Gene: PTPN11 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease 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 		0.910 CausalMutation disease CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR SHP-2 and myeloid malignancies. 14676626 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease 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 		0.910 CausalMutation disease CLINVAR Genetics and variation in phenotype in Noonan syndrome. 15539800 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease 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 		0.910 CausalMutation disease CLINVAR Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. 15723289 2005
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: 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 CausalMutation disease CLINVAR PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 16377799 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 16399795 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. 17546245 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR The role of Shp2 (PTPN11) in cancer. 17227708 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Noonan syndrome. 17222357 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients. 18454468 2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. 17910045 2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957 2008