GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
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 		0.430 GeneticVariation disease BEFREE The pulverulent cataracts present in members of this family are associated with a novel GJA8 mutation, Cx50D47N, that acts as a loss-of-function mutation. 18006672 2008
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		0.430 GermlineCausalMutation disease ORPHANET A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. 18006672 2008
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		0.430 GeneticVariation disease BEFREE The pulverulent cataract described in this family is associated with a novel GJA8 mutation and has a different clinical phenotype from previously described GJA8 mutants. 16397066 2006
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		0.430 Biomarker disease BEFREE Cx50-knockout lenses also developed zonular pulverulent cataracts, and lens abnormalities were detected by P7. 9813099 1998
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		0.430 Biomarker disease HPO