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: 5605
Gene Symbol: MAP2K2
MAP2K2 		mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		disease 0.600 None 1.000 0 7 2006 2016