KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193929331
rs193929331
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
dbSNP: rs193929331
rs193929331
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Tegumentary manifestations of Noonan and Noonan-related syndromes. 24037001 2013
dbSNP: rs193929331
rs193929331
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? 22211815 2012
dbSNP: rs193929331
rs193929331
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
dbSNP: rs193929331
rs193929331
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Frequent pathway mutations of splicing machinery in myelodysplasia. 21909114 2011
dbSNP: rs193929331
rs193929331
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. 17468812 2007
dbSNP: rs193929331
rs193929331
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation 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: rs193929331
rs193929331
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007