Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.800 | GeneticVariation | UNIPROT | Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. | 10413423 | 1999 |
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0.800 | GeneticVariation | UNIPROT | Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online. | 10627141 | 1998 |
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0.800 | GeneticVariation | UNIPROT | Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. | 9559627 | 1998 |
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0.800 | GeneticVariation | UNIPROT | Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. | 9833759 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | A human compound heterozygote for two MLH1 missense mutations. | 9326924 | 1997 |
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0.800 | GeneticVariation | UNIPROT | Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. | 8993976 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. | 9311737 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. | 8571956 | 1996 |
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|
0.800 | GeneticVariation | UNIPROT | Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. | 8797773 | 1996 |
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|
0.800 | GeneticVariation | UNIPROT | Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. | 8872463 | 1996 |
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|
C | 0.800 | CausalMutation | CLINVAR |