GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Polar cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2025392
Disease: Polar cataract
Polar cataract 		0.020 GeneticVariation disease BEFREE A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. 21681855 2011
CUI: C2025392
Disease: Polar cataract
Polar cataract 		0.020 GeneticVariation disease BEFREE These include two missense mutations; one in GJA3 (encoding gap junction protein α3, which is also referred to as connexin 46); the mutation affects codon 19 (T19M), and the corresponding phenotype is a posterior-polar cataract. 21031021 2010