ENSCAFG00000016957 |
HES7 |
Chr5
:
32944052
-
32947711
(-)
|
Spondylocostal dysostosis, autosomal recessive (OMIA001944)
|
422
|
3
|
62
|
-
|
ENSCAFG00000016959 |
PKLR |
Chr7
:
42263908
-
42271587
(+)
|
Pyruvate kinase deficiency of erythrocyte (OMIA000844)
|
1645
|
51
|
62
|
-
|
ENSCAFG00000017013 |
SGCA |
Chr9
:
26164316
-
26178396
(+)
|
Muscular dystrophy, limb-girdle, type R3 (LGMDR3) (OMIA002305)
|
1271
|
42
|
62
|
-
|
ENSCAFG00000017018 |
COL1A1 |
Chr9
:
26183852
-
26199927
(-)
|
Osteogenesis imperfecta, type III, COL1A1-related (OMIA002126)
|
1834
|
105
|
62
|
-
|
ENSCAFG00000017263 |
ATP7A |
ChrX
:
60203319
-
60356690
(+)
|
Menkes disease (OMIA000640)
|
17730
|
143
|
62
|
2
|
ENSCAFG00000017315 |
SEL1L |
Chr8
:
53771761
-
53824492
(-)
|
Ataxia, cerebellar, progressive early-onset, SEL1L-related (OMIA001692)
|
7114
|
132
|
62
|
2
|
ENSCAFG00000017337 |
GALC |
Chr8
:
59266312
-
59324873
(-)
|
Krabbe disease (OMIA000578)
|
9152
|
107
|
62
|
-
|
ENSCAFG00000017367 |
NIPAL4 |
Chr4
:
52735034
-
52748219
(-)
|
Ichthyosis, NIPAL4-related (OMIA001980)
|
1136
|
21
|
62
|
-
|
ENSCAFG00000017473 |
CLN6 |
Chr30
:
32246411
-
32264240
(-)
|
Neuronal ceroid lipofuscinosis, 6 (OMIA001443)
|
5737
|
32
|
62
|
-
|
ENSCAFG00000017474 |
MPO |
Chr9
:
32924779
-
32937785
(-)
|
Myeloperoxidase deficiency (OMIA002028)
|
519
|
12
|
62
|
-
|
ENSCAFG00000017478 |
TTC8 |
Chr8
:
60061578
-
60115866
(+)
|
Golden Retriever PRA 2 (OMIA001984)
|
10449
|
91
|
62
|
-
|
ENSCAFG00000017592 |
SGCD |
Chr4
:
53267777
-
53642810
(-)
|
Muscular dystrophy, limb-girdle, type R6 (LGMDR6) (OMIA002122)
|
30806
|
27
|
62
|
-
|
ENSCAFG00000017629 |
LOXHD1 |
Chr7
:
44663182
-
44827476
(+)
|
Deafness, LOXHD1-related (OMIA002336)
|
20803
|
180
|
62
|
-
|
ENSCAFG00000017708 |
HEXA |
Chr30
:
35836752
-
35863444
(-)
|
Gangliosidosis, GM2, type I (B variant) (OMIA001461)
|
6528
|
82
|
62
|
-
|
ENSCAFG00000017717 |
BBS4 |
Chr30
:
36063709
-
36108369
(+)
|
Bardet-Biedl syndrome 4 (OMIA002045)
|
-
|
9
|
-
|
-
|