cortical visual impairment Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100704
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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)