| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
CARDIOFACIOCUTANEOUS SYNDROME 2
|
0.800 | GeneticVariation | UNIPROT | Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. | 21797849 | 2012 | |||||
NOONAN SYNDROME 3
|
0.800 | GeneticVariation | UNIPROT | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 | |||||
CARDIOFACIOCUTANEOUS SYNDROME 2
|
0.800 | GeneticVariation | UNIPROT | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 | |||||
NOONAN SYNDROME 3
|
0.800 | GeneticVariation | UNIPROT | Noonan syndrome: clinical features, diagnosis, and management guidelines. | 20876176 | 2010 | |||||
NOONAN SYNDROME 3
|
0.800 | GeneticVariation | UNIPROT | Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. | 19396835 | 2009 | |||||
NOONAN SYNDROME 3
|
0.800 | GeneticVariation | UNIPROT | Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. | 17056636 | 2007 | |||||
CARDIOFACIOCUTANEOUS SYNDROME 2
|
0.800 | GeneticVariation | UNIPROT | Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. | 17056636 | 2007 | |||||
NOONAN SYNDROME 3
|
0.800 | GeneticVariation | UNIPROT | Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. | 17468812 | 2007 | |||||
CARDIOFACIOCUTANEOUS SYNDROME 2
|
0.800 | GeneticVariation | UNIPROT | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 | |||||
NOONAN SYNDROME 3
|
0.800 | GeneticVariation | UNIPROT | Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. | 16773572 | 2006 | |||||
CARDIOFACIOCUTANEOUS SYNDROME 2
|
0.800 | GeneticVariation | UNIPROT | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | 16474404 | 2006 | |||||
NOONAN SYNDROME 3
|
0.800 | GeneticVariation | UNIPROT | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 | |||||
CARDIOFACIOCUTANEOUS SYNDROME 2
|
0.800 | CausalMutation | CLINVAR | ||||||||
NOONAN SYNDROME 3
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. | 17056636 | 2007 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. | 17056636 | 2007 | |||||
Cardio-facio-cutaneous syndrome
|
0.700 | CausalMutation | CLINVAR | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | 16474404 | 2006 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | 16474404 | 2006 | |||||
Nodule
|
0.010 | GeneticVariation | BEFREE | Only one point mutation could be found in the N-ras gene codon 61 (Gly to Arg) in a cold adenomatous nodule which was monoclonal. | 11531932 | 2001 |