GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Waardenburg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.020 GeneticVariation disease BEFREE Their mother carried the GJB2 c.109G > A homozygous mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg syndrome phenotype, was observed in either parent. 29287868 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.020 Biomarker disease BEFREE Among 336 children with prelingual deafness who underwent implantation in our department between 1997 and 2007, 85 with GJB2 gene-related (Cx) deafness and 30 patients with Waardenburg syndrome (WaardS) were included. 22569142 2012