cortical visual impairment Gene Set
Genes
16 genes associated with the cortical visual impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
DOCK7
|
dedicator of cytokinesis 7
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
