GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Microcornea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266544
Disease: Microcornea
Microcornea 		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