Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Catalytically activating mutations in <i>Ptpn11</i>, which encodes the protein tyrosine phosphatase SHP2, cause 50% of Noonan syndrome (NS) cases, whereas inactivating mutations in <i>Ptpn11</i> are responsible for nearly all cases of the similar, but distinct, developmental disorder Noonan syndrome with multiple lentigines (NSML; formerly called LEOPARD syndrome). 29559584 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Germline missense mutations of PTPN11 are found in more than half of patients with Noonan syndrome (NS) and LEOPARD syndrome (LS), both of which are congenital developmental disorders with multiple common symptoms. 26742426 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Germline mutations in SHP2 cause developmental disorders, and somatic mutations have been identified in childhood and adult cancers and drive leukemia in mice. 27030275 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Moreover, human activating and inactivating mutations of SHP2 are responsible for two related developmental disorders called Noonan and LEOPARD Syndromes, respectively, which are both characterized, in part, by congenital heart defects. 25256404 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 Biomarker group BEFREE Structure, function, and pathogenesis of SHP2 in developmental disorders and tumorigenesis. 25039348 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Germline mutations in PTPN11, encoding Shp2, cause Noonan syndrome (NS) and LEOPARD syndrome (LS), two developmental disorders that are characterized by multiple overlapping symptoms. 24718990 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Finally, mutations in the Ptpn11 gene (encoding SHP-2) underlie the developmental disorders Noonan syndrome and Leopard syndrome characterized by congenital heart disease and hematologic abnormalities. 22512561 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Germline mutations in SHP2 are known to cause both Noonan syndrome (NS) and LEOPARD syndrome (LS), two clinically similar autosomal dominant developmental disorders. 24935154 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Such activating mutations of PTPN11 (human SHP-2 gene) were subsequently identified in individuals with Noonan syndrome, a human developmental disorder that is sometimes associated with juvenile myelomonocytic leukemia. 19622105 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Missense PTPN11 mutations cause Noonan and LEOPARD syndromes (NS and LS), two developmental disorders with pleiomorphic phenotypes. 18372317 2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 Biomarker group BEFREE Gain-of-function mutations in the PTPN11 gene, which encodes SHP-2, have been found in the leukemia-prone developmental disorder Noonan syndrome as well as sporadic childhood leukemias, indicating that SHP-2 is a bona fide human oncoprotein. 18223690 2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 Biomarker group BEFREE Mutations of the protein tyrosine phosphatase SHP-2 are implicated in human diseases, causing Noonan syndrome (NS) and related developmental disorders or contributing to leukemogenesis depending on the specific amino acid substitution involved. 17177198 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Germ-line PTPN11 mutations cause Noonan syndrome (NS), a developmental disorder characterized by an increased risk of malignancies. 16631468 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Mutations in PTPN11 cause Noonan syndrome (NS), a developmental disorder characterized by cardiac and skeletal defects. 14644997 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group BEFREE Germline mutations in PTPN11--the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2--represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short stature and facial dysmorphism, as well as skeletal, hematologic, and congenital heart defects. 15248152 2004