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: rs199989617
rs199989617
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809 2015
dbSNP: rs199989617
rs199989617
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
dbSNP: rs199989617
rs199989617
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. 18515411 2008