Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 167691
Gene Symbol: LCA5
LCA5 		0.300 Biomarker disease CTD_human Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. 17546029 2007
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.300 Biomarker disease CTD_human Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. 16150724 2005
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.300 Therapeutic disease CTD_human Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. 16150724 2005
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.300 Biomarker disease CTD_human Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. 16226919 2005
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.300 Therapeutic disease CTD_human Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. 16226919 2005
Entrez Id: 471
Gene Symbol: ATIC
ATIC 		0.300 Biomarker disease CTD_human AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 15114530 2004