Source: CLINVAR

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 0.401 0.808 1.00
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		disease 1.000 definitive 0.980 42 87 1997 2020
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		disease 1.000 definitive 0.978 15 46 1993 2019