LCA5, lebercilin LCA5, 167691

N. diseases: 53; N. variants: 6
Disease: LEBER CONGENITAL AMAUROSIS 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 GeneticVariation disease UNIPROT Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. 28418496 2017
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 Biomarker disease BEFREE The first substitution was predicted to eliminate a hydrogen bond and alter the tertiary structure of lebercilin, protein encoded by LCA5. 27067258 2016
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 CausalMutation disease CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 CausalMutation disease CLINVAR Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. 23946133 2013
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 CausalMutation disease CLINVAR Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. 21606596 2011
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 Biomarker disease MGD Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. 21606596 2011
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 CausalMutation disease CLINVAR Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. 19503738 2009
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 GeneticVariation disease UNIPROT Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. 18334959 2008
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 GeneticVariation disease UNIPROT Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. 17546029 2007
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 GeneticVariation disease UNIPROT Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. 18000884 2007
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 CausalMutation disease CLINVAR Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. 17546029 2007
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 Biomarker disease GENOMICS_ENGLAND
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 Biomarker disease GENOMICS_ENGLAND
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 Biomarker disease CTD_human