retinal dysplasia Gene Set
Genes
12 genes associated with the retinal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
B3GNT1
|
|
|
FKTN
|
fukutin
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
LARGE
|
like-glycosyltransferase
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
TMEM5
|
transmembrane protein 5
|
|
TUBB
|
tubulin, beta class I
|
