Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894359
rs104894359
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 GeneticVariation UNIPROT Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
dbSNP: rs104894359
rs104894359
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010
dbSNP: rs104894359
rs104894359
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 GeneticVariation UNIPROT Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 19396835

2009
dbSNP: rs104894359
rs104894359
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 GeneticVariation UNIPROT Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
dbSNP: rs104894359
rs104894359
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 GeneticVariation UNIPROT Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. 17468812

2007
dbSNP: rs104894359
rs104894359
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 GeneticVariation UNIPROT Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572

2006
dbSNP: rs104894359
rs104894359
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 GeneticVariation UNIPROT Germline KRAS mutations cause Noonan syndrome. 16474405

2006
dbSNP: rs104894359
rs104894359
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		T 0.800 CausalMutation CLINVAR