Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
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
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
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
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.810 GeneticVariation UNIPROT Severe neonatal manifestations of Costello syndrome. 18039947

2008
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.810 GeneticVariation UNIPROT Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425

2008
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
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
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.810 GeneticVariation UNIPROT Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.810 GeneticVariation UNIPROT HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.810 GeneticVariation UNIPROT Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005