LRAT, lecithin retinol acyltransferase, 9227

N. diseases: 84; N. variants: 7
Disease: Retinal Dystrophy, Early Onset Severe ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		0.320 GermlineCausalMutation disease ORPHANET Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study. 22570351 2012
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		0.320 GeneticVariation disease BEFREE One hundred fifty-three patients with LCA and EOSRD were screened using an array (Asper Ophthalmics, Tartu, Estonia) containing 344 published disease-causing variants and polymorphisms in eight genes: AIPL1, GUCY2D, CRB1, CRX, RPGRIP1, RPE65, MERTK, and LRAT. 18055820 2007
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		0.320 GeneticVariation disease BEFREE Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. 11381255 2001