GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Nuclear non-senile cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.300 GermlineCausalMutation disease ORPHANET A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. 21552498 2011
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.300 GermlineCausalMutation disease ORPHANET Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3). 20431721 2010
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.300 GermlineCausalMutation disease ORPHANET Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract. 16234473 2005