ENSCAFG00000001141 |
NDRG1 |
Chr13
:
29689072
-
29746038
(-)
|
Polyneuropathy, NDRG1-related (OMIA002120)
|
18476
|
105
|
62
|
-
|
ENSCAFG00000001218 |
HSD17B3 |
Chr1
:
70550942
-
70585751
(+)
|
Sex reversal: XY female, SRY-positive (OMIA001601)
|
-
|
18
|
-
|
-
|
ENSCAFG00000001392 |
PNPLA1 |
Chr12
:
5377869
-
5417577
(+)
|
Ichthyosis, PNPLA1-related (OMIA001588)
|
3272
|
21
|
62
|
-
|
ENSCAFG00000001406 |
MKLN1 |
Chr14
:
5636382
-
5799833
(-)
|
Acrodermatitis, lethal (OMIA002146)
|
6221
|
33
|
62
|
2
|
ENSCAFG00000001424 |
PLA2G6 |
Chr10
:
26498600
-
26558894
(+)
|
Neuroaxonal dystrophy, PLA2G6-related (OMIA002105)
|
11174
|
76
|
62
|
-
|
ENSCAFG00000001433 |
PLEC |
Chr13
:
37442695
-
37502589
(-)
|
Epidermolysis bullosa, simplex, PLEC-related (OMIA002080)
|
18563
|
327
|
62
|
-
|
ENSCAFG00000001478 |
TYRP1 |
Chr11
:
33317645
-
33335498
(+)
|
Coat colour, brown, TYRP1-related (OMIA001249)
|
3683
|
9
|
62
|
-
|
ENSCAFG00000001630 |
MYH9 |
Chr10
:
28063626
-
28124814
(+)
|
May-Hegglin anomaly (OMIA001608)
|
17182
|
244
|
62
|
-
|
ENSCAFG00000001722 |
PRPH2 |
Chr12
:
11299236
-
11316175
(-)
|
Retinal degeneration II (OMIA001244)
|
1412
|
38
|
62
|
-
|
ENSCAFG00000001833 |
ABCB4 |
Chr14
:
13542668
-
13614146
(-)
|
Gallbladder mucoceles (OMIA001524)
|
2525
|
33
|
62
|
-
|
ENSCAFG00000001835 |
ABCB1 |
Chr14
:
13644042
-
13743053
(-)
|
Multidrug resistance 1 (OMIA001402)
|
17673
|
145
|
62
|
-
|
ENSCAFG00000001917 |
CNGA1 |
Chr13
:
43831107
-
43845271
(-)
|
Progressive retinal atrophy, CNGA1-related (OMIA001977)
|
2806
|
33
|
62
|
-
|
ENSCAFG00000002028 |
VLDLR |
Chr1
:
91241810
-
91271886
(+)
|
Cerebellar hypoplasia, VLDLR-associated (OMIA001947)
|
3680
|
71
|
62
|
-
|
ENSCAFG00000002065 |
KIT |
Chr13
:
47107802
-
47192057
(+)
|
Gastrointestinal stromal tumor (OMIA001516)
Coat colour, white spotting, KIT-related (OMIA001737)
|
4106
|
62
|
62
|
-
|
ENSCAFG00000002065 |
KIT |
Chr13
:
47107802
-
47192057
(+)
|
Gastrointestinal stromal tumor (OMIA001516)
Coat colour, white spotting, KIT-related (OMIA001737)
|
4106
|
62
|
62
|
-
|