POLQ, DNA polymerase theta, 10721

N. diseases: 32; N. variants: 3
Disease: Multiple polyps ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 GeneticVariation disease BEFREE Our results, together with previously reported data and mutation frequency in controls, indicate that: MCM9 and POLQ mutations are not associated with polyposis; germline RNF43 mutations, with a prevalence of 1.5-2.5% among serrated polyposis patients, do not cause nonserrated polyposis; MSH3 biallelic mutations are highly infrequent among European polyposis patients, and the prevalence of NTHL1 biallelic mutations among unexplained polyposes is ~2%. 31243857 2019