Vision Disorders Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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Genes

30 genes associated with the Vision Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ARMS2 age-related maculopathy susceptibility 2
BEST1 bestrophin 1
C1QTNF5 C1q and tumor necrosis factor related protein 5
CAV1 caveolin 1, caveolae protein, 22kDa
CAV2 caveolin 2
CFH complement factor H
CRX cone-rod homeobox
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
ELOVL4 ELOVL fatty acid elongase 4
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HTRA1 HtrA serine peptidase 1
ICAM1 intercellular adhesion molecule 1
IQCB1 IQ motif containing B1
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
PAX6 paired box 6
PRPH2 peripherin 2 (retinal degeneration, slow)
RHO rhodopsin
RPGR retinitis pigmentosa GTPase regulator
TIMP3 TIMP metallopeptidase inhibitor 3