dyschromatopsia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. (Human Phenotype Ontology, HP_0007641)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007641
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Genes

10 genes associated with the dyschromatopsia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BEST1 bestrophin 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
OPA1 optic atrophy 1 (autosomal dominant)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
POLG polymerase (DNA directed), gamma
PROM1 prominin 1
TMEM126A transmembrane protein 126A