MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
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: C0009402
Disease:
Colorectal Carcinoma
A 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
dbSNP: rs587780088
rs587780088
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0009402
Disease:
Colorectal Carcinoma
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: C0009402
Disease:
Colorectal Carcinoma
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: C0009402
Disease:
Colorectal Carcinoma
A 0.700 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008