Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2
0.410 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: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2
0.410 GeneticVariation disease UNIPROT Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 25915598 2015
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2
0.410 CausalMutation disease CLINVAR
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2
0.410 GeneticVariation disease CLINVAR