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: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0009402
Disease:
Colorectal Carcinoma 		TCC 0.700 CausalMutation CLINVAR High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 22744763 2012
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0009402
Disease:
Colorectal Carcinoma 		TCC 0.700 CausalMutation CLINVAR Frequent mutation in North African patients with MUTYH-associated polyposis. 21443744 2011
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0009402
Disease:
Colorectal Carcinoma 		TCC 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0009402
Disease:
Colorectal Carcinoma 		TCC 0.700 CausalMutation CLINVAR Implication of MYH in colorectal polyposis. 17122612 2006
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0009402
Disease:
Colorectal Carcinoma 		TCC 0.700 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997 2005
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0009402
Disease:
Colorectal Carcinoma 		TCC 0.700 CausalMutation CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000 2004