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: rs587780088
rs587780088
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs587780088
rs587780088
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer. 24799981 2014
dbSNP: rs587780088
rs587780088
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer. 22641385 2012
dbSNP: rs587780088
rs587780088
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335 2009
dbSNP: rs587780088
rs587780088
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956 2009
dbSNP: rs587780088
rs587780088
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009