KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
Disease: Cardio-facio-cutaneous syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894360
rs104894360
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		A 0.710 CausalMutation CLINVAR Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 18456719 2008
dbSNP: rs104894360
rs104894360
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.710 GeneticVariation BEFREE We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. 17875937 2007
dbSNP: rs104894360
rs104894360
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		A 0.710 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007
dbSNP: rs104894360
rs104894360
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		A 0.710 CausalMutation CLINVAR We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. 17875937 2007
dbSNP: rs104894360
rs104894360
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		A 0.710 CausalMutation CLINVAR Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome. 17551339 2007
dbSNP: rs104894360
rs104894360
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		A 0.710 CausalMutation CLINVAR We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. 16474405 2006
dbSNP: rs104894360
rs104894360
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		A 0.710 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
dbSNP: rs104894360
rs104894360
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		A 0.710 CausalMutation CLINVAR Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572 2006