Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Genetic mutations in the phosphatase PTPN11 (SHP2) are associated with childhood leukemias. 30457860

2019

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Synthetic lethality of TNK2 inhibition in PTPN11-mutant leukemia. 30018082

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker BEFREE SHP2 has been shown to contribute to the progression of a number of cancer types including leukemia, gastric, and breast cancers. 29155585

2017

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Here we show that the interaction between leukemia-associated mutant Shp2 and Gab2, a scaffolding protein important for cytokine-induced PI3K/Akt signaling, was enhanced, and that the mTOR pathway was elevated in Ptpn11<sup>E76K/+</sup> leukemic cells. 27840422

2017

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker BEFREE CD244 maintains the proliferation ability of leukemia initiating cells through SHP-2/p27<sup>kip1</sup> signaling. 28126968

2017

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation 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

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker BEFREE This study reveals the critical contribution of Ptpn11 mutations in the bone marrow microenvironment to leukaemogenesis and identifies CCL3 as a potential therapeutic target for controlling leukaemic progression in Noonan syndrome and for improving stem cell transplantation therapy in Noonan-syndrome-associated leukaemias. 27783593

2016

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Activating mutations of SHP2 have been associated with developmental pathologies such as Noonan syndrome and are found in multiple cancer types, including leukaemia, lung and breast cancer and neuroblastoma. 27362227

2016

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker BEFREE Src homology region 2-containing protein tyrosine phosphatase 2 (Shp2) is associated with breast cancer, leukaemia, lung cancer, liver cancer, gastric cancer, laryngeal cancer, oral cancer and other cancer types. 26088100

2015

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation 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

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Discovery of the new binding partners for disease-related SHP2 mutants might provide a fruitful foundation for developing strategies targeting Noonan-associated leukemia. 23584145

2013

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Activating mutations in PTPN11 (encoding SHP2), a protein tyrosine phosphatase (PTP) that plays an overall positive role in growth factor and cytokine signaling, are directly associated with the pathogenesis of Noonan syndrome and childhood leukemias. 23825065

2013

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker BEFREE These findings demonstrate that Shp2 positively contributes to FLT3-ITD-induced leukemia and suggest that Shp2 inhibition may provide a novel therapeutic approach to AML. 23103841

2013

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE To elucidate the biochemical networks connecting the Kit mutant to leukemogenesis, in the present study, we performed a global profiling of tyrosine-phosphorylated proteins from mutant Kit-driven murine leukemia proerythroblasts and identified Shp2 and Stat5 as proximal effectors of Kit. 22438255

2012

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE The human gene Ptpn11, which encodes the tyrosine phosphatase Shp2, may act as a proto-oncogene because dominantly activating mutations have been detected in several types of leukemia. 21575863

2011

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Furthermore, somatic mutations of PTPN11 were found to be associated with pediatric leukemia. 19622105

2009

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation 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

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Recently, a novel class of activating mutations in PTPN11 has been documented as a somatic event in a heterogeneous group of leukemias. 16631468

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Given the association between NS and an increased risk of some malignancies, notably leukemia and probably some solid tumors including neuroblastoma (NB) and rhabdomyosarcoma (RMS), recent studies have reported that gain-of-function somatic mutations in PTPN11 occur in some hematological malignancies, especially de novo juvenile myelomonocytic leukemia (JMML) and in some solid tumors such as NB, although at a low frequency. 16518851

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Effects of a leukemia-associated gain-of-function mutation of SHP-2 phosphatase on interleukin-3 signaling. 16371368

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Here, we review recent information that has elucidated further the types and effects of PTPN11 defects in Noonan syndrome and compare them to the related, but specific, missense PTPN11 mutations causing other diseases including LEOPARD syndrome and leukemias. 16987887

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker BEFREE Our results document a strict correlation between the identity of the lesion and disease and demonstrate that NS-causative mutations have less potency for promoting SHP-2 gain of function than do leukemia-associated ones. 16358218

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE Certain germline and somatic PTPN11 mutations cause leukemias. 16399795

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 AlteredExpression BEFREE We report here that although no such mutations were detected in 44 adult leukemia patients screened, Shp2 expression levels were significantly elevated in primary leukemia cells and leukemia cell lines, as compared with normal hematopoietic progenitor cells. 16030196

2005

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation BEFREE These results suggest that the pathogenesis of NS and leukemia is associated with enhanced phosphatase activity of mutant SHP-2. 15834506

2005