macular coloboma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. (Human Phenotype Ontology, HP_0001116)
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4 genes associated with the macular coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHD7 chromodomain helicase DNA binding protein 7
CLDN19 claudin 19
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E