| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome 5
|
0.800 | GeneticVariation | UNIPROT | Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. | 20683980 | 2010 | |||||
Noonan Syndrome 5
|
0.800 | GeneticVariation | UNIPROT | Noonan syndrome: clinical features, diagnosis, and management guidelines. | 20876176 | 2010 | |||||
Noonan Syndrome 5
|
0.800 | GeneticVariation | UNIPROT | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Noonan Syndrome 5
|
0.800 | GeneticVariation | UNIPROT | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
LEOPARD SYNDROME 2
|
0.800 | GeneticVariation | UNIPROT | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Noonan Syndrome 5
|
0.800 | CausalMutation | CLINVAR | ||||||||
LEOPARD SYNDROME 2
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome
|
0.710 | GeneticVariation | BEFREE | Our findings indicated that miR-195 inhibited WT and L613V RAF-1 induced hyperactive osteoblast differentiation in MC3T3-E1 cells by targeting RAF-1. miR-195 might be a novel therapeutic agent for the treatment of L613V-induced bone deformity in Noonan syndrome. | 29197556 | 2018 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. | 22826437 | 2012 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | 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 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling. | 19933846 | 2010 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. | 19953625 | 2010 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Noonan Syndrome
|
0.710 | GeneticVariation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Noonan Syndrome
|
0.710 | GeneticVariation | CLINVAR | A GaN bulk crystal with improved structural quality grown by the ammonothermal method. | 17603489 | 2007 | |||||
Dysmorphic features
|
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 | Recent advances in RASopathies. | 26446362 | 2016 | |||||
Dysmorphic features
|
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 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. | 23877478 | 2014 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | RAF1 mutations in childhood-onset dilated cardiomyopathy. | 24777450 | 2014 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | RAF1 mutations in childhood-onset dilated cardiomyopathy. | 24777450 | 2014 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. | 23613113 | 2013 |