MLH1, mutL homolog 1, 4292

N. diseases: 31; N. variants: 711
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 Biomarker group CTD_human Microsatellite instability: an update. 25701956 2015
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 Biomarker group CTD_human A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 Biomarker group CTD_human A CRM1-dependent nuclear export pathway is involved in the regulation of MutLα subcellular localization. 21064154 2011
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 Biomarker group CTD_human A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 Biomarker group CTD_human Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 14756672 2004