Abnormality Of Vision Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Abnormality of eyesight (visual perception). (Human Phenotype Ontology, HP_0000504)
External Link https://www.disgenet.org/browser/0/1/0/C4025846
Similar Terms
Downloads & Tools

Genes

127 genes associated with the disease Abnormality Of Vision in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AARS1 alanyl-tRNA synthetase 1
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7
ACTL6B actin-like 6B
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
AP3B2 adaptor-related protein complex 3, beta 2 subunit
APP amyloid beta (A4) precursor protein
ARID1B AT rich interactive domain 1B (SWI1-like)
ARV1 ARV1 homolog (S. cerevisiae)
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C2ORF71 chromosome 2 open reading frame 71
CA8 carbonic anhydrase VIII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDK8 cyclin-dependent kinase 8
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CLEC7A C-type lectin domain family 7, member A
CLTC clathrin, heavy chain (Hc)
CNKSR2 connector enhancer of kinase suppressor of Ras 2
CORIN corin, serine peptidase
CTNND1 catenin (cadherin-associated protein), delta 1
CTSH cathepsin H
CYFIP2 cytoplasmic FMR1 interacting protein 2
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DHDDS dehydrodolichyl diphosphate synthase
DNM1 dynamin 1
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPYD dihydropyrimidine dehydrogenase
EDN3 endothelin 3
EDNRB endothelin receptor type B
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
FGF12 fibroblast growth factor 12
FGFR2 fibroblast growth factor receptor 2
FLT1 fms-related tyrosine kinase 1
FOXE3 forkhead box E3
FUK fucokinase
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GNAS GNAS complex locus
GORAB golgin, RAB6-interacting
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HCRT hypocretin (orexin) neuropeptide precursor
HGD homogentisate 1,2-dioxygenase
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HRAS Harvey rat sarcoma viral oncogene homolog
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL17RC interleukin 17 receptor C
KAT8 K(lysine) acetyltransferase 8
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCTD7 potassium channel tetramerization domain containing 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LIFR leukemia inhibitory factor receptor alpha
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MEN1 multiple endocrine neoplasia I
MITF microphthalmia-associated transcription factor
MOG myelin oligodendrocyte glycoprotein
MPDU1 mannose-P-dolichol utilization defect 1
NECAP1 NECAP endocytosis associated 1
NF1 neurofibromin 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
P2RY11 purinergic receptor P2Y, G-protein coupled, 11
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative)
PAX3 paired box 3
PAX6 paired box 6
PIGB phosphatidylinositol glycan anchor biosynthesis, class B
PLG plasminogen
POLR1A polymerase (RNA) I polypeptide A, 194kDa
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRR12 proline rich 12
PRRT2 proline-rich transmembrane protein 2
PSEN1 presenilin 1
PSEN2 presenilin 2
PYCR1 pyrroline-5-carboxylate reductase 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RS1 retinoschisin 1
SALL1 spalt-like transcription factor 1
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHH sonic hedgehog
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SNAP29 synaptosomal-associated protein, 29kDa
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SOX10 SRY (sex determining region Y)-box 10
STOX1 storkhead box 1
STXBP1 syntaxin binding protein 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNJ1 synaptojanin 1
SZT2 seizure threshold 2 homolog (mouse)
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)
TRAF3IP2 TRAF3 interacting protein 2
TRAK1 trafficking protein, kinesin binding 1
TREM2 triggering receptor expressed on myeloid cells 2
TRIP13 thyroid hormone receptor interactor 13
TUBB2B tubulin, beta 2B class IIb
TXNL4A thioredoxin-like 4A
UBA5 ubiquitin-like modifier activating enzyme 5
UGP2 UDP-glucose pyrophosphorylase 2
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WDR81 WD repeat domain 81
WWOX WW domain containing oxidoreductase
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ZNF365 zinc finger protein 365