GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Cataract, Autosomal Dominant Nuclear ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852449
Disease: Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Dominant Nuclear 		0.010 GeneticVariation disease BEFREE However, an identical substitution has previously been described in GJA3 (connexin 46) leading to autosomal dominant nuclear cataract without microcornea. 18334946 2008