GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Cataract, Pulverulent ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		0.310 GermlineCausalMutation disease ORPHANET A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. 22876138 2012
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		0.310 GeneticVariation disease BEFREE The present study identified a novel mutation (c.559C>T) in the GJA3 gene associated with autosomal dominant pulverulent cataracts in a Chinese family. 21647269 2011