Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Costello syndrome (CS) is an autosomal-dominant condition caused by activating missense mutations in HRAS. 31680412 2020
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Fetal costello syndrome: a description of the phenotype of HRAS exon 1 mutations. 30937994 2020
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease 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. rs104894230" genes_norm="3265">G12A, rs104894230), which implied the clinical diagnosis of Costello syndrome (CS; OMIM#190020.0004). 30885829 2019
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. 31222966 2019
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE To examine the mechanisms of energy reprogramming by HRAS activation in vivo, we generated knock-in mice expressing a heterozygous Hras G12S mutation (Hras<sup>G12S/+</sup> mice) as a mouse model of Costello syndrome. 29254681 2018
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation disease CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Costello syndrome (CS) is a gain of function Rasopathy caused by heterozygous activating mutations in the HRAS gene. 28856719 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation disease CLINVAR Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome. 28027064 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE The clinical characteristics of the Costello syndrome individuals harboring rarer HRAS mutations are less understood, due to the small number of reported cases. 28371260 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. 28455154 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. 28337834 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. 28139825 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Costello syndrome (CS) is a rare RASopathy caused by activating mutations in the HRAS gene. 28455524 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants). 28594414 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update. 28328122 2017
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Costello syndrome (CS) is a rare congenital disorder due to a G12S amino acid substitution in HRAS protoncogene. 26419841 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Patients with the HRAS mutation c.173C>T (p.T58I) might go undiagnosed because of the milder phenotype compared with other mutations causing Costello syndrome. 26888048 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation disease CLINVAR Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. 27589201 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Costello syndrome (CS) arises from a typically paternally derived germline mutation in the proto-oncogene HRAS, and is considered a rasopathy. 27589201 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker disease BEFREE Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability. 27705751 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Costello syndrome (CS) entails a cancer predisposition and is caused by activating HRAS mutations, typically arising de novo in the paternal germline.Hypoglycemia is common in CS neonates. 26572961 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation disease BEFREE Therefore, our results also demonstrate that the phenotype in CS and somatic cancers is not only determined by the different transforming potentials of mutant HRAS proteins, but also by the efficiency of exon 2 inclusion resulting from the different HRAS mutations. 27195699 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation disease CLINVAR The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. 27195699 2016