Chorioretinal Dysplasia Gene Set
Genes
21 genes associated with the disease Chorioretinal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
HCCS
|
holocytochrome c synthase
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KIF11
|
kinesin family member 11
|
|
LARGE
|
like-glycosyltransferase
|
|
NDUFB11
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
TMEM5
|
transmembrane protein 5
|
|
TUBGCP4
|
tubulin, gamma complex associated protein 4
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
