Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. | 23877478 | 2014 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | RAF1 mutations in childhood-onset dilated cardiomyopathy. | 24777450 | 2014 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. | 24775816 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. | 23613113 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. | 23613113 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. | 23613113 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. | 22389993 | 2012 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. | 22389993 | 2012 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. | 22826437 | 2012 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. | 22389993 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. | 22826437 | 2012 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. | 22826437 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. | 22389993 | 2012 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 | |||||
Muscle hypotonia
|
0.700 | 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
|
0.700 | 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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome: clinical features, diagnosis, and management guidelines. | 20876176 | 2010 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome: clinical features, diagnosis, and management guidelines. | 20876176 | 2010 | |||||
Dysmorphic features
|
0.700 | 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 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome: clinical features, diagnosis, and management guidelines. | 20876176 | 2010 |