HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 71; N. variants: 21
Source: CLINVAR ×
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 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 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 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 CausalMutation disease CLINVAR The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. 27195699 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation disease CLINVAR Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature. 25668678 2015
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome. 24169525 2014
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. 24224811 2013
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623 2013
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation disease CLINVAR Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. 24224811 2013
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography. 23751039 2013
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Other less common lesions in HRAS can induce a milder phenotype on the one hand and a more severe phenotype on the other broadening the spectrum of clinical manifestations in CS-affected individuals. 22926243 2012
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928 2012
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype. 22488832 2012
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome. 22317973 2012
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation disease CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928 2012
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report. 20658932 2011
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation disease CLINVAR Functional specificity of ras isoforms: so similar but so different. 21779495 2011
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation disease CLINVAR Several studies have shown that CS-associated HRAS mutations are clustered in codons 12 and 13, and mutations in other codons have also been identified. 21850009 2011
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. 21834037 2011
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. 21438134 2011
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Several studies have shown that CS-associated HRAS mutations are clustered in codons 12 and 13, and mutations in other codons have also been identified. 21850009 2011
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. 21344638 2011
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 CausalMutation disease CLINVAR Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. 20979192 2010