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: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.430 0.759 1.00
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
disease 1.000 definitive 0.969 7 0 1993 2017
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
bone morphogenetic protein receptor type 1A 0.580 0.517 0.85
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
disease 1.000 definitive 1.000 4 0 2000 2017
Entrez Id: 2022
Gene Symbol: ENG
ENG
endoglin 0.477 0.655 1.00
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
disease 0.550 limited 0.800 3 0 2005 2016