Source: CLINVAR

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 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 GeneticVariation CLINVAR Ras p21 proteins with high or low GTPase activity can efficiently transform NIH/3T3 cells. 3004741

1986
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 GeneticVariation CLINVAR However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders. 17412879

2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation CLINVAR The ras gene family and human carcinogenesis. 3283542

1988
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation CLINVAR Characterization of the phosphorylation sites and the surrounding amino acid sequences of the p21 transforming proteins coded for by the Harvey and Kirsten strains of murine sarcoma viruses. 6288698

1982
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation CLINVAR ras genes. 3304147

1987
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation CLINVAR Nucleotide sequence of the p21 transforming protein of Harvey murine sarcoma virus. 6287572

1982
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 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 GeneticVariation CLINVAR Nucleotide sequence of the oncogene encoding the p21 transforming protein of Kirsten murine sarcoma virus. 6287573

1982
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation CLINVAR Role of the switch II region in the conformational transition of activation of Ha-ras-p21. 10716188

2000
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation CLINVAR These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS. 16443854

2006
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 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 GeneticVariation CLINVAR rac, a novel ras-related family of proteins that are botulinum toxin substrates. 2674130

1989
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation CLINVAR This led us to review the medical histories on a cohort of proven HRAS mutation positive Costello syndrome patients, and we found a statistically significantly (P < 0.001) increased frequency of pyloric stenosis in Costello syndrome (5/58) compared to the general population frequency of 2-3/1,000. 18247425

2008
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		1.000 GeneticVariation CLINVAR A de novo heterozygous HRAS change was detected in all the subjects diagnosed with CS, while no lesion was observed with any of the other phenotypes. 17054105

2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0025202
Disease: melanoma
melanoma 		0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.460 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.450 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014