rs104894226, LRRC56;HRAS

N. diseases: 29
Disease: Costello syndrome (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 GeneticVariation BEFREE Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. 28371260 2017
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 GeneticVariation CLINVAR Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. 24224811 2013
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 GeneticVariation UNIPROT 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
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 GeneticVariation UNIPROT Severe neonatal manifestations of Costello syndrome. 18039947 2008
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 GeneticVariation UNIPROT Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425 2008
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 GeneticVariation UNIPROT Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105 2007
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 GeneticVariation UNIPROT Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854 2006
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 GeneticVariation UNIPROT HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.810 GeneticVariation UNIPROT Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005