| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
NOONAN SYNDROME 8
|
0.700 | CausalMutation | CLINVAR | Recent advances in RASopathies. | 26446362 | 2016 | |||||
NOONAN SYNDROME 8
|
0.700 | CausalMutation | CLINVAR | Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. | 26757980 | 2016 | |||||
NOONAN SYNDROME 8
|
0.700 | CausalMutation | CLINVAR | Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. | 27101134 | 2016 | |||||
NOONAN SYNDROME 8
|
0.700 | CausalMutation | CLINVAR | The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. | 26242988 | 2016 | |||||
NOONAN SYNDROME 8
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. | 26714497 | 2016 | |||||
NOONAN SYNDROME 8
|
0.700 | CausalMutation | CLINVAR | Further evidence of the importance of RIT1 in Noonan syndrome. | 25124994 | 2014 | |||||
NOONAN SYNDROME 8
|
0.700 | CausalMutation | CLINVAR | Oncogenic RIT1 mutations in lung adenocarcinoma. | 24469055 | 2014 | |||||
NOONAN SYNDROME 8
|
0.700 | CausalMutation | CLINVAR | Next-generation sequencing identifies rare variants associated with Noonan syndrome. | 25049390 | 2014 | |||||
NOONAN SYNDROME 8
|
0.700 | CausalMutation | CLINVAR | Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. | 23791108 | 2013 | |||||
Blepharoptosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Increased nuchal translucency
|
0.700 | CausalMutation | CLINVAR | ||||||||
Short neck
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hydrops Fetalis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Lymphatic obstruction
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of refraction
|
0.700 | CausalMutation | CLINVAR | ||||||||
Short stature
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hypertrophic Cardiomyopathy
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Motor delay
|
0.700 | CausalMutation | CLINVAR | ||||||||
Feeding difficulties in infancy
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormal mitral valve morphology
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Atrial Septal Defects
|
0.700 | CausalMutation | CLINVAR | ||||||||
NOONAN SYNDROME 8
|
0.700 | CausalMutation | CLINVAR |