GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
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 Our findings expand the spectrum of Cx50 mutations that are associated with autosomal dominant congenital pulverulent nuclear cataract. 25947639 2015
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.330 GermlineCausalMutation disease ORPHANET A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. 18006672 2008
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.330 GeneticVariation disease BEFREE A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract. 18334966 2008
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.330 GeneticVariation disease BEFREE Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. 10480374 1999