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
dbSNP: rs387907205
rs387907205
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
C 0.700 GeneticVariation CLINVAR Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes. 23059812 2013
dbSNP: rs727503108
rs727503108
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
A 0.700 GeneticVariation CLINVAR High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer. 23548132 2013
dbSNP: rs387907205
rs387907205
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
C 0.700 GeneticVariation CLINVAR Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. 21797849 2012
dbSNP: rs104894359
rs104894359
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
G 0.700 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
dbSNP: rs104894365
rs104894365
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
T 0.700 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
dbSNP: rs104894366
rs104894366
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
C 0.700 GeneticVariation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
dbSNP: rs727503108
rs727503108
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
A 0.700 GeneticVariation CLINVAR The importance of evaluation of DNA amplificability in KRAS mutation testing with dideoxy sequencing using formalin-fixed and paraffin-embedded colorectal cancer tissues. 20926413 2011
dbSNP: rs104894365
rs104894365
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
T 0.700 CausalMutation CLINVAR Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature. 18958496 2009
dbSNP: rs727503108
rs727503108
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
A 0.700 GeneticVariation CLINVAR Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 19396835 2009
dbSNP: rs727503109
rs727503109
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
C 0.700 GeneticVariation CLINVAR Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature. 18958496 2009
dbSNP: rs104894365
rs104894365
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
T 0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
dbSNP: rs104894359
rs104894359
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
G 0.700 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007
dbSNP: rs104894365
rs104894365
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
T 0.700 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260 2007
dbSNP: rs104894365
rs104894365
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
T 0.700 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007
dbSNP: rs104894366
rs104894366
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
C 0.700 GeneticVariation 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: rs397517042
rs397517042
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
T 0.700 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007
dbSNP: rs727503109
rs727503109
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
C 0.700 GeneticVariation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007