| ENSCAFG00000024932 |
GJA9 |
Chr15
:
3862418
-
3863962
(+)
|
Polyneuropathy, GJA9-related (OMIA002119)
|
277
|
22
|
62
|
-
|
| ENSCAFG00000024967 |
ASIP |
Chr24
:
23354642
-
23393918
(+)
|
Coat colour, agouti (OMIA000201)
|
1839
|
7
|
62
|
-
|
| ENSCAFG00000028557 |
NKX2-8 |
Chr8
:
15149347
-
15151149
(-)
|
Spinal dysraphism (OMIA000938)
|
634
|
17
|
62
|
-
|
| ENSCAFG00000028978 |
IL2RG |
ChrX
:
55478114
-
55484773
(-)
|
Severe combined immunodeficiency disease, X-linked (OMIA000899)
|
791
|
18
|
62
|
-
|
| ENSCAFG00000028996 |
RD3 |
Chr7
:
9875587
-
9876015
(-)
|
Rod-cone dysplasia 2 (OMIA001260)
|
367
|
32
|
62
|
-
|
| ENSCAFG00000029135 |
GDNF |
Chr4
:
70966214
-
70992485
(+)
|
Acral mutilation syndrome (OMIA001514)
|
860
|
27
|
62
|
1
|
| ENSCAFG00000029347 |
PLN |
Chr1
:
58588104
-
58588262
(+)
|
Cardiomyopathy, dilated, PLN-related (OMIA002195)
|
-
|
-
|
-
|
1
|
| ENSCAFG00000029394 |
HAS2 |
Chr13
:
20308986
-
20341775
(-)
|
Periodic Fever Syndrome (OMIA001561)
|
2465
|
54
|
62
|
-
|
| ENSCAFG00000029740 |
MSRB3 |
Chr10
:
7892745
-
8041111
(+)
|
Ears, folded (drop vs prick) (OMIA000319)
|
8008
|
51
|
62
|
-
|
| ENSCAFG00000029925 |
EDA |
ChrX
:
54389054
-
54515594
(+)
|
Anhidrotic ectodermal dysplasia, EDA-related (OMIA000543)
|
10699
|
9
|
62
|
-
|
| ENSCAFG00000029929 |
PKP1 |
Chr7
:
1921085
-
1966949
(-)
|
Ectodermal dysplasia/skin fragility syndrome (OMIA001864)
|
910
|
70
|
62
|
-
|
| ENSCAFG00000029983 |
FGF4 |
Chr18
:
48413409
-
48417495
(+)
|
Dermoid sinus (OMIA000272)
|
501
|
4
|
62
|
-
|
| ENSCAFG00000030464 |
NHEJ1 |
Chr37
:
25633562
-
25719307
(-)
|
Collie eye anomaly (OMIA000218)
|
2198
|
30
|
62
|
-
|
| ENSCAFG00000031026 |
FOXI3 |
Chr17
:
38032447
-
38038363
(+)
|
Ectodermal dysplasia (OMIA000323)
|
446
|
7
|
62
|
-
|
| ENSCAFG00000031593 |
PRCD |
Chr9
:
4185461
-
4188777
(-)
|
Progressive rod-cone degeneration (OMIA001298)
|
362
|
4
|
62
|
-
|
