progressive visual loss Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A reduction of previously attained ability to see. (Human Phenotype Ontology, HP_0000529)
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29 genes associated with the progressive visual loss phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATXN7 ataxin 7
BRAF B-Raf proto-oncogene, serine/threonine kinase
C19ORF12 chromosome 19 open reading frame 12
CDHR1 cadherin-related family member 1
CFH complement factor H
CHM choroideremia (Rab escort protein 1)
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
DCN decorin
LRP2 low density lipoprotein receptor-related protein 2
MERTK MER proto-oncogene, tyrosine kinase
MFN2 mitofusin 2
NEU1 sialidase 1 (lysosomal sialidase)
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PITPNM3 PITPNM family member 3
PNPLA6 patatin-like phospholipase domain containing 6
PPT1 palmitoyl-protein thioesterase 1
PROM1 prominin 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
RP1L1 retinitis pigmentosa 1-like 1
RS1 retinoschisin 1
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SOST sclerostin
TGFBI transforming growth factor, beta-induced, 68kDa
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TPP1 tripeptidyl peptidase I
TREX1 three prime repair exonuclease 1