Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.620 GeneticVariation disease BEFREE Mutations in ATP6V1B2, which encodes the B2 subunit of the vacuolar H + ATPase have previously been associated with Zimmermann-Laband syndrome 2 (ZLS2) and deafness-onychodystrophy (DDOD) syndrome. 31655144 2019
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.620 GeneticVariation disease BEFREE We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. 31257146 2019
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.620 GermlineCausalMutation disease ORPHANET De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. 24913193 2014
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.620 CausalMutation disease CLINVAR
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.620 Biomarker disease CTD_human