Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. | 18372317 | 2008 |
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|
G | 0.700 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 |
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|
C | 0.700 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 |
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|
C | 0.700 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 |
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|
C | 0.700 | CausalMutation | CLINVAR | The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. | 15928039 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlations in Noonan syndrome. | 15001945 | 2004 |
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|
C | 0.700 | CausalMutation | CLINVAR | Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. | 12717436 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 |
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|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |