Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
potassium voltage-gated channel subfamily H member 1 0.542 0.731 0.55
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1
disease 0.400 None 1.000 1 6 2015 2015
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
ATPase H+ transporting V1 subunit B2 0.606 0.577 0.99
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1
disease 0.100 None 0 1