Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4913
Gene Symbol: NTHL1
NTHL1
0.040 GeneticVariation disease BEFREE Some patients with an inherited predisposition to CRC will be diagnosed with a "genetic polyposis syndrome" such as familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), polymerase proofreading associated polyposis (PPAP), NTHL1-associated polyposis, MSH3-associated polyposis or a hamartomatous polyposis syndrome. 30904095 2019
Entrez Id: 4913
Gene Symbol: NTHL1
NTHL1
0.040 Biomarker disease BEFREE On the basis of the prevalence of pathogenic MUTYH and NTHL1 variants in the normal population, we estimate that the frequency of the novel NTHL1-associated tumour syndrome is five times lower than that of MUTYH-associated polyposis. 29105096 2018
Entrez Id: 4913
Gene Symbol: NTHL1
NTHL1
0.040 Biomarker disease BEFREE Chromoendoscopy improved the diagnostic yield of anomas in MAP and FAP 3-fold, and in both MAP and FAP this resulted in a clinically significant upstaging in Spigelman score. 29702101 2018
Entrez Id: 4913
Gene Symbol: NTHL1
NTHL1
0.040 Biomarker disease BEFREE Adenomatous polyposis syndromes can be divided into; familial adenomatous polyposis (FAP) - classic FAP and attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP) and polymerase proofreading-associated polyposis (PPAP). 28331556 2017