LRAT, lecithin retinol acyltransferase, 9227

N. diseases: 84; N. variants: 7
Disease: Leber Congenital Amaurosis 14 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		0.900 Biomarker disease MGD Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations. 21224384 2011
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		0.900 Biomarker disease MGD Rpe65-/- and Lrat-/- mice: comparable models of leber congenital amaurosis. 18296659 2008
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		0.900 GeneticVariation disease UNIPROT Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. 18055821 2007
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		0.900 GeneticVariation disease UNIPROT Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 17011878 2006
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		0.900 GeneticVariation disease UNIPROT Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. 11381255 2001
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		0.900 Biomarker disease CTD_human
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		0.900 CausalMutation disease CLINVAR