Source: CURATED

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 25 49 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 2 1 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 2 8 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 1 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 1 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 1 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 1 8 2007 2007
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
disease 0.300 None 1.000 4 0 2007 2007
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
EPH receptor A2 0.501 0.731 1.1E-05
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
disease 0.300 None 1.000 1 0 2009 2009