Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.810 | GeneticVariation | BEFREE | Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. | 28371260 | 2017 |
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|
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 |
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|
A | 0.810 | GeneticVariation | CLINVAR | Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. | 24224811 | 2013 |
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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 |
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|
0.810 | GeneticVariation | UNIPROT | Severe neonatal manifestations of Costello syndrome. | 18039947 | 2008 |
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0.810 | GeneticVariation | UNIPROT | Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? | 18247425 | 2008 |
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|
0.810 | GeneticVariation | UNIPROT | Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. | 17054105 | 2007 |
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0.810 | GeneticVariation | UNIPROT | Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. | 16443854 | 2006 |
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0.810 | GeneticVariation | UNIPROT | HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. | 16329078 | 2006 |
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|
T | 0.810 | CausalMutation | CLINVAR | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 |
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|
0.810 | GeneticVariation | UNIPROT | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 |