Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.600 Biomarker CTD_human Germ line hemiallelic methylations of MLH1 or MSH2 are termed as epimutations and have been identified as causative of Lynch syndrome. 25701956

2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.600 Biomarker GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.600 Biomarker CTD_human A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.600 Biomarker CTD_human Moreover, an MLH1-NES mutation detected in a patient with Lynch syndrome showed normal MMR activity but led to significantly impaired cytoplasmic transport after actinomycin D treatment. 21064154

2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.600 Biomarker CTD_human The hereditary colon and endometrium cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. 20020535

2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.600 Biomarker CTD_human Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 14756672

2004