Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
LEOPARD SYNDROME 2
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 5
|
0.800 | CausalMutation | CLINVAR | ||||||||
Single umbilical artery
|
0.700 | CausalMutation | CLINVAR | ||||||||
CARDIOMYOPATHY, DILATED, 1NN
|
0.700 | CausalMutation | CLINVAR | ||||||||
Curly hair (finding)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Failure to thrive in infancy
|
0.700 | CausalMutation | CLINVAR | ||||||||
Depressed nasal bridge
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Orbital separation excessive
|
0.700 | CausalMutation | CLINVAR | ||||||||
High forehead
|
0.700 | CausalMutation | CLINVAR | ||||||||
Low-set, posteriorly rotated ears
|
0.700 | CausalMutation | CLINVAR | ||||||||
Strabismus
|
0.700 | CausalMutation | CLINVAR | ||||||||
Port-Wine Stain
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome
|
0.700 | GeneticVariation | CLINVAR | Downgrading of arts-centered education in state schools. | 1760348 | 1992 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | LEOPARD syndrome: clinical diagnosis in the first year of life. | 16523510 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | LEOPARD syndrome: clinical diagnosis in the first year of life. | 16523510 | 2006 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | LEOPARD syndrome: clinical diagnosis in the first year of life. | 16523510 | 2006 | |||||
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 | 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 | |||||
Relative macrocephaly
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Pediatric failure to thrive
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 | |||||
Downward slant of palpebral fissure
|
0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 |