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: 284058
Gene Symbol: KANSL1
KANSL1
KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7534
Gene Symbol: YWHAZ
YWHAZ
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta 0.475 0.846 0.94
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4880
Gene Symbol: NPPC
NPPC
natriuretic peptide C 0.568 0.769 6.1E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease 0.010 None 1.000 1 0 2019 2019