| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). | 24522193 | 2014 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | NMR-based functional profiling of RASopathies and oncogenic RAS mutations. | 23487764 | 2013 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? | 21340158 | 2010 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. | 19953625 | 2010 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. | 18854871 | 2009 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. | 17143282 | 2007 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. | 17586837 | 2007 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in SOS1 cause Noonan syndrome. | 17143285 | 2007 | |||||
Abnormality of the sternum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Low-set nipples
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital pectus carinatum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of the face
|
0.700 | CausalMutation | CLINVAR | ||||||||
Fibromatosis, Gingival, Type 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Global developmental delay
|
0.700 | CausalMutation | CLINVAR | ||||||||
Multiple lentigines
|
0.700 | CausalMutation | CLINVAR | ||||||||
Neck webbing
|
0.700 | CausalMutation | CLINVAR | ||||||||
Broad neck
|
0.700 | CausalMutation | CLINVAR | ||||||||
Nevus
|
0.700 | CausalMutation | CLINVAR | ||||||||
Short stature
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cafe-au-Lait Spots
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital pectus excavatum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 4
|
0.800 | GeneticVariation | UNIPROT | SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. | 21387466 | 2011 | |||||
Noonan Syndrome 4
|
0.800 | GeneticVariation | UNIPROT | Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. | 20673819 | 2011 | |||||
Noonan Syndrome 4
|
0.800 | GeneticVariation | UNIPROT | Noonan syndrome: clinical features, diagnosis, and management guidelines. | 20876176 | 2010 |