abnormality of the fovea Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. (Human Phenotype Ontology, HP_0000493)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000493
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11 genes associated with the abnormality of the fovea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
ELP4 elongator acetyltransferase complex subunit 4
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
MFRP membrane frizzled-related protein
MITF microphthalmia-associated transcription factor
OCA2 oculocutaneous albinism II
PAX6 paired box 6
RAB28 RAB28, member RAS oncogene family
SLC38A8 solute carrier family 38, member 8
TYR tyrosinase