Retinal Dystrophies Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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25 genes associated with the Retinal Dystrophies 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
ACBD5 acyl-CoA binding domain containing 5
ADGRA3 adhesion G protein-coupled receptor A3
BEST1 bestrophin 1
C1QTNF5 C1q and tumor necrosis factor related protein 5
C21ORF2 chromosome 21 open reading frame 2
C3 complement component 3
CFH complement factor H
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
DTHD1 death domain containing 1
ELOVL4 ELOVL fatty acid elongase 4
EMC1 ER membrane protein complex subunit 1
EYS eyes shut homolog (Drosophila)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HTRA1 HtrA serine peptidase 1
KIAA1549 KIAA1549
PRPH2 peripherin 2 (retinal degeneration, slow)
RBP1 retinol binding protein 1, cellular
RBP3 retinol binding protein 3, interstitial
RGR retinal G protein coupled receptor
RHO rhodopsin
TIMP3 TIMP metallopeptidase inhibitor 3
USH2A Usher syndrome 2A (autosomal recessive, mild)