Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome. 28027064

2017

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. 27589201

2016

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. 27195699

2016

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation 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

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome. 24169525

2014

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. 24224811

2013

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623

2013

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation CLINVAR Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. 24224811

2013

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography. 23751039

2013

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation 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

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype. 22488832

2012

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome. 22317973

2012

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report. 20658932

2011

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation CLINVAR Functional specificity of ras isoforms: so similar but so different. 21779495

2011

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 GeneticVariation 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

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. 21834037

2011

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. 21438134

2011

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation 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

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. 21344638

2011

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 CausalMutation CLINVAR Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. 20979192

2010