MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Colorectal Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778536
rs587778536
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: rs587778536
rs587778536
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: rs587778536
rs587778536
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. 17368238 2007
dbSNP: rs587778536
rs587778536
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584 2006