MSH6, mutS homolog 6, 2956

N. diseases: 29; N. variants: 619
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 Biomarker disease GENOMICS_ENGLAND 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
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation disease UNIPROT A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation disease UNIPROT Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation disease UNIPROT Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995 2004
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation disease UNIPROT Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue. 14974087 2004
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation disease UNIPROT Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575 2003
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation disease UNIPROT A role for MLH3 in hereditary nonpolyposis colorectal cancer. 11586295 2001
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation disease UNIPROT Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. 10521294 1999
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation disease UNIPROT Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359 1999
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation disease UNIPROT Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 Biomarker disease CTD_human
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 Biomarker disease GENOMICS_ENGLAND