congenital blindness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Blindness with onset at birth. (Human Phenotype Ontology, HP_0007875)
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4 genes associated with the congenital blindness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
CEP290 centrosomal protein 290kDa
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
RD3 retinal degeneration 3