NUP42, nucleoporin 42, 11097

N. diseases: 11; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 Biomarker disease BEFREE The risk of progression to ESRD of patients with CG II and III was significantly higher than that of patients with CG I. 30367317 2019
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 Biomarker disease BEFREE The risk of progression to ESRD of patients with CG II and III was significantly higher than that of patients with CG I. 30367317 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.010 Biomarker disease BEFREE We have identified two novel loci (in or near the genes KLHL7/NUPL2 and DLG2) that may play a role in COPD pathogenesis in Hispanic populations. 25584925 2015
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 Biomarker disease BEFREE By multivariate analysis, diabetes (95% confidence interval [CI]: 1.9-13.2, P< .001), prior ESBL E coli colonization (<90 days) (95% CI: 1.2-67.8, P< .001), recent receipt of antibiotics (<90 days) (95% CI: 4.2-44.2, P= .004), and previous exposure to third-generation cephalosporins (95% CI: 2.2-16.4, P= .001) and fluoroquinolones (95% CI: 1.4-18.3; P= .003) were associated risks among CG I. Diabetes (95% CI: 1.6-15.4, P= .005), stroke (95% CI: 1.5-17.1, P= .001), and diarrhea (95% CI: 3.8-65.8, P= .001) were risks among CG II. 17980240 2007
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE By multivariate analysis, diabetes (95% confidence interval [CI]: 1.9-13.2, P< .001), prior ESBL E coli colonization (<90 days) (95% CI: 1.2-67.8, P< .001), recent receipt of antibiotics (<90 days) (95% CI: 4.2-44.2, P= .004), and previous exposure to third-generation cephalosporins (95% CI: 2.2-16.4, P= .001) and fluoroquinolones (95% CI: 1.4-18.3; P= .003) were associated risks among CG I. Diabetes (95% CI: 1.6-15.4, P= .005), stroke (95% CI: 1.5-17.1, P= .001), and diarrhea (95% CI: 3.8-65.8, P= .001) were risks among CG II. 17980240 2007
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.010 Biomarker phenotype BEFREE By multivariate analysis, diabetes (95% confidence interval [CI]: 1.9-13.2, P< .001), prior ESBL E coli colonization (<90 days) (95% CI: 1.2-67.8, P< .001), recent receipt of antibiotics (<90 days) (95% CI: 4.2-44.2, P= .004), and previous exposure to third-generation cephalosporins (95% CI: 2.2-16.4, P= .001) and fluoroquinolones (95% CI: 1.4-18.3; P= .003) were associated risks among CG I. Diabetes (95% CI: 1.6-15.4, P= .005), stroke (95% CI: 1.5-17.1, P= .001), and diarrhea (95% CI: 3.8-65.8, P= .001) were risks among CG II. 17980240 2007
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 Biomarker group BEFREE By multivariate analysis, diabetes (95% confidence interval [CI]: 1.9-13.2, P< .001), prior ESBL E coli colonization (<90 days) (95% CI: 1.2-67.8, P< .001), recent receipt of antibiotics (<90 days) (95% CI: 4.2-44.2, P= .004), and previous exposure to third-generation cephalosporins (95% CI: 2.2-16.4, P= .001) and fluoroquinolones (95% CI: 1.4-18.3; P= .003) were associated risks among CG I. Diabetes (95% CI: 1.6-15.4, P= .005), stroke (95% CI: 1.5-17.1, P= .001), and diarrhea (95% CI: 3.8-65.8, P= .001) were risks among CG II. 17980240 2007
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders
0.010 GeneticVariation group BEFREE PEX1 mutation was delineated to be the genetic cause of PBD in the most highest incidence group, CG-E (the same as CG-I). 11330042 2000
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
0.010 GeneticVariation disease BEFREE Mutation analysis of the CG1 gene in DFNA5 patients, however, could not reveal a disease-causing mutation. 9450185 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.010 Biomarker disease BEFREE These new genes are located within a region that may well contain the gene responsible for hemochromatosis and have therefore been named HCG I-VII (Hemochromatosis Candidate Gene). 8490624 1993
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.010 Biomarker disease BEFREE These new genes are located within a region that may well contain the gene responsible for hemochromatosis and have therefore been named HCG I-VII (Hemochromatosis Candidate Gene). 8490624 1993