GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Coralliform cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1392104
Disease: Coralliform cataract
Coralliform cataract 		0.020 GeneticVariation disease BEFREE A 1361 insC mutation in the C-terminus of GJA3 is found to be associated with autosomal dominant congenital coralliform cataract. 23592915 2013
CUI: C1392104
Disease: Coralliform cataract
Coralliform cataract 		0.020 GeneticVariation disease BEFREE Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. 22312188 2012