LRRC56, leucine rich repeat containing 56, 115399

N. diseases: 45; N. variants: 33
Disease: Costello syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.810 GeneticVariation BEFREE 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
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
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
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		A 0.810 CausalMutation CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623 2013
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		A 0.810 CausalMutation CLINVAR Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype. 22488832 2012
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		A 0.810 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		A 0.810 CausalMutation CLINVAR Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. 20112233 2010
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
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
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.810 GeneticVariation UNIPROT Severe neonatal manifestations of Costello syndrome. 18039947 2008
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		A 0.810 CausalMutation CLINVAR Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425 2008
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.810 GeneticVariation UNIPROT Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425 2008
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
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
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.810 GeneticVariation UNIPROT HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.810 GeneticVariation UNIPROT Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854 2006
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		A 0.810 CausalMutation CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405 2006
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		A 0.810 CausalMutation CLINVAR Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. 16921267 2006
dbSNP: rs121917758
rs121917758
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.810 GeneticVariation UNIPROT Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005