Central Visual Impairment Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C3810365
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Genes

146 genes associated with the disease Central Visual Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACP6 acid phosphatase 6, lysophosphatidic
ACTB actin, beta
ADNP activity-dependent neuroprotector homeobox
AHDC1 AT hook, DNA binding motif, containing 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AMD1 adenosylmethionine decarboxylase 1
AMPD2 adenosine monophosphate deaminase 2
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATN1 atrophin 1
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BLOC1S2 biogenesis of lysosomal organelles complex-1, subunit 2
C12ORF4 chromosome 12 open reading frame 4
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit
CC2D1A coiled-coil and C2 domain containing 1A
CCDC47 coiled-coil domain containing 47
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CDKL5 cyclin-dependent kinase-like 5
CERT1 ceramide transporter 1
CLCN4 chloride channel, voltage-sensitive 4
CLIP1 CAP-GLY domain containing linker protein 1
COG5 component of oligomeric golgi complex 5
COL1A2 collagen, type I, alpha 2
COPB2 coatomer protein complex, subunit beta 2 (beta prime)
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX1
COX2
COX3
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRBN cereblon
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CXCL9 chemokine (C-X-C motif) ligand 9
DAP death-associated protein
DCPS decapping enzyme, scavenger
DIAPH1 diaphanous-related formin 1
DOCK7 dedicator of cytokinesis 7
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DUSP5 dual specificity phosphatase 5
EDC3 enhancer of mRNA decapping 3
EMC1 ER membrane protein complex subunit 1
EZR ezrin
FBXO31 F-box protein 31
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
FMN2 formin 2
FRRS1L ferric-chelate reductase 1-like
FUK fucokinase
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
HNMT histamine N-methyltransferase
IL10 interleukin 10
IL2 interleukin 2
IL6 interleukin 6
KAT6A K(lysine) acetyltransferase 6A
KDM5B lysine (K)-specific demethylase 5B
KIF5A kinesin family member 5A
LBR lamin B receptor
LINS lines homolog (Drosophila)
LMAN2L lectin, mannose-binding 2-like
MAN1B1 mannosidase, alpha, class 1B, member 1
MAPK3 mitogen-activated protein kinase 3
MBOAT7 membrane bound O-acyltransferase domain containing 7
MED23 mediator complex subunit 23
MED25 mediator complex subunit 25
METTL23 methyltransferase like 23
MGMT O-6-methylguanine-DNA methyltransferase
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MT-CYB cytochrome b
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
NADK2 NAD kinase 2, mitochondrial
NAGA N-acetylgalactosaminidase, alpha-
NARS2 asparaginyl-tRNA synthetase 2, mitochondrial (putative)
ND1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEUROD2 neuronal differentiation 2
NGLY1 N-glycanase 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative)
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PGAP1 post-GPI attachment to proteins 1
PHGDH phosphoglycerate dehydrogenase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGC phosphatidylinositol glycan anchor biosynthesis, class C
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGS phosphatidylinositol glycan anchor biosynthesis, class S
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
POGZ pogo transposable element with ZNF domain
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PON1 paraoxonase 1
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PTPRC protein tyrosine phosphatase, receptor type, C
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RNF13 ring finger protein 13
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RSRC1 arginine/serine-rich coiled-coil 1
RTEL1 regulator of telomere elongation helicase 1
SARS1 seryl-tRNA synthetase 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SGSM3 small G protein signaling modulator 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC45A1 solute carrier family 45, member 1
SON SON DNA binding protein
SPTBN4 spectrin, beta, non-erythrocytic 4
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
TBC1D20 TBC1 domain family, member 20
TBCK TBC1 domain containing kinase
TECR trans-2,3-enoyl-CoA reductase
TGFB1 transforming growth factor, beta 1
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TIMP1 TIMP metallopeptidase inhibitor 1
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNIK TRAF2 and NCK interacting kinase
TRAPPC12 trafficking protein particle complex 12
TRAPPC9 trafficking protein particle complex 9
TUSC3 tumor suppressor candidate 3
TWNK twinkle mtDNA helicase
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2)
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae)
VWF von Willebrand factor
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial
WASHC4 WASH complex subunit 4
ZC3H14 zinc finger CCCH-type containing 14
ZFP30 ZFP30 zinc finger protein