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: rs765123255
rs765123255
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE These results suggest that biallelic MUTYH or OGG1 pathogenic mutations are rare in Japanese patients with early-onset CRC; however, the p.Arg19∗ and p.Arg109Trp MUTYH variants are associated with functional impairments. 24799981 2014