NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease CTD_human [Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome]. 16521404 2006
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		0.010 Biomarker disease BEFREE Xrs2/Nbs1 is a multi-functional regulatory subunit of the Mre11-Rad50-Xrs2/Nbs1 (MRX/N) complex, and its function is critical for the primary step of DSB repair, whether by homologous recombination (HR) or non-homologous end joining. 26990569 2016
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.020 Biomarker group BEFREE While DRV/r use was not significantly associated with CKD an increasing incidence with longer ATV/r use was confirmed. 31504669 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE Whereas these outcomes are associated with predisposition to malignancy in humans, similar predisposition was not observed in either Mre11(ATLD1/ATLD1) or Nbs1(DeltaB/DeltaB) mice. 15034299 2004
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE Whereas these outcomes are associated with predisposition to malignancy in humans, similar predisposition was not observed in either Mre11(ATLD1/ATLD1) or Nbs1(DeltaB/DeltaB) mice. 15034299 2004
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.120 AlteredExpression disease BEFREE When matched to a cohort of 107 breast tumors based on HercepTest HER2 expression, high grade EnCa presented with higher p95 levels (p<0.001). 25602714 2015
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.020 AlteredExpression disease BEFREE When matched to a cohort of 107 breast tumors based on HercepTest HER2 expression, high grade EnCa presented with higher p95 levels (p<0.001). 25602714 2015
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.010 Biomarker disease BEFREE When Nbs1 is conditionally inactivated in the central nervous system of mice (Nbs1-CNS-Δ), they suffer from severe cerebellar atrophy, ataxia, and white matter damage. 21279473 2011
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease BEFREE We used here antisense oligonucleotides to enforce alternative splicing in NBS patient cells and efficiently generate the same internally deleted p80-nibrin protein. 26265251 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.080 Biomarker phenotype BEFREE We thus cannot exclude a possible role of NBN in the tumorigenesis of a certain type of astrocytic tumors. 19629396 2010
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.030 AlteredExpression disease BEFREE We then measured H3T in 89 patients with metastatic breast cancer treated with trastuzumab-based therapy, and correlated the results with progression-free survival and overall survival using Kaplan–Meier and decision tree analyses that also included HER2 total (H2T) and p95 expression levels. 23959396 2013
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.160 GeneticVariation disease BEFREE We tested 67 Czech patients of different ages with simple microcephaly for the presence of the most common mutation in the NBS1 gene. 15033202 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE We screened 235 non-BRCA1/2 Korean patients with high-risk breast cancer for NBS1 mutations. 25712764 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.200 GeneticVariation disease BEFREE We screened 235 non-BRCA1/2 Korean patients with high-risk breast cancer for NBS1 mutations. 25712764 2015
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.060 Biomarker disease BEFREE We previously demonstrated that overexpression of the DNA double-strand break repair protein NBS1 is a prognostic marker of advanced head and neck squamous cell carcinoma (HNSCC). 20175780 2010
CUI: C4528408
Disease: Advanced Head and Neck Squamous Cell Carcinoma
Advanced Head and Neck Squamous Cell Carcinoma 		0.010 Biomarker disease BEFREE We previously demonstrated that overexpression of the DNA double-strand break repair protein NBS1 is a prognostic marker of advanced head and neck squamous cell carcinoma (HNSCC). 20175780 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE We performed genetic association studies in a population-based breast cancer case-control study analysing polymorphisms in genes involved in homologous recombination (NBS1, RAD52, RAD51, XRCC2 and XRCC3) and non-homologous end-joining (KU70/80 and LIG4). 12023982 2002
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.200 GeneticVariation disease BEFREE We performed genetic association studies in a population-based breast cancer case-control study analysing polymorphisms in genes involved in homologous recombination (NBS1, RAD52, RAD51, XRCC2 and XRCC3) and non-homologous end-joining (KU70/80 and LIG4). 12023982 2002
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 AlteredExpression disease BEFREE We observed that the HCAR1 agonist dihydroxybenzoic acid (DHBA) up-regulated BRCA1 (breast cancer type 1 susceptibility protein) and NBS1 (Nijmegen breakage syndrome 1) expression in HeLa cells. 28258841 2017
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.040 GeneticVariation disease BEFREE We investigated whether genetic polymorphisms of the DNA repair gene NBN are associated with head and neck cancer risk. 21472885 2012
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.040 GeneticVariation disease BEFREE We investigated whether genetic polymorphisms of the DNA repair gene NBN are associated with head and neck cancer risk. 21472885 2012
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 GeneticVariation disease BEFREE We investigated the association of urinary bladder cancer with genetic polymorphisms in the xeroderma pigmentosum complementation group C (XPC), group D (XPD) and group G (XPG), X-ray repair cross-complementing group 1 (XRCC1) and group 3 (XRCC3), Nijmegen breakage syndrome 1 (NBS1), cyclin D1, methylene-tetrahydrofolate reductase (MTHFR), NAD(P)H dehydrogenase quinone 1 (NQO1), H-ras and glutathione S-transferase theta 1 (GSTT1) genes. 14688016 2004
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.010 GeneticVariation disease BEFREE We investigated the association of urinary bladder cancer with genetic polymorphisms in the xeroderma pigmentosum complementation group C (XPC), group D (XPD) and group G (XPG), X-ray repair cross-complementing group 1 (XRCC1) and group 3 (XRCC3), Nijmegen breakage syndrome 1 (NBS1), cyclin D1, methylene-tetrahydrofolate reductase (MTHFR), NAD(P)H dehydrogenase quinone 1 (NQO1), H-ras and glutathione S-transferase theta 1 (GSTT1) genes. 14688016 2004
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 GeneticVariation disease BEFREE We investigated the 657del5 carrier status of cancer patients among blood relatives (i.e., first-, through fourth-degree relatives) of NBS patients in the Czech Republic and Slovakia to test the hypothesis that NBN heterozygotes have an increased cancer risk. 18073374 2007
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		0.010 GeneticVariation disease BEFREE We hypothesized that polymorphisms of NBS1 are associated with hepatic cancer (HCC) risk. 22070649 2012