Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Costello syndrome (disorder)
|
0.810 | GeneticVariation | UNIPROT | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 | |||||
Costello syndrome (disorder)
|
0.810 | GeneticVariation | UNIPROT | Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. | 16443854 | 2006 | |||||
Costello syndrome (disorder)
|
0.810 | CausalMutation | CLINVAR | Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. | 16443854 | 2006 | |||||
Costello syndrome (disorder)
|
0.810 | GeneticVariation | UNIPROT | HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. | 16329078 | 2006 | |||||
Costello syndrome (disorder)
|
0.810 | GeneticVariation | UNIPROT | Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. | 17054105 | 2007 | |||||
Costello syndrome (disorder)
|
0.810 | GeneticVariation | UNIPROT | Severe neonatal manifestations of Costello syndrome. | 18039947 | 2008 | |||||
Costello syndrome (disorder)
|
0.810 | GeneticVariation | BEFREE | We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations. | 17979197 | 2008 | |||||
Costello syndrome (disorder)
|
0.810 | GeneticVariation | UNIPROT | Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? | 18247425 | 2008 | |||||
Costello syndrome (disorder)
|
0.810 | CausalMutation | CLINVAR | We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations. | 17979197 | 2008 | |||||
Costello syndrome (disorder)
|
0.810 | GeneticVariation | UNIPROT | Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. | 19995790 | 2010 | |||||
Costello syndrome (disorder)
|
0.810 | CausalMutation | CLINVAR | HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome. | 21850009 | 2011 | |||||
Costello syndrome (disorder)
|
0.810 | GeneticVariation | UNIPROT | 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). | 25173338 | 2014 | |||||
Costello syndrome (disorder)
|
0.810 | CausalMutation | CLINVAR | ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. | 29493581 | 2018 |