Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR Somatic PTPN11 mutations in childhood acute myeloid leukaemia. 15842656

2005
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor. 15644411

2005
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004
dbSNP: rs397507510
rs397507510
PTPN11
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
PTPN11
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
PTPN11
T 0.810 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs397507510
rs397507510
PTPN11
0.810 GeneticVariation UNIPROT Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100

2017
dbSNP: rs121918453
rs121918453
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: rs121918454
rs121918454
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: rs121918461
rs121918461
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
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: rs397507511
rs397507511
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: rs397507545
rs397507545
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: rs121918453
rs121918453
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: rs121918454
rs121918454
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: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. 25383899

2014
dbSNP: rs121918461
rs121918461
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 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