ABCDEFGHIJKLMNOPQRSTUVWXYZ
1
Gene
Annovar_gene
OMIM_ID
OMIM_class
Pheno_MIM
Comments
2
ABCC9ABCC9601439AD608569
3
ABCD3ABCD3170995AR616278
4
ACTBACTB102630AD243310
5
ACVR2BACVR2B602730AD613751
6
ADAMTS10ADAMTS10608990AR277600
7
ADNPADNP611386AD615873
8
ANKRD11ANKRD11611192AD148050
9
ARHGAP31ARHGAP31610911AD100300
10
ARID1AARID1A603024AD614607
11
ARL13BARL13B608922ARNA
12
ARMC4ARMC4615408AR615451
13
ASXL1ASXL1612990AD605039
14
ATICATIC608688AR608688
15
B3GALT6B3GALT6615291AR615349
16
BBS1BBS1209901DR/AR209900
17
BBS10BBS10610148AR615987
18
BBS11TRIM32602290AR615988
19
BBS12BBS12610683AR615989
20
BBS2BBS2606151AR615981
21
BBS3ARL6608845AR600151
22
BBS4BBS4600374AR615982
23
BBS5BBS5603650AR615983
24
BBS6MKKS604896AR605231
25
BBS7BBS7607590AR615984
26
BBS8TTC8615985AR615985
27
BBS9BBS9607968AR615986
28
BCORBCOR300485XLD300166
29
BRAF1BRAF164757AD613706
30
CACNA1CCACNA1C114205AD601005
31
CBLCBL165360AD613563
32
CCDC103CCDC103614677AR614679
33
CCDC114CCDC114615038AR615067
34
CCDC151CCDC151615956AR616037
35
CCDC39CCDC39613798AR613807
36
CCDC40CCDC40613799AR613808
37
CD96CD96606037AR211750
38
CDKN1CCDKN1C600856AD130650
39
CEP290CEP290610142AR611134
40
CEP41CEP41610523ARNA
41
CEP57CEP57607951AR614114
42
CFC1CFC1115150AD115150
43
CHD7CHD7608892AD214800
44
CHST3CHST3603799AR143095
45
CITED2CITED2602937AD614431
46
COL1A1COL1A1120150AD130000
47
COL1A2COL1A2120160AR225320(alsoAD)
48
COL2A1COL2A1120140AD108300
49
COL3A1COL3A1120180AD130050
50
COL5A1COL5A1120215AD130000
51
COL5A2COL5A2120190AD130000
52
COX7BCOX7B300885XLD300887
53
CREBBPCREBBP600140AD180849
54
CRELD1CRELD1607170AD606217
55
DDX11DDX11601150AR613398
56
DGCR2DGCR2600594AD188400
57
DHCR7DHCR7602858AR270400
58
DNAAF1DNAAF1613190AR613193
59
DNAAF2DNAAF2612517AR612518
60
DNAAF3DNAAF3614566AR606763
61
DNAH11DNAH11603339AR611884
62
DNAH5DNAH5603335AR608644
63
DNAI1DNAI1604366AR244400
64
DNAI2DNAI2605483AR612444
65
DNAL1DNAL1610062AR614017
66
DOCK6DOCK6614194AR614219
67
DYNC2H1DYNC2H1603297DR/AR613091
68
DYXC1DYX1C1608706AR615482
69
ECE1ECE1600423AD613870
70
EFTUD2EFTUD2603892AD610536
71
EHMT1EHMT1607001AD610253
72
ELNELN130160AD185500
73
EOGTEOGT614789AR615297
74
ESCO2ESCO2609353AR268300
75
EVCEVC604831AR225500
76
EVC2EVC2607261AR225500
77
FBN1FBN1134797AD154700
78
FBN2FBN2612570AD121050
79
FGF8FGF8600483AD612702
80
FGFR1FGFR1136350AD613001
81
FIG4FIG4609390AR216340
82
FKTNFKTN607440AR611615
83
FLNAFLNA300017XLR314400
84
FOXC1FOXC1601090AD602482
85
FOXC2FOXC2602402AD153400
86
FTOFTO610966AR612938
87
GATA4GATA4600576AD187500
88
GATA6GATA6601656AD187500
89
GDF1GDF1602880AD187500
90
GJA1GJA1121014AR/AD241550
91
GLI3GLI3165240AD175700
92
GPC3GPC3300037XLR312870
93
GPC6GPC6604404AR258315
94
HCCSHCCS300056XLD309801
95
HOXA1HOXA1142955AR601536
96
HRASHRAS190020AD218040
97
IFT122IFT122606045AR218330
98
IFT140IFT140614620AR266920
99
IFT80IFT80611177AR611263
100
INVSINVS243305AR602088