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: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.910 None 1.000 50 40 2001 2019
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.400 None 1.000 0 1 2007 2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.400 None 1.000 0 1 2007 2007
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.400 None 1.000 0 4 2010 2010
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.400 None 1.000 0 2 2007 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.400 None 1.000 0 8 2007 2007
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.400 None 1.000 0 8 2007 2007
Entrez Id: 6655
Gene Symbol: SOS2
SOS2 		SOS Ras/Rho guanine nucleotide exchange factor 2 0.608 0.692 1.00
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		Ras like without CAAX 1 0.527 0.808 0.13
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.100 None 0 6
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2 		RAS related 2 0.656 0.500 0.97
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.100 None 0 1
Entrez Id: 867
Gene Symbol: CBL
CBL 		Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.100 None 0 1