Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 GeneticVariation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 GeneticVariation CLINVAR

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.100 CausalMutation CLINVAR

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.100 CausalMutation CLINVAR

Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.100 CausalMutation CLINVAR

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation 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
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation 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
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.100 GeneticVariation CLINVAR Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 26173643

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation 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
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. 18331608

2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158

2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 28483241

2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561

2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328

2010