GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: CATARACT, COPPOCK-LIKE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.330 GeneticVariation disease BEFREE A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. 22876138 2012
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.330 GermlineCausalMutation disease ORPHANET A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. 22876138 2012
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.330 GeneticVariation disease BEFREE A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. 15448617 2004
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.330 GeneticVariation disease BEFREE A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. 14627959 2003