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 Biomarker CLINGEN Panel testing for rasopathies identified a novel HRAS mutation (c.179G>A; p.Gly60Asp) in three individuals with attenuated features of Costello syndrome. 25914166

2015

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN The GTP-bound form of HRAS was significantly enriched in CS compared with normal fibroblasts. 19035362

2009

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN HRAS mutations predicting p.Gly12Val, p.Gly12Asp, and p.Gly12Cys substitutions have been associated with severe, lethal, CS. 22495892

2012

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN Here, we report on a novel heterozygous HRAS germline mutation (c.187_207dup, p.E63_D69dup) in a girl presenting with a phenotype at the milder end of the Costello syndrome spectrum. 23335589

2013

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations. 17979197

2008

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN One of these conditions, Costello syndrome (CS), is typically caused by an activating de novo germline mutation in HRAS and is characterized by a wide range of cardiac, musculoskeletal, dermatological and developmental abnormalities. 24057668

2014

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN 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 Biomarker CLINGEN Costello syndrome is caused by HRAS germline mutations affecting Gly(12) or Gly(13) in >90% of cases and these are associated with a relatively homogeneous phenotype. 22821884

2012

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. 19995790

2010

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

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN The RASopathies. 23875798

2013

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cases, by germline missense HRAS mutations affecting Gly(12) promoting enhanced signaling through the MAPK and PI3K-AKT signaling cascades. 25367099

2015

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient. 25677562

2015