Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894360
rs104894360
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.720 CausalMutation CLINVAR Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 18456719

2008
dbSNP: rs104894360
rs104894360
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.720 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
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.720 CausalMutation CLINVAR Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome. 17551339

2007
dbSNP: rs104894360
rs104894360
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.720 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
dbSNP: rs104894360
rs104894360
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.720 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
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.720 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs104894360
rs104894360
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.720 CausalMutation CLINVAR Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572

2006
dbSNP: rs104894360
rs104894360
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.720 GeneticVariation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
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
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
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
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
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
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
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
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
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: rs104894360
rs104894360
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		A 0.710 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs104894360
rs104894360
KRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
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
KRAS
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		A 0.700 CausalMutation CLINVAR