NTHL1, nth like DNA glycosylase 1, 4913

N. diseases: 57; N. variants: 11
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 ×
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