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: C0002871
Disease: Anemia
Anemia
0.010 Biomarker disease BEFREE An interaction between anemia and nephrotic proteinuria at V1 (HR=0.25, CI=0.06-1.00) was detected. 28982638 2019
CUI: C0007859
Disease: Neck Pain
Neck Pain
0.010 AlteredExpression phenotype BEFREE Orthotic devices such as the NBS may be used by computer workers to reduce the activation of their neck extensor muscles and possible risks of developing neck pain. 30608175 2019
CUI: C0008487
Disease: Chordoma
Chordoma
0.010 GeneticVariation disease BEFREE Here we show, using whole-exome and genome sequencing within a precision oncology program, that advanced chordomas (n = 11) may be characterized by genomic patterns indicative of defective homologous recombination (HR) DNA repair and alterations affecting HR-related genes, including, for example, deletions and pathogenic germline variants of BRCA2, NBN, and CHEK2. 30967556 2019
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
0.010 Biomarker disease BEFREE Hispanic infants were only detected by NBS1, and 93% had permanent CH. 31390650 2019
CUI: C0028259
Disease: Nodule
Nodule
0.010 Biomarker phenotype BEFREE The mean initial nodule area at V1 was 4.38±3.14 cm2, at V2 3.87±2.79 cm2, and at V3 3.53±2.84 cm2; P<0.04. 31322200 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 AlteredExpression disease BEFREE Expression of DIAPH2 and NBN was significantly higher in the embryos of PCOS patients that resulted in implantation, biochemical and clinical pregnancies as well as live birth compared with embryos that were negative for these outcomes (P <0.01). 30593440 2019
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
0.010 AlteredExpression disease BEFREE Our results showed that FoxM1 and NBS1 were both overexpressed in NPC tissues based on data from the GSE cohort (GSE12452). 30638177 2019
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.010 Biomarker group BEFREE This is the first case of NBAS disease detected by NBS for primary immunodeficiency. 31507590 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 Biomarker disease BEFREE Therapeutic Intranasal Vaccine HB-ATV-8 Prevents Atherogenesis and Non-alcoholic Fatty Liver Disease in a Pig Model of Atherosclerosis. 30792163 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 Biomarker disease BEFREE Therapeutic Intranasal Vaccine HB-ATV-8 Prevents Atherogenesis and Non-alcoholic Fatty Liver Disease in a Pig Model of Atherosclerosis. 30792163 2018
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.010 AlteredExpression group BEFREE The frequency of aspiration events, perceived swallowing difficulty and FOG severity at 60 Hz compared with 130 Hz stimulation at V2, and their corresponding changes at V2 compared with V1 at 60 Hz were set as primary outcomes, with similar comparisons in UPDRS-III and its subscores as secondary outcomes. 29654112 2018
CUI: C0011175
Disease: Dehydration
Dehydration
0.010 Biomarker phenotype BEFREE A simple and efficient synthesis of NBN-doped conjugated polycyclic aromatic hydrocarbons (such as diazaborinines) has been accomplished by a catalyst-free intermolecular dehydration reaction at room temperature between boronic acid and diamine moieties with yields up to 99 %. 30255542 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE Urinary creatinine-corrected NGAL (uNGALcc, ng/mg) was significantly elevated at V1 in DM+PE+ vs. DM+PE- women (<i>P</i> = 0.01); this remained significant after exclusion of leukocyte-positive samples (5 DM+PE+ and 2 DM+PE-) (<i>P</i> = 0.02). 29122892 2018
CUI: C0030353
Disease: Papilledema
Papilledema
0.010 Biomarker disease BEFREE Mean grade of papilloedema decreased from 2.2 at V0 to 0.5 at V2. 29405582 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 Biomarker group BEFREE Similarly, hs-CRP was directly related to CHD, MI, STROKE and CUORE only at V1 in the study group. 29953477 2018
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
0.010 Biomarker phenotype BEFREE We found the benefits of 60 Hz stimulation compared with 130 Hz in reducing aspiration frequency, perceived swallowing difficulty, FOG severity, bradykinesia and overall axial and motor symptoms at V1 and persistent benefits on all of them except dysphagia at V2, with overall decreasing efficacy when comparing V2 to V1. 29654112 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.010 Biomarker disease BEFREE Therapeutic Intranasal Vaccine HB-ATV-8 Prevents Atherogenesis and Non-alcoholic Fatty Liver Disease in a Pig Model of Atherosclerosis. 30792163 2018
CUI: C0426980
Disease: Motor symptoms
Motor symptoms
0.010 Biomarker phenotype BEFREE We found the benefits of 60 Hz stimulation compared with 130 Hz in reducing aspiration frequency, perceived swallowing difficulty, FOG severity, bradykinesia and overall axial and motor symptoms at V1 and persistent benefits on all of them except dysphagia at V2, with overall decreasing efficacy when comparing V2 to V1. 29654112 2018
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.010 Biomarker disease BEFREE Vaccine HB-ATV-8 administration constitutes a promissory preventive approach useful in the control of atherogenesis and fatty liver disease. 30792163 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 GeneticVariation disease BEFREE Interestingly, significantly higher levels of high density lipoprotein cholesterol (HDLc) were observed in individuals from the NBS cohort and RA patients from the Nijmegen cohort homozygous for the C allele (p = 0.0141 and p = 0.0314 respectively). 28134327 2017
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.010 GeneticVariation disease BEFREE A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA. 28374160 2017
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.010 GeneticVariation disease BEFREE Hepatitis B virus surface antigen-negative subjects with no previous treatment failure/resistance mutations and HIV-1-RNA <50 copies/mL for ≥6 months were randomized (1 : 1) to ATV/r + 3TC or ATV/r + 2NUCs. 27629070 2017
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
0.010 GeneticVariation disease BEFREE SRSF2 P95 hotspot mutations, found in 40%-50% of CMML cases, were retrospectively detected in skin and bone marrow biopsies of all 3 patients, in 1 of them already 5 years before CMML diagnosis. 28442268 2017
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease
0.010 GeneticVariation disease BEFREE In September 2016, NBS Connect had 442 registered participants: 314 (71%) individuals with PKU, 68 (15%) with MSUD, 20 (5%) with TYR, and 40 (9%) with other disorders on the NBS panel. 28724394 2017
CUI: C0030193
Disease: Pain
Pain
0.010 Biomarker phenotype BEFREE The number of patients who took at least one paracetamol tablet was similar in both groups at v1 but was significantly greater in group B than group A at v2 and v3 (p < 0.05); pain VAS scores were equivalent at v1 and significantly greater in group B than group A at v2 and v3 (p < 0.05). 27815700 2017