HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 698; N. variants: 29
Disease: Isolated somatotropin deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C3714796
Disease:
Isolated somatotropin deficiency 		T 0.700 CausalMutation CLINVAR Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176 2009
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C3714796
Disease:
Isolated somatotropin deficiency 		T 0.700 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947 2008
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C3714796
Disease:
Isolated somatotropin deficiency 		T 0.700 CausalMutation CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105 2007
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C3714796
Disease:
Isolated somatotropin deficiency 		T 0.700 CausalMutation CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868 2006
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C3714796
Disease:
Isolated somatotropin deficiency 		T 0.700 CausalMutation CLINVAR HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351 2006
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C3714796
Disease:
Isolated somatotropin deficiency 		T 0.700 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C3714796
Disease:
Isolated somatotropin deficiency 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854 2006
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C3714796
Disease:
Isolated somatotropin deficiency 		T 0.700 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968 2006
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C3714796
Disease:
Isolated somatotropin deficiency 		T 0.700 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005