GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50. 31618082 2019
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families. 29461512 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing. 28877251 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 CausalMutation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 Biomarker disease BEFREE This finding expands the mutation spectrum of GJA3 and provides useful information for further study of the molecular pathogenesis of congenital cataract. 26683566 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE Further functional studies in the GJA3 gene mutations may help uncover pathogenic mechanisms of congenital cataract and therefore provide a possible genetic therapy for this disorder. 25635993 2015
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE Identification of a novel mutation of the gene for gap junction protein α3 (GJA3) in a Chinese family with congenital cataract. 24728566 2014
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 Biomarker disease MGD Connexin46fs380 causes progressive cataracts. 25103261 2014
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE This finding is similar to that of a previous publication, thus providing further evidence that the GJA3 C-terminal domain is also its mutation area, and further expanding the mutation spectrum of GJA3 in association with congenital cataract. 23592915 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE The purpose of this project was to characterize cellular and functional properties of two congenital cataract-associated mutations located in the NH2 terminus of connexin 46: Cx46D3Y and Cx46L11S, which we found localized to gap junctional plaques like wild-type Cx46 in transfected HeLa cells. 23302783 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract. 22550389 2012
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE As the first report to relate p.P187S mutation in GJA3, it expands the mutation spectrum of GJA3 in association with congenital cataracts. 21647269 2011
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 Biomarker disease BEFREE It is further identified that GJA3 is responsible for congenital cataract. 21552498 2011
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE In the last decade or so, increasing evidences suggest that the mutations of two connexin genes, GJA3 and GJA8, are directly linked to human congenital cataracts in North and Central America, Europe and Asia. 21091421 2010
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE This is a novel missense mutation identified in the first extracellular loop of connexin 46; this expands the mutation spectrum of GJA3 in association with congenital cataract. 20431721 2010
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE These findings expand the mutation spectrum of GJA3 in association with congenital cataract. 17893674 2007
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE These findings thus expand the mutation spectrum of the GJA3 in association with congenital cataract. 17615540 2007
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE Here, we report on the identification of an amino acid sequence underlying the behavior of a non-functional mutant connexin46 (CX46) associated with congenital cataracts. 16204255 2005
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 GeneticVariation disease BEFREE PCR based Single Stranded Conformational Polymorphism (SSCP) analysis was used to screen sixty probands with nonsyndromic congenital cataract for mutations in the Cx46 gene (GJA3), followed by direct sequencing of samples that showed an electrophoretic shift. 16254549 2005