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: 22800
Gene Symbol: RRAS2
RRAS2
RAS related 2 0.656 0.500 0.97
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.620 strong 1.000 2 0 2014 2019
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.350 1.000 0 0 2016 2019
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2 0.608 0.692 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.620 moderate 1.000 4 0 2000 2015
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.600 disputed 1.000 2 0 2015 2016
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.640 limited 1.000 3 0 2007 2019
Entrez Id: 22808
Gene Symbol: MRAS
MRAS
muscle RAS oncogene homolog 0.590 0.731 0.92
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.560 limited 1.000 2 0 2013 2019
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.800 disputed 0.957 3 0 2009 2019
Entrez Id: 5922
Gene Symbol: RASA2
RASA2
RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.510 limited 1.000 1 0 2014 2014
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 1.000 definitive 0.969 9 0 1991 2019
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.900 definitive 1.000 7 0 2013 2019
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.780 definitive 1.000 5 0 2000 2019
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.900 strong 1.000 3 0 2014 2020
Entrez Id: 6237
Gene Symbol: RRAS
RRAS
RAS related 0.543 0.808 4.7E-03
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.510 limited 1.000 2 0 2013 2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.770 moderate 1.000 6 0 2003 2019
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.680 limited 1.000 5 0 2007 2019
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 1.000 definitive 1.000 10 0 1992 2019
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.300 disputed 1.000 1 0 2016 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.640 1.000 0 0 2006 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 1.000 definitive 0.987 13 0 2001 2020
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 1.000 definitive 0.985 8 0 1993 2019