Disease Term Disease ID Gene Symbol Classification References Source
Zimmerman Laband syndrome C0796013 ATP6V1B2 Causal Pathogenic evidence from ClinVar 25915598 ClinVar
KCNH1 Causal Pathogenic evidence from ClinVar 25915598 ClinVar
KCNN3 Causal Pathogenic evidence from ClinVar 31155282 ClinVar
Zimmermann-Laband syndrome 3473 ATP6V1B2 Causal Pathogenic evidence from ClinVar - ClinVar
KCNH1 Causal Pathogenic evidence from ClinVar - ClinVar
KCNN3 Causal Pathogenic evidence from ClinVar - ClinVar
ZIMMERMANN-LABAND SYNDROME 1 C4551773 ATP6V1B2 Causal Pathogenic evidence from ClinVar - ClinVar
KCNH1 Causal Pathogenic evidence from ClinVar 25915598 ClinVar
ZIMMERMANN-LABAND SYNDROME 2 C4225321 ATP6V1B2 Causal Pathogenic evidence from ClinVar 25915598 ClinVar