Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
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 |
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|
0.800 | GeneticVariation | UNIPROT | American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. | 24493721 | 2014 |
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|
A | 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 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 |
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|
A | 0.800 | GeneticVariation | CLINVAR | The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. | 15928039 | 2005 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. | 14644997 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. | 12717436 | 2003 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. | 12717436 | 2003 |
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|
T | 0.800 | CausalMutation | CLINVAR |