Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
0.650 GermlineCausalMutation disease ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757 2015
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
0.650 Biomarker disease 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
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
0.650 GeneticVariation disease 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
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
0.650 GeneticVariation disease BEFREE Inactivating mutations in the retinoid isomerase (RPE65) or lecithin:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans. 19339306 2009
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
0.650 Biomarker disease CTD_human Inactivating mutations in the retinoid isomerase (RPE65) or lecithin:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans. 19339306 2009
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
0.650 GeneticVariation disease BEFREE Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. 17438524 2007
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
0.650 GermlineCausalMutation disease ORPHANET Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 17011878 2006
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
0.650 GeneticVariation disease BEFREE Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 17011878 2006
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
0.650 Biomarker disease GENOMICS_ENGLAND