Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. | 23756559 | 2013 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature. | 23786871 | 2013 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. | 23885229 | 2013 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation. | 22995099 | 2012 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. | 22253195 | 2012 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. | 22528146 | 2012 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. | 22419608 | 2012 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. | 21548061 | 2011 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. | 20882035 | 2010 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. | 19684605 | 2009 |