Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 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: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. 15248152

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 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: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. 15604238

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. 15689434

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 15834506

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells. 15761018

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. 15956085

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. 15996221

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Somatic PTPN11 mutations in childhood acute myeloid leukaemia. 15842656

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 15690106

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. 15985475

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations. 15710330

2005