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: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		disease 0.700 None 1.000 0 11 2001 2018