MSH6, mutS homolog 6, 2956

N. diseases: 29; N. variants: 619
Disease: Lynch Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CTD_human Lynch syndrome is primarily caused by mutations in the MMR genes, mainly MLH1 and MSH2, and less frequently in MSH6, and rarely PMS2, and large genomic rearrangements account for 5-20 % of all mutations. 25701956 2015
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CTD_human A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CTD_human Lack of DNA mismatch repair protein MSH6 in the rat results in hereditary non-polyposis colorectal cancer-like tumorigenesis. 18417481 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. 18790734 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. 11709755 2002
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 11245474 2001
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CTD_human A role for MLH3 in hereditary nonpolyposis colorectal cancer. 11586295 2001
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. 10521294 1999
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. 10545954 1999
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 9390556 1997
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CTD_human Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. 7604264 1995
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CLINGEN GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. 7604265 1995