Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918465
rs121918465
PTPN11
0.800 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: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs121918465
rs121918465
PTPN11
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 23756559

2013
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918

2009
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2. 17177198

2007
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. 16518851

2006
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. 15385933

2004
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 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: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918465
rs121918465
PTPN11
0.800 GeneticVariation UNIPROT Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918465
rs121918465
PTPN11
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918465
rs121918465
PTPN11
C 0.800 CausalMutation CLINVAR