Severe 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/C1301509
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
AMD1 adenosylmethionine decarboxylase 1
AQP4 aquaporin 4
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
CEP290 centrosomal protein 290kDa
CFH complement factor H
CLDN19 claudin 19
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
DPYD dihydropyrimidine dehydrogenase
FAM161A family with sequence similarity 161, member A
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
IMPG2 interphotoreceptor matrix proteoglycan 2
IQCB1 IQ motif containing B1
LPIN1 lipin 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
METTL9 methyltransferase like 9
MOG myelin oligodendrocyte glycoprotein
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
OPA1 optic atrophy 1 (autosomal dominant)
PDAP1 PDGFA associated protein 1
PROM1 prominin 1
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
REG3A regenerating islet-derived 3 alpha
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
SGSH N-sulfoglucosamine sulfohydrolase
TGFBI transforming growth factor, beta-induced, 68kDa
TMCO1 transmembrane and coiled-coil domains 1
TULP1 tubby like protein 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VEGFA vascular endothelial growth factor A