| ENSCAFG00000003243 |
ANLN |
Chr14
:
47805292
-
47855733
(+)
|
Respiratory distress syndrome (OMIA000101)
|
6765
|
117
|
62
|
-
|
| ENSCAFG00000003324 |
ASPRV1 |
Chr10
:
68586975
-
68587847
(-)
|
Ichthyosis, ASPRV1-related (OMIA002099)
|
743
|
16
|
62
|
-
|
| ENSCAFG00000003340 |
AKNA |
Chr11
:
68489979
-
68598444
(-)
|
Recurrent inflammatory pulmonary disease (OMIA002205)
|
4181
|
97
|
62
|
-
|
| ENSCAFG00000003576 |
SLC13A1 |
Chr14
:
60685527
-
60762012
(-)
|
Osteochondrodysplasia (OMIA001315)
|
8245
|
38
|
62
|
-
|
| ENSCAFG00000003619 |
CLCN1 |
Chr16
:
6342772
-
6373580
(-)
|
Myotonia (OMIA000698)
|
2286
|
59
|
62
|
-
|
| ENSCAFG00000003860 |
MFSD8 |
Chr19
:
12905286
-
13030813
(+)
|
Neuronal ceroid lipofuscinosis, 7 (OMIA001962)
|
6972
|
69
|
62
|
-
|
| ENSCAFG00000003907 |
BRAF |
Chr16
:
8222323
-
8316807
(+)
|
Invasive transitional cell carcinoma (OMIA001512)
|
6489
|
66
|
62
|
-
|
| ENSCAFG00000004149 |
POMC |
Chr17
:
19431585
-
19438100
(-)
|
Obesity (OMIA001258)
|
412
|
8
|
62
|
-
|
| ENSCAFG00000004244 |
NAPEPLD |
Chr18
:
16966256
-
16990888
(+)
|
Leukoencephalomyelopathy (OMIA001788)
|
4290
|
45
|
62
|
2
|
| ENSCAFG00000004261 |
ATP7B |
Chr22
:
162769
-
225266
(+)
|
Wilson disease (OMIA001071)
|
1423
|
24
|
62
|
1
|
| ENSCAFG00000004342 |
GP9 |
Chr20
:
3027866
-
3028426
(-)
|
Bernard-Soulier syndrome, type C (OMIA002207)
|
-
|
4
|
-
|
-
|
| ENSCAFG00000004373 |
TYR |
Chr21
:
10799940
-
10894191
(-)
|
Coat colour, oculocutaneous albinism type I (OCA1), TYR-related (OMIA000202)
|
3419
|
16
|
62
|
-
|
| ENSCAFG00000004553 |
BTBD17 |
Chr9
:
6047911
-
6052088
(+)
|
Abortion (embryonic lethality), BTBD17-related (OMIA002132)
|
554
|
13
|
62
|
-
|
| ENSCAFG00000004568 |
CUBN |
Chr2
:
19784198
-
20041500
(+)
|
Intestinal cobalamin malabsorption, CUBN-related (OMIA001786)
|
6713
|
72
|
62
|
-
|
| ENSCAFG00000004606 |
BIN1 |
Chr19
:
23503647
-
23533936
(+)
|
Myopathy, Great Dane (OMIA001660)
|
17047
|
161
|
62
|
-
|
