Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.900 GeneticVariation UNIPROT

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT The consensus coding sequences of human breast and colorectal cancers. 16959974

2006

Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT The consensus coding sequences of human breast and colorectal cancers. 16959974

2006

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT Hereditary non-polyposis colorectal cancer (HNPCC), predominantly due to germline MLH1/MSH2 mutations, is the commonest form of hereditary colorectal cancer (CRC), but data in Asians are sparse. 15996210

2005

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT We sequenced the MLH1/MSH2 coding and promoter core regions in CRC patients diagnosed below age 40, and/or with multiple primary cancers or familial cancer clustering suggestive of HNPCC, and correlated deleterious mutations with clinical and tumour features. 15996210

2005

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 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

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene. 12792735

2004

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 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

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT These results indicate that there are different oncogenic pathways in the MSI sporadic colorectal cancers with germline missense mutations in the hMSH2 gene. 12792735

2004

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT MLH1 415C confers clinically significant susceptibility to CRC. 15184898

2004

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT In contrast to classic HNPCC, CRCs associated with MLH1 415C usually do not have the MSI defect, which is important for clinical mutation screening. 15184898

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT To investigate the involvement of the mutated hMSH2 gene in carcinogenesis, we searched for alteration of the gene in 15 MSI tumors of Japanese patients with sporadic colorectal cancer by a polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) and DNA sequencing analyses. 12792735

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 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

2004

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. 15184898

2004

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT The new MLH1 variant confers a high risk of CRC and identifies a previously unrecognized mechanism in microsatellite-stable tumors. 15184898

2004

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT Because MLH1, MSH2 and MSH6 mutations underlie high-penetrance CRC susceptibility in hereditary nonpolyposis colon cancer (HNPCC), we hypothesized that attenuated alleles might also underlie susceptibility to sporadic CRC. 15184898

2004

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT We suggest that the I1307K mutation may contribute to CRC in Israeli Arabs and that inactivating mutations of MSH2 and MLH1 may not be a major cause for early onset CRC. 12655564

2003

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer. 12132870

2002

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT Here, we describe two missense mutations in hMLH1 exon 16 associated with colorectal cancer. 10598809

2000

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients. 10882759

2000

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT Missense mutations in hMLH1 associated with colorectal cancer. 10598809

2000

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT The present study was designed to determine the frequency of germline mutations in the hMLH1 and hMSH2 genes in 31 families suspected of having hereditary nonpolyposis colorectal cancer who do not fulfill the criteria of the International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer but in whom a genetic basis for colon cancer is strongly suspected and 45 patients with sporadic early-onset colorectal cancer who developed colorectal cancer before the age of 40 years without any family history of colorectal cancer. 9559627

1998

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation UNIPROT Only one missense mutation of the hMSH2 gene was identified in 45 patients (2 percent) with sporadic early-onset colorectal cancer. 9559627

1998

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 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