Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Genetic features of Lynch syndrome in the Israeli population. | 25430799 | 2015 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. | 24440087 | 2014 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. | 24362816 | 2014 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. | 23760103 | 2013 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Classification of mismatch repair gene missense variants with PON-MMR. | 22290698 | 2012 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Comprehensive functional assessment of MLH1 variants of unknown significance. | 22736432 | 2012 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. | 21120944 | 2011 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). | 18383312 | 2008 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). | 16451135 | 2006 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer? | 16288214 | 2006 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | CausalMutation | CLINVAR | Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes. | 11139242 | 2001 | |||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | GeneticVariation | CLINVAR | ||||||||
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.800 | GeneticVariation | UNIPROT |