AD
|
28
|
56
|
38
|
51
|
25
|
21
|
|
Charcot–Marie–Tooth disease, demyelinating, type 1B (CMT1B)
|
MPZ
|
AD
|
2
|
5
|
2
|
5
|
0
|
0
|
|
Charcot–Marie–Tooth disease, X‐linked, 1 (CMTX1)
|
GJB1
|
XL
|
6
|
9
|
9
|
14
|
5
|
5
|
|
Cholestasis, benign recurrent intrahepatic, 2 (BRIC2)
|
ABCB11
|
AR
|
1
|
2
|
2
|
4
|
1
|
1
|
|
Cholestasis, progressive familial intrahepatic, 3 (PFIC3)
|
ABCB4
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Chondrodysplasia punctata 1, X‐linked recessive (CDPX1)
|
ARSE
|
XL
|
1
|
2
|
2
|
3
|
0
|
0
|
|
Choroideremia (CHM)
|
CHM
|
XL
|
3
|
5
|
5
|
9
|
3
|
3
|
|
Ciliary dyskinesia, primary, 15 (CILD15)
|
CCDC40
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Ciliary dyskinesia, primary, 3 (CILD3)
|
DNAH5
|
AR
|
2
|
2
|
1
|
2
|
1
|
1
|
|
Citrullinemia, classic
|
ASS1
|
AR
|
4
|
7
|
6
|
8
|
3
|
3
|
|
Cleidocranial dysplasia (CCD)
|
RUNX2
|
AD
|
1
|
3
|
5
|
5
|
2
|
2
|
|
Cockayne syndrome A (CSA)
|
ERCC8
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Coenzyme Q10 deficiency, primary, 7 (COQ10D7)
|
COQ4
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Cohen syndrome (COH1)
|
VPS13B
|
AR
|
2
|
2
|
2
|
4
|
2
|
2
|
|
Colorectal cancer, hereditary nonpolyposis, type 1 (HNPCC1)
|
MSH2
|
AD
|
11
|
21
|
14
|
17
|
7
|
6
|
|
Colorectal cancer, hereditary nonpolyposis, type 2 (HNPCC2)
|
MLH1
|
AD
|
10
|
18
|
15
|
25
|
9
|
9
|
|
Colorectal cancer, hereditary nonpolyposis, type 4 (HNPCC4)
|
PMS2
|
AD
|
1
|
2
|
1
|
1
|
0
|
0
|
|
Colorectal cancer, hereditary nonpolyposis, type 5 (HNPCC5)
|
MSH6
|
AD
|
5
|
10
|
8
|
11
|
5
|
5
|
|
Combined oxidative phosphorylation deficiency 13 (COXPD13)
|
PNPT1
|
AR
|
1
|
1
|
3
|
5
|
0
|
0
|
|
Cone–rod dystrophy 6 (CORD6)
|
GUCY2D
|
AD
|
1
|
1
|
1
|
