Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317

2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature 		0.100 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: C0349588
Disease: Short stature
Short stature 		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: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature 		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: C0349588
Disease: Short stature
Short stature 		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: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001