| ENSCAFG00000016330 |
CLN8 |
Chr37
:
30866753
-
30886347
(+)
|
Neuronal ceroid lipofuscinosis, 8 (OMIA001506)
|
1149
|
15
|
62
|
-
|
| ENSCAFG00000016450 |
RAB24 |
Chr4
:
36055566
-
36057114
(+)
|
Ataxia, cerebellar, juvenile to adolescent, RAB24-related (OMIA001913)
|
281
|
19
|
62
|
-
|
| ENSCAFG00000016472 |
MFN2 |
Chr2
:
84283435
-
84308263
(-)
|
Neuroaxonal dystrophy, MFN2-related (OMIA002153)
|
1475
|
24
|
62
|
-
|
| ENSCAFG00000016480 |
LGI2 |
Chr3
:
85180997
-
85210480
(+)
|
Epilepsy, benign familial juvenile (OMIA001596)
|
1421
|
18
|
62
|
-
|
| ENSCAFG00000016537 |
KCNIP4 |
Chr3
:
88665407
-
88896158
(+)
|
Ataxia, cerebellar, KCNIP4-related (OMIA002240)
|
162993
|
70
|
62
|
1
|
| ENSCAFG00000016672 |
LCORL |
Chr3
:
91175778
-
91260918
(+)
|
Height, LCORL-associated body-size variation (OMIA002246)
|
11094
|
29
|
62
|
-
|
| ENSCAFG00000016701 |
IDUA |
Chr3
:
91522035
-
91534575
(-)
|
Mucopolysaccharidosis I (OMIA000664)
|
4941
|
65
|
62
|
-
|
| ENSCAFG00000016703 |
ATP1B2 |
Chr5
:
32548459
-
32553409
(+)
|
Ataxia, cerebellar, ATP1B2-related (OMIA002110)
|
788
|
87
|
62
|
-
|
| ENSCAFG00000016712 |
BCAN |
Chr7
:
41313555
-
41330544
(-)
|
Episodic falling (OMIA001592)
|
2032
|
101
|
62
|
-
|
| ENSCAFG00000016714 |
TP53 |
Chr5
:
32560598
-
32574109
(-)
|
Histiocytosis, malignant (OMIA000620)
|
1330
|
54
|
62
|
-
|
| ENSCAFG00000016782 |
PDE6B |
Chr3
:
91746571
-
91775372
(-)
|
Rod-cone dysplasia 1 (OMIA000882)
Rod-cone dysplasia 1a (OMIA001669)
Cone-rod dystrophy 1 (OMIA001674)
Progressive retinal atrophy, PDE6B-related (OMIA002282)
|
3166
|
47
|
62
|
-
|
| ENSCAFG00000016782 |
PDE6B |
Chr3
:
91746571
-
91775372
(-)
|
Rod-cone dysplasia 1 (OMIA000882)
Rod-cone dysplasia 1a (OMIA001669)
Cone-rod dystrophy 1 (OMIA001674)
Progressive retinal atrophy, PDE6B-related (OMIA002282)
|
3166
|
47
|
62
|
-
|
| ENSCAFG00000016782 |
PDE6B |
Chr3
:
91746571
-
91775372
(-)
|
Rod-cone dysplasia 1 (OMIA000882)
Rod-cone dysplasia 1a (OMIA001669)
Cone-rod dystrophy 1 (OMIA001674)
Progressive retinal atrophy, PDE6B-related (OMIA002282)
|
3166
|
47
|
62
|
-
|
| ENSCAFG00000016782 |
PDE6B |
Chr3
:
91746571
-
91775372
(-)
|
Rod-cone dysplasia 1 (OMIA000882)
Rod-cone dysplasia 1a (OMIA001669)
Cone-rod dystrophy 1 (OMIA001674)
Progressive retinal atrophy, PDE6B-related (OMIA002282)
|
3166
|
47
|
62
|
-
|
| ENSCAFG00000016918 |
GNGT2 |
Chr9
:
25369751
-
25372655
(-)
|
Rod-cone dysplasia (OMIA000881)
|
328
|
33
|
62
|
-
|
