| 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 | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Noonan Syndrome 5
|
0.800 | GeneticVariation | UNIPROT | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
LEOPARD SYNDROME 2
|
0.800 | GeneticVariation | UNIPROT | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | GeneticVariation | BEFREE | So we first reported a single mutant of RAF1 770C>T with idiopathic HCM in a very early age. | 27631234 | 2016 | |||||
Hypertrophic obstructive cardiomyopathy
|
0.010 | GeneticVariation | BEFREE | Approaching the facts between genetic mutation and clinical practice of hypertrophic cardiomyopathy: A case report with RAF1 770C>T mutant. | 27631234 | 2016 | |||||
Idiopathic pulmonary arterial hypertension
|
0.010 | GeneticVariation | BEFREE | We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal. | 25706034 | 2015 | |||||
LEOPARD SYNDROME 2
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 5
|
0.800 | CausalMutation | CLINVAR | ||||||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | RAF1 mutations in childhood-onset dilated cardiomyopathy. | 24777450 | 2014 | |||||
Single umbilical artery
|
0.700 | CausalMutation | CLINVAR | ||||||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Relative macrocephaly
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
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 | |||||
Cutaneous Melanoma
|
0.700 | GeneticVariation | CLINVAR | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | 26619011 | 2016 |