Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.870 GeneticVariation BEFREE Somatic mutation (E76Q) in the interface of SH2-PTP domain is the most commonly identified mutation found in up to 35% of patients with JMML. 31244092 2019
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.870 GeneticVariation BEFREE We established mutated and non-mutated induced pluripotent stem cell (iPSC) clones from a patient with PTPN11 (c.226G>A)-mutated juvenile myelomonocytic leukaemia (JMML). 31222725 2019
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.870 GeneticVariation BEFREE Somatic mutation E76K in SHP2 is the most commonly identified mutation found in up to 35% of patients with JMML. 30129165 2018
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.870 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: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.870 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: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.870 GeneticVariation BEFREE This report describes a juvenile myelomonocytic leukemia (JMML) case with a typical PTPN11 mutation (p.E76K) at different allele frequencies in the bone marrow mononuclear cells, buccal smear cells, and fingernails at diagnosis, which was suggestive of PTPN11 somatic mosaicism; however, the PTPN11 mutation in the buccal smear cells and fingernails was lost after unrelated cord blood transplantation. 26440969 2015
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.870 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.870 GeneticVariation BEFREE Ptpn11(E76K) mutation is the most common and most active Ptpn11 mutation found in JMML and acute leukemias. 21930766 2011
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.870 GeneticVariation BEFREE Glu76 was the most commonly affected residue in JMML (n = 45), with the Glu76Lys alteration (n = 29) being most frequent. 15928039 2005
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.870 GeneticVariation UNIPROT Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
dbSNP: rs121918464
rs121918464
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
A 0.870 CausalMutation CLINVAR
dbSNP: rs397507510
rs397507510
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
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
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
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
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
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
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206 2014
dbSNP: rs397507510
rs397507510
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. 23832011 2013
dbSNP: rs397507510
rs397507510
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR The genetic landscape of high-risk neuroblastoma. 23334666 2013
dbSNP: rs397507510
rs397507510
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
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
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
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
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
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
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR Genome wide molecular analysis of minimally differentiated acute myeloid leukemia. 19773259 2009
dbSNP: rs397507510
rs397507510
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
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
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. 18925961 2008
dbSNP: rs397507510
rs397507510
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470 2006
dbSNP: rs397507510
rs397507510
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006