HCCS	300056	XLD	309801
95	HOXA1	HOXA1	142955	AR	601536
96	HRAS	HRAS	190020	AD	218040
97	IFT122	IFT122	606045	AR	218330
98	IFT140	IFT140	614620	AR	266920
99	IFT80	IFT80	611177	AR	611263
100	INVS	INVS	243305	AR	602088