Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
CUI: C0086543
Disease: Cataract
Cataract 		0.100 GeneticVariation LHGDN These findings expand the mutation spectrum of GJA3 in association with congenital cataract. 17893674

2007
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
CUI: C0086543
Disease: Cataract
Cataract 		0.100 GeneticVariation LHGDN It is also the first reported cataract-causing mutation in the NH2-terminal region of the Cx46 protein. 16885921

2006
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
CUI: C0086543
Disease: Cataract
Cataract 		0.100 GeneticVariation LHGDN 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
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
CUI: C0086543
Disease: Cataract
Cataract 		0.100 GeneticVariation LHGDN A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. 15286166

2004