Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. | 18033691 | 2008 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | BEFREE | The MLH1 D132H risk variant has significantly lower allele frequency in American compared with Israeli cancer patients and, alone, is unlikely to explain significant amounts of American sporadic colorectal cancer or uterine cancer susceptibility. | 15991064 | 2005 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | Association studies identified a new MLH1 variant (415G-->C, resulting in the amino acid substitution D132H) in approximately 1.3% of Israeli individuals with CRC self-described as Jewish, Christian and Muslim. | 15184898 | 2004 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | BEFREE | Association studies identified a new MLH1 variant (415G-->C, resulting in the amino acid substitution D132H) in approximately 1.3% of Israeli individuals with CRC self-described as Jewish, Christian and Muslim. | 15184898 | 2004 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | Genetic analysis of familial colorectal cancer in Israeli Arabs. | 12655564 | 2003 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases. | 14504054 | 2003 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer. | 12132870 | 2001 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients. | 10882759 | 2000 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | Missense mutations in hMLH1 associated with colorectal cancer. | 10598809 | 1999 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer. | 9611074 | 1998 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. | 9087566 | 1997 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. | 9032648 | 1997 | |||||
Colorectal Carcinoma
|
0.720 | GeneticVariation | UNIPROT | Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. | 8872463 | 1996 |