Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. | 19437094 | 2009 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. | 22389993 | 2012 | |||||
Pediatric failure to thrive
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. | 22389993 | 2012 | |||||
CARDIOMYOPATHY, DILATED, 1NN
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. | 23877478 | 2014 | |||||
Downward slant of palpebral fissure
|
0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Cardiac Hypertrophy
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. | 22826437 | 2012 | |||||
Intellectual Disability
|
0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Recent advances in RASopathies. | 26446362 | 2016 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. | 22389993 | 2012 | |||||
Ventricular Septal Defects
|
0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Curly hair (finding)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Growth patterns of patients with Noonan syndrome: correlation with age and genotype. | 26903553 | 2016 | |||||
Failure to thrive in infancy
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Polyhydramnios
|
0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Depressed nasal bridge
|
0.700 | CausalMutation | CLINVAR | ||||||||
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 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Ventricular Septal Defects
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR |