GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
0.030 GeneticVariation disease BEFREE Both Cx46 and Cx50 are crucial for lens transparency; mutations in their genes have been linked to congenital and age-related cataracts. 28124626 2017
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
0.030 AlteredExpression disease BEFREE Down-regulation of GJA3 is associated with lens epithelial cell apoptosis and age-related cataract. 28088522 2017
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
0.030 GeneticVariation disease BEFREE To investigate the role of genetic variations in three known cataract-associated genes, gap junction protein α3 (GJA3), gap junction protein α8 (GJA8), lens intrinsic membrane protein 2 (LIM2), encoding lens fiber cell membrane proteins in the development of age-related cataracts. 21386927 2011