GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Embryonal nuclear cataract (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.130 GeneticVariation disease BEFREE Characterization of a p.R76H mutation in Cx50 identified in a Chinese family with congenital nuclear cataract. 30928190 2020
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.130 GeneticVariation disease BEFREE A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a Chinese family. 20597646 2010
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.130 GeneticVariation disease BEFREE A novel mutation in GJA8 was detected in a Chinese family with autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype. 20019893 2009
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.130 Biomarker disease HPO