Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1 		0.300 Biomarker disease CLINGEN
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709 2014
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		0.300 Biomarker disease CLINGEN A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair. 20603073 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT A human compound heterozygote for two MLH1 missense mutations. 9326924 1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT 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 		0.710 CausalMutation disease 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 		0.710 CausalMutation disease 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 		0.710 CausalMutation disease CLINVAR A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression. 20864636 2010
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		0.300 Biomarker disease CLINGEN A pathology atlas of the human cancer transcriptome. 28818916 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 Biomarker disease CLINGEN Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 16341550 2006
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 16341550 2006
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.300 Biomarker disease CLINGEN Adenosine nucleotide modulates the physical interaction between hMSH2 and BRCA1. 11498787 2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements. 12183410 2002
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		0.300 Biomarker disease CLINGEN Alterations of Chk1 and Chk2 expression in colon cancer. 18679694 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. 14512394 2003
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR An American founder mutation in MLH1. 21671475 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease 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
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.110 GeneticVariation disease 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
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.110 CausalMutation disease 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
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		0.300 Biomarker disease CLINGEN Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: probability of synergistic effects. 21128252 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome. 22776989 2012