visual loss Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Loss of visual acuity (implying that vision was better at a certain timepoint in live - otherwise the term is impaired vision or a subclass of that). (Human Phenotype Ontology, HP_0000572)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000572
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Genes

73 genes associated with the visual loss phenotype by mapping known disease genes to disease phenotypes from the HPO 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
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ATXN7 ataxin 7
BCOR BCL6 corepressor
BEST1 bestrophin 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BTD biotinidase
C19ORF12 chromosome 19 open reading frame 12
C1QTNF5 C1q and tumor necrosis factor related protein 5
CA2 carbonic anhydrase II
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)
CLRN1 clarin 1
COL18A1 collagen, type XVIII, alpha 1
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CTSD cathepsin D
DCN decorin
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IFT140 intraflagellar transport 140
KCTD7 potassium channel tetramerization domain containing 7
LRP2 low density lipoprotein receptor-related protein 2
MERTK MER proto-oncogene, tyrosine kinase
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MYO7A myosin VIIA
NBAS neuroblastoma amplified sequence
NEU1 sialidase 1 (lysosomal sialidase)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NOTCH3 notch 3
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PEX13 peroxisomal biogenesis factor 13
PGK1 phosphoglycerate kinase 1
PITPNM3 PITPNM family member 3
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
PPT1 palmitoyl-protein thioesterase 1
PROM1 prominin 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
RP1L1 retinitis pigmentosa 1-like 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RS1 retinoschisin 1
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SOST sclerostin
SPATA7 spermatogenesis associated 7
SRD5A3 steroid 5 alpha-reductase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
TBC1D24 TBC1 domain family, member 24
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFG TRK-fused gene
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
TRPM1 transient receptor potential cation channel, subfamily M, member 1
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCAN versican
ZNF469 zinc finger protein 469