abnormality of macular pigmentation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of macular or foveal pigmentation. (Human Phenotype Ontology, HP_0008002)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008002
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12 genes associated with the abnormality of macular pigmentation 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
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CNGB3 cyclic nucleotide gated channel beta 3
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
PAX2 paired box 2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PROM1 prominin 1
RAB28 RAB28, member RAS oncogene family
RD3 retinal degeneration 3
RIMS1 regulating synaptic membrane exocytosis 1
TMCO1 transmembrane and coiled-coil domains 1