| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Recent advances in RASopathies. | 26446362 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Growth patterns of patients with Noonan syndrome: correlation with age and genotype. | 26903553 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. | 23877478 | 2014 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | RAF1 mutations in childhood-onset dilated cardiomyopathy. | 24777450 | 2014 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. | 23613113 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. | 22826437 | 2012 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. | 22389993 | 2012 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Noonan syndrome: clinical features, diagnosis, and management guidelines. | 20876176 | 2010 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. | 20052757 | 2010 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. | 19437094 | 2009 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | LEOPARD syndrome: clinical diagnosis in the first year of life. | 16523510 | 2006 |