Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1
0.400 GeneticVariation UNIPROT Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 25915598

2015

Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1
0.400 CausalMutation CLINVAR

Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1
0.100 CausalMutation CLINVAR