MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Adenocarcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 GeneticVariation group BEFREE We generated SPDEF-inducible human colonoids, including a line derived from normal rectal mucosa (control) and an adenocarcinoma line derived from a patient with germline MUTYH mutation. 28390865 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 GeneticVariation group BEFREE The MUTYH His/His genotype was at a borderline increased risk for both adenocarcinoma and squamous cell carcinoma (adjusted OR 2.50, 95%CI 0.95-6.62, p = 0.065 for adenocarcinoma; adjusted OR 3.20, 95%CI 0.89-11.49, p = 0.075 for squamous cell carcinoma, respectively). 19161591 2009
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 GeneticVariation group LHGDN Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. 18186383 2007