Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia. 28587547

2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Genetic predispositions to childhood leukemia. 23926459

2013
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Noonan syndrome and clinically related disorders. 21396583

2011
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Gain-of-function mutations in the SOS1 gene were recently described as the second major cause of NS. 19438935

2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287

2009
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general. 17603483

2007
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Our results identify SOS1 mutants as a major cause of Noonan syndrome, representing the first example of activating GEF mutations associated with human disease and providing new insights into RAS-GEF regulation. 17143285

2007
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND We have confirmed SOS1 as the second major gene for NS. 17586837

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function. 17603482

2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity. 11704759

2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 Biomarker GENOMICS_ENGLAND Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. 29959388

2019
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.800 Biomarker GENOMICS_ENGLAND Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker GENOMICS_ENGLAND Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 24006476

2014
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker GENOMICS_ENGLAND A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803

2010
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker GENOMICS_ENGLAND Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. 19775298

2009
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker GENOMICS_ENGLAND

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker GENOMICS_ENGLAND Noonan syndrome and clinically related disorders. 21396583

2011
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker GENOMICS_ENGLAND Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009