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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 1.000 definitive 0.957 12 0 2001 2018
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.462 0.793 0.89
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.800 definitive 1.000 11 0 1991 2016
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.420 0.690 0.53
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.770 definitive 1.000 4 0 2004 2015
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
RAS p21 protein activator 1 0.534 0.655 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.300 1 0 2017 2017