Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.650 | GermlineCausalMutation | disease | ORPHANET | Review and update on the molecular basis of Leber congenital amaurosis. | 25685757 | 2015 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.650 | GermlineCausalMutation | disease | ORPHANET | Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. | 17011878 | 2006 | ||||
|
0.650 | GeneticVariation | disease | BEFREE | Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. | 17011878 | 2006 | ||||
|
0.650 | Biomarker | disease | GENOMICS_ENGLAND |