| ENSCAFG00000002069 |
COL1A2 |
Chr14
:
19883733
-
19920718
(+)
|
Osteogenesis imperfecta, COL1A2-related (OMIA002112)
|
1145
|
64
|
62
|
-
|
| ENSCAFG00000002102 |
JAK2 |
Chr1
:
93321921
-
93435774
(+)
|
Polycythemia (OMIA000809)
|
23451
|
131
|
62
|
-
|
| ENSCAFG00000002187 |
DLX6 |
Chr14
:
22066067
-
22070096
(+)
|
Cleft palate 1 (OMIA001919)
|
7102
|
18
|
62
|
-
|
| ENSCAFG00000002328 |
HCRTR2 |
Chr12
:
22517482
-
22623358
(+)
|
Narcolepsy (OMIA000703)
|
3343
|
25
|
62
|
-
|
| ENSCAFG00000002538 |
SLC3A1 |
Chr10
:
46700522
-
46735787
(+)
|
Cystinuria, type I - A (OMIA000256)
Cystinuria, type II - A (OMIA001879)
|
3349
|
52
|
62
|
-
|
| ENSCAFG00000002538 |
SLC3A1 |
Chr10
:
46700522
-
46735787
(+)
|
Cystinuria, type I - A (OMIA000256)
Cystinuria, type II - A (OMIA001879)
|
3349
|
52
|
62
|
-
|
| ENSCAFG00000002576 |
HIVEP3 |
Chr15
:
1566938
-
1623027
(+)
|
Progressive retinal atrophy, Miniature Schnauzer, type 1 (OMIA002252)
|
4295
|
18
|
62
|
-
|
| ENSCAFG00000002909 |
ENAM |
Chr13
:
59934299
-
59947949
(+)
|
Amelogenesis imperfecta, ENAM-related (OMIA001805)
|
656
|
11
|
62
|
-
|
| ENSCAFG00000002997 |
COL9A2 |
Chr15
:
2646479
-
2661552
(+)
|
Oculoskeletal dysplasia 2 (OMIA001523)
|
576
|
36
|
62
|
-
|
| ENSCAFG00000003004 |
PPT1 |
Chr15
:
2860285
-
2886171
(+)
|
Photoreceptor dysplasia (OMIA001311)
Neuronal ceroid lipofuscinosis, 1 (OMIA001504)
|
5995
|
91
|
62
|
-
|
| ENSCAFG00000003004 |
PPT1 |
Chr15
:
2860285
-
2886171
(+)
|
Photoreceptor dysplasia (OMIA001311)
Neuronal ceroid lipofuscinosis, 1 (OMIA001504)
|
5995
|
91
|
62
|
-
|
| ENSCAFG00000003009 |
SNX14 |
Chr12
:
45524819
-
45598428
(-)
|
Cerebellar cortical degeneration, Hungarian Vizsla (OMIA002034)
|
20963
|
283
|
62
|
-
|
| ENSCAFG00000003079 |
FAM161A |
Chr10
:
61818785
-
61840556
(-)
|
Progressive retinal atrophy, type 3, FAM161A-related (OMIA001918)
|
2036
|
30
|
62
|
1
|
| ENSCAFG00000003090 |
COMMD1 |
Chr10
:
61880797
-
62060532
(+)
|
Wilson disease, COMMD1 type (OMIA001988)
|
8168
|
12
|
62
|
1
|
| ENSCAFG00000003217 |
TPO |
Chr17
:
773790
-
810044
(+)
|
Hypothyroidism, congenital (OMIA000536)
|
5024
|
41
|
62
|
-
|
