Disease: Noonan Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 28957739 2018
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573 2017
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 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
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492 2015
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 25912702 2015
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801 2014
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 23726368 2013
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 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
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158 2010
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 19509418 2009
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957 2008
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 16399795 2006
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193 2005
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		0.800 GeneticVariation UNIPROT A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2005
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685 2005
dbSNP: rs28933386
rs28933386
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease:
Noonan Syndrome 1 		G 0.800 CausalMutation CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085 2004