aplasia/hypoplasia of the fovea Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Congenital absence or underdevelopment of the fovea centralis. (Human Phenotype Ontology, HP_0008060)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008060
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9 genes associated with the aplasia/hypoplasia 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
MITF microphthalmia-associated transcription factor
OCA2 oculocutaneous albinism II
PAX6 paired box 6
SLC38A8 solute carrier family 38, member 8
TYR tyrosinase