HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 698; N. variants: 29
Disease: Deep palmar crease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 CausalMutation phenotype CLINVAR Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176 2009
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 CausalMutation phenotype CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947 2008
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 CausalMutation phenotype CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105 2007
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 CausalMutation phenotype CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868 2006
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 CausalMutation phenotype CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854 2006
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 CausalMutation phenotype 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
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 CausalMutation phenotype CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968 2006
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 CausalMutation phenotype CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 CausalMutation phenotype CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.100 Biomarker phenotype HPO