rs193929331, KRAS

N. diseases: 2
Disease: NOONAN SYNDROME 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.800 GeneticVariation UNIPROT Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.800 GeneticVariation UNIPROT Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 19396835 2009
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.800 GeneticVariation UNIPROT Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.800 GeneticVariation UNIPROT Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. 17468812 2007
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.800 GeneticVariation UNIPROT Germline KRAS mutations cause Noonan syndrome. 16474405 2006
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.800 GeneticVariation UNIPROT Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572 2006
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.800 CausalMutation CLINVAR