Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. | 26708403 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. | 26249544 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Unilateral giant cell lesion of the jaw in Noonan syndrome. | 25073238 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. | 25180280 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Evolution and functional impact of rare coding variation from deep sequencing of human exomes. | 22604720 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. | 23165751 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? | 22551697 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. | 21387466 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. | 19467855 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Genotype differences in cognitive functioning in Noonan syndrome. | 19077116 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. | 19438935 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. | 19020799 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. | 18651097 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. | 17586837 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis. | 17510059 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in SOS1 cause Noonan syndrome. | 17143285 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. | 17143282 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. | 16773572 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. | 11868160 | 2002 |