Source: CLINGEN

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: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 1.000 definitive 0.962 10 0 2002 2017
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.559 0.586 0.97
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 0.300 0 0