Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 GeneticVariation phenotype BEFREE Activating mutations of SHP2 have been reported as a cause of various human diseases such as solid tumors, leukemia, and Noonan syndrome. 31784318 2020
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 Biomarker phenotype BEFREE In addition, the mutation rate for SHP2 is the highest for colorectal cancer (CRC) among solid tumors. 29323748 2018
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 Biomarker phenotype BEFREE Shp2 (Src-homology 2 domain-containing phosphatase 2) was originally reported as an oncogene in kinds of solid tumors and hematologic malignancies. 28085101 2017
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 Biomarker phenotype GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 GeneticVariation phenotype BEFREE Gain-of-function (GOF) mutations of protein tyrosine phosphatase nonreceptor type 11 Ptpn11 (Shp2), a protein tyrosine phosphatase implicated in multiple cell signaling pathways, are associated with childhood leukemias and solid tumors. 26755576 2016
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 GeneticVariation phenotype BEFREE Germline and somatic mutations in PTPN11 are involved in Noonan syndrome (NS), LEOPARD syndrome (LS), and hematological malignancies, as well as several solid tumors. 25039348 2014
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 GeneticVariation phenotype BEFREE Here, we report that induction of the Ptpn11(E76K/+) mutation, the most common and active Ptpn11 mutation found in leukemias and solid tumors, in primary mouse embryonic fibroblasts resulted in proliferative arrest and premature senescence. 23884424 2013
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 GeneticVariation phenotype BEFREE Gain-of-function SHP2 mutations are associated with Noonan syndrome, various kinds of leukemias, and solid tumors. 20170098 2010
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 GeneticVariation phenotype BEFREE The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome. 18328949 2008
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 GeneticVariation phenotype BEFREE Although rare in solid tumors, the identified T507K SHP-2 represents a distinct class of SHP-2 mutants with oncogenic RAS-like transforming activity, which could contribute to the development of solid tumors. 18223690 2008
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 GeneticVariation phenotype BEFREE We now know that at least one other PTP, the SH2 domain-containing phosphatase Shp2, is a bona fide oncogene that is mutated in several types of leukemia and hyperactivated by other mechanisms in some solid tumors. 17227708 2007
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.400 GeneticVariation phenotype BEFREE Here, we screened a number of solid tumors, including those documented in NS or in which deregulated RAS signaling occurs at significant frequency, for PTPN11 mutations. 16631468 2006