Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 GeneticVariation BEFREE Whole exome sequencing (WES) revealed a previously well established, disease-causing heterozygous likely pathogenic variant in the Harvey rat sarcoma viral oncogene homolog (HRAS)-gene (c.35G > C, p. G12A, rs104894230), which implied the clinical diagnosis of Costello syndrome (CS; OMIM#190020.0004). 30885829 2019
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR In addition, a fatal course of CS was present in one patient with the p.G12A mutation and in another with p.G12S, there was a co-occurrence of Turner syndrome because of the distal Xp deletion. 28027064 2017
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 GeneticVariation BEFREE Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. 28455154 2017
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. 27589201 2016
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR We identified an unusual, new germline p.Gly12Val mutation, c.35_36GC>TG, in a 12-year-old boy with attenuated CS. 27195699 2016
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 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)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome. 24169525 2014
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. 24224811 2013
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 GeneticVariation BEFREE Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. 22926243 2012
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 GeneticVariation BEFREE In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals. 21850009 2011
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report. 20658932 2011
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. 21344638 2011
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals. 21850009 2011
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 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)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D. 18642361 2009
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 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)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 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)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 GeneticVariation UNIPROT Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425 2008
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 GeneticVariation UNIPROT Severe neonatal manifestations of Costello syndrome. 18039947 2008
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947 2008
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 GeneticVariation UNIPROT Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. 17412879 2007
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 GeneticVariation UNIPROT Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105 2007
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 GeneticVariation UNIPROT Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854 2006
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 GeneticVariation UNIPROT HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.840 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854 2006