MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. 21195604 2011
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 19279422 2009
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448 2008
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. 17949294 2007
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433 2007
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 16890597 2006
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 15236166 2004