×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
0.910
GeneticVariation
disease
UNIPROT
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
28418496
2017
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
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
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
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
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
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
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
0.910
CausalMutation
disease
CLINVAR
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
21606596
2011
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
0.910
Biomarker
disease
MGD
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
21606596
2011
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
0.910
CausalMutation
disease
CLINVAR
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
19503738
2009
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
0.910
GeneticVariation
disease
UNIPROT
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.
18334959
2008
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
0.910
GeneticVariation
disease
UNIPROT
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
17546029
2007
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
0.910
GeneticVariation
disease
UNIPROT
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
18000884
2007
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
0.910
CausalMutation
disease
CLINVAR
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
17546029
2007
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
0.910
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
167691
Gene Symbol:
LCA5
LCA5
0.910
Biomarker
disease
CTD_human