Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 25691505 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group LHGDN A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 GeneticVariation group CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 CausalMutation group CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 GeneticVariation group LHGDN A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.640 CausalMutation group CLINVAR A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes. 24689082 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes. 24689082 2014
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		0.100 CausalMutation group CLINVAR A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes. 24689082 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group LHGDN A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1. 11857745 2002
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 GeneticVariation group LHGDN A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1. 11857745 2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients. 28445943 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388 2007
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 CausalMutation group CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 CausalMutation group CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.640 GeneticVariation group CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		0.100 GeneticVariation group CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 9488480 1998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 GeneticVariation group LHGDN A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients. 17498565 2007
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.640 GeneticVariation group LHGDN A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients. 17498565 2007
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 CausalMutation group CLINVAR A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. 11585727 2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 GeneticVariation group CLINVAR A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression. 20864636 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 CausalMutation group CLINVAR A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression. 20864636 2010