Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 GeneticVariation 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
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 GeneticVariation 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
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 GeneticVariation UNIPROT Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. 17546029

2007
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		0.910 GeneticVariation UNIPROT Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. 18000884

2007