rs121918453, PTPN11

N. diseases: 19
Disease: Juvenile Myelomonocytic Leukemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
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
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.800 GeneticVariation CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918 2009
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.800 GeneticVariation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.800 GeneticVariation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039 2005
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.800 GeneticVariation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997 2004
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.800 GeneticVariation UNIPROT Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.800 GeneticVariation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.800 CausalMutation CLINVAR