Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957

2008

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. 19063751

2008

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 [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. 17546245

2007

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR The role of Shp2 (PTPN11) in cancer. 17227708

2007

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163

2007

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Noonan syndrome. 17222357

2007

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 16377799

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 16399795

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006

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 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193

2005

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 Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. 15723289

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: 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 SHP-2 and myeloid malignancies. 14676626

2004

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. 15385933

2004

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Genetics and variation in phenotype in Noonan syndrome. 15539800

2004

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085

2004

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348

2002

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.910 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001