DNA2, DNA replication helicase/nuclease 2, 1763

N. diseases: 71; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE A sensitive and stable bioassay for the detection of Aβ oligomer (Aβo), a potentially promising candidate biomarker for Alzheimer's disease (AD) diagnosis, was developed using Fe<sub>3</sub>O<sub>4</sub> magnetic nanoparticles (MNPs) as the recognition and concentration elements and BaYF<sub>5</sub>:Yb,Er upconversion nanoparticles (UCNPs) as highly sensitive labels, conjugated with the Aβo aptamer (DNA1) and the complementary oligonucleotide of the Aβo aptamer (DNA2), respectively. 28501180 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 AlteredExpression disease BEFREE To glean insights into the mechanism of action of luteolin, we assessed the effects of luteolin on NAT activity and gene expression and DNA-2-aminofluorene (AF) adduct formation in human bladder cancer T24 cells. 12680237 2003
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 GeneticVariation disease BEFREE We report a case of congenital-onset myopathy and ptosis in a child who was found to have a novel DNA2 variant resulting in a premature termination codon (p.Asn568Ilefs*4). 28554558 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.020 GeneticVariation disease BEFREE The human Bloom syndrome gene suppresses the DNA replication and repair defects of yeast dna2 mutants. 12826610 2003
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.020 GeneticVariation disease BEFREE Bloom's syndrome (BLM) helicase together with exonuclease 1 (EXO1) and DNA2 nucleases catalyze kilobase-length DNA resection on nucleosome-coated DNA. 31153714 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 GeneticVariation disease BEFREE Likewise, a defect in breast cancer 1 (BRCA1), which physically interacts with CtIP and contributes to DSB resection, also inhibited the recruitment of Dna2. 25909997 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Twenty-four hub genes were confirmed, the survival analyses from the cBioPortal online platform revealed that topoisomerase (DNA) II α (TOP2A), periostin (POSTN), plasminogen activator, urokinase (PLAU), and versican (VCAN) may be involved in the carcinogenesis and progression of Pa, and the receiver-operating characteristic curves indicated their diagnostic value for Pa. 31297881 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 AlteredExpression disease BEFREE To glean insights into the mechanism of action of luteolin, we assessed the effects of luteolin on NAT activity and gene expression and DNA-2-aminofluorene (AF) adduct formation in human bladder cancer T24 cells. 12680237 2003
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 AlteredExpression disease BEFREE This report is the first demonstration that paclitaxel affected human leukemia HL-60 cells NAT activity and DNA-2-aminofluorene adduct formation. 11955677 2002
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 GeneticVariation disease BEFREE Our findings support the pathogenicity of these variants as biallelic hypomorphic mutations, establishing DNA2 as an MPD disease gene. 31045292 2019
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		0.100 Biomarker disease HPO
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		0.100 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0266573
Disease: Congenital ptosis
Congenital ptosis 		0.100 Biomarker disease HPO
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.100 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C1862474
Disease: Decreased facial expression
Decreased facial expression 		0.100 Biomarker phenotype HPO
CUI: C4022493
Disease: Decreased mitochondrial number
Decreased mitochondrial number 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 GeneticVariation disease CLINVAR