optic disc pallor Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. (Human Phenotype Ontology, HP_0000543)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000543
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Genes

56 genes associated with the optic disc pallor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ARL2BP ADP-ribosylation factor-like 2 binding protein
ATXN1 ataxin 1
BEST1 bestrophin 1
C8ORF37 chromosome 8 open reading frame 37
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CERKL ceramide kinase-like
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
COX1
COX3
COX7B cytochrome c oxidase subunit VIIb
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
FAM161A family with sequence similarity 161, member A
FOXRED1 FAD-dependent oxidoreductase domain containing 1
HARS histidyl-tRNA synthetase
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MAK male germ cell-associated kinase
MERTK MER proto-oncogene, tyrosine kinase
MFN2 mitofusin 2
MT-CYB cytochrome b
MT-ND2 MTND2
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MVK mevalonate kinase
ND1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NUBPL nucleotide binding protein-like
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PEX1 peroxisomal biogenesis factor 1
PRCD progressive rod-cone degeneration
RBP3 retinol binding protein 3, interstitial
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
TMEM126A transmembrane protein 126A
TPI1 triosephosphate isomerase 1
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
ZNF513 zinc finger protein 513