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: C3554599
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 		0.700 GermlineCausalMutation disease ORPHANET Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. 23352259 2013
CUI: C3554599
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 		0.700 GeneticVariation disease UNIPROT Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. 23352259 2013
CUI: C3554599
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. 23352259 2013
CUI: C3554599
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 		0.700 GeneticVariation disease CLINVAR
CUI: C3554599
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 		0.700 Biomarker disease CTD_human
CUI: C3891452
Disease: SECKEL SYNDROME 8
SECKEL SYNDROME 8 		0.400 Biomarker disease GENOMICS_ENGLAND Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
CUI: C3891452
Disease: SECKEL SYNDROME 8
SECKEL SYNDROME 8 		0.400 CausalMutation disease CLINVAR
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.320 GeneticVariation disease BEFREE Biallelic variants in DNA2 cause microcephalic primordial dwarfism. 31045292 2019
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.320 GeneticVariation disease BEFREE In addition, we have identified a novel locus for Seckel syndrome based on a consanguineous multiplex family and identified a homozygous truncating mutation in DNA2 as the likely cause. 24389050 2014
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group BEFREE Novel mutations in DNA2 associated with myopathy and mtDNA instability. 31478350 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group 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: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group BEFREE Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. 23352259 2013
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 Biomarker group HPO
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.120 GeneticVariation group BEFREE We have previously described DNA2 mutations in adult patients affected with familial and sporadic forms of mitochondrial myopathy. 31478350 2019
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.120 GeneticVariation group BEFREE We report the identification, by exome sequencing, of mutations in DNA2 in adult-onset individuals with a form of mitochondrial myopathy featuring instability of muscle mtDNA. 23352259 2013
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.120 Biomarker group 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: C0033377
Disease: Ptosis
Ptosis 		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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 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: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 GeneticVariation disease CLINVAR