macular hypoplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of the macula lutea. (Human Phenotype Ontology, HP_0001104)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001104
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Genes

4 genes associated with the macular hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL18A1 collagen, type XVIII, alpha 1
HMX1 H6 family homeobox 1
LYST lysosomal trafficking regulator
SLC45A2 solute carrier family 45, member 2