Gene: HRAS ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 CausalMutation disease CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 GeneticVariation disease CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		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
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		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
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 CausalMutation disease 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 		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
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623 2013
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		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
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome. 22317973 2012
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report. 20658932 2011
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 GeneticVariation disease CLINVAR Functional specificity of ras isoforms: so similar but so different. 21779495 2011
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 CausalMutation disease CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		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
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 CausalMutation disease CLINVAR Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. 21834037 2011
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 CausalMutation disease CLINVAR Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. 21438134 2011
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		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
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. 20979192 2010