Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.400 CausalMutation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.400 CausalMutation disease CLINVAR
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.400 CausalMutation disease CLINVAR
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.400 CausalMutation disease CLINVAR
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.400 CausalMutation disease CLINVAR
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.400 CausalMutation disease CLINVAR
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 867
Gene Symbol: CBL
CBL 		0.100 CausalMutation disease CLINVAR
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.400 Biomarker disease CTD_human A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803 2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. 15725481 2005
Entrez Id: 6655
Gene Symbol: SOS2
SOS2 		0.100 GeneticVariation disease CLINVAR Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 26173643 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 23726368 2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. 18331608 2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 Biomarker disease CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371 2007
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.400 Biomarker disease CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.400 Biomarker disease CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371 2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.400 Biomarker disease CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371 2007