Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507510
rs397507510
0.810 GeneticVariation BEFREE Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN). 27840422

2017

dbSNP: rs397507510
rs397507510
0.810 GeneticVariation UNIPROT Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. 26742426

2016

dbSNP: rs397507510
rs397507510
0.810 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. 23832011

2013

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR The genetic landscape of high-risk neuroblastoma. 23334666

2013

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Genetic disruption of the scaffolding protein, Kinase Suppressor of Ras 1 (KSR1), differentially regulates GM-CSF-stimulated hyperproliferation in hematopoietic progenitors expressing activating PTPN11 mutants D61Y and E76K. 21555152

2011

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR To model JMML pathogenesis, we generated knockin mice that conditionally express the leukemia-associated mutant Ptpn11(D61Y). 19179468

2009

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918

2009

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Genome wide molecular analysis of minimally differentiated acute myeloid leukemia. 19773259

2009

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. 17910045

2008

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. 18925961

2008

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Somatic PTPN11 mutations in childhood acute myeloid leukaemia. 15842656

2005

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor. 15644411

2005

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. 14982869

2004

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. 15604238

2004

dbSNP: rs397507510
rs397507510
T 0.810 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003

dbSNP: rs397507510
rs397507510
0.810 GeneticVariation UNIPROT Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003