LRAT, lecithin retinol acyltransferase, 9227

N. diseases: 84; N. variants: 7
Disease: Optic Atrophy, Hereditary, Leber ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.300 Biomarker disease CTD_human Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 17011878 2006
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.300 Biomarker disease CTD_human Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis. 16250670 2005