LRAT, lecithin retinol acyltransferase, 9227

N. diseases: 84; N. variants: 7
Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.130 GeneticVariation group BEFREE Mutations in retinoid isomerase, RPE65, or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal recycling and cause Leber congenital amaurosis (LCA), the most severe retinal dystrophy in early childhood. 24664772 2014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.130 Biomarker group BEFREE Why some photoreceptors die, while others remain dormant: lessons from RPE65 and LRAT associated retinal dystrophies. 21268677 2011
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.130 GeneticVariation group BEFREE Mutations in RPE65 or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal recycling and cause Leber congenital amaurosis (LCA), the most severe retinal dystrophy in early childhood. 21555576 2011
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.130 GeneticVariation group CLINVAR