NTHL1, nth like DNA glycosylase 1, 4913

N. diseases: 57; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		0.700 Biomarker disease CLINGEN Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis. 27720914 2017
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		0.700 Biomarker disease CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		0.700 Biomarker disease CLINGEN Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. 26559593 2015
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		0.700 GermlineCausalMutation disease ORPHANET Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. 26559593 2015
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		0.700 Biomarker disease CLINGEN A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 25938944 2015
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		0.700 Biomarker disease GENOMICS_ENGLAND A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 25938944 2015
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		0.700 GermlineCausalMutation disease ORPHANET A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 25938944 2015
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		0.700 CausalMutation disease CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.390 GeneticVariation disease BEFREE Our findings suggest that biallelic mutations in NTHL1 rarely cause CRC, a personal/familial multi-tumor history, or serrated polyposis, in absence of adenomas. 31227763 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.390 GeneticVariation disease BEFREE Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. 30753826 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.390 GeneticVariation disease BEFREE We provide an overview of newly described genes and syndromes associated with predisposition to CRC and polyposis, including: polymerase proofreading-associated polyposis, NTHL1-associated polyposis, mismatch repair gene biallelic inactivation-related adenomatous polyposis (including MSH3- and MLH3-associated polyposes), GREM1-associated mixed polyposis, RNF43-associated serrated polyposis, and RPS20 mutations as a rare cause of hereditary nonpolyposis CRC. 30862463 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.390 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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.390 GeneticVariation disease BEFREE In addition to the well-established role of the DNA glycosylase gene MUTYH, biallelic mutations in which predispose to MUTYH-associated polyposis, a second DNA glycosylase gene, NTHL1, has recently been associated with adenomatous polyposis and a high colorectal cancer risk. 29105096 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.390 GeneticVariation disease BEFREE We therefore found published evidence to support the association between variants in NTHL1 and RPS20 with CRC, but not of other recently reported CRC susceptibility variants. 27713038 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.390 GeneticVariation disease BEFREE Most of the approximately 13 high-penetrance genes that predispose to CRC primarily predispose to colorectal polyps, and each gene is associated with a specific type of polyp, whether conventional adenomas (APC, MUTYH, POLE, POLD1, NTHL1), juvenile polyps (SMAD4, BMPR1A), Peutz-Jeghers hamartomas (LKB1/STK11) and mixed polyps of serrated and juvenile types (GREM1). 26169059 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.390 GeneticVariation disease BEFREE We conclude that a homozygous loss-of-function germline mutation in the NTHL1 gene predisposes to a new subtype of BER-associated adenomatous polyposis and CRC. 25938944 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.390 GeneticVariation disease BEFREE To evaluate whether sequence variants of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes might act as CRC susceptibility alleles, we screened the coding sequence and intron-exon boundaries of these genes in 94 familial CRC cases in which involvement of known genes had been excluded. 17029639 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.390 Biomarker disease GENOMICS_ENGLAND
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.360 GeneticVariation disease BEFREE Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. 30753826 2019
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.360 Biomarker 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
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.360 GeneticVariation disease BEFREE In addition to the well-established role of the DNA glycosylase gene MUTYH, biallelic mutations in which predispose to MUTYH-associated polyposis, a second DNA glycosylase gene, NTHL1, has recently been associated with adenomatous polyposis and a high colorectal cancer risk. 29105096 2018
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.360 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
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.360 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
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.360 Biomarker disease CTD_human We conclude that a homozygous loss-of-function germline mutation in the NTHL1 gene predisposes to a new subtype of BER-associated adenomatous polyposis and CRC. 25938944 2015
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.360 GeneticVariation disease BEFREE We conclude that a homozygous loss-of-function germline mutation in the NTHL1 gene predisposes to a new subtype of BER-associated adenomatous polyposis and CRC. 25938944 2015