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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:chronic progressive external ophthalmoplegia
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Accession:DOID:12558 term browser browse the term
Definition:A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
Synonyms:exact_synonym: CPEO;   Graefe Disease;   Graefe's Disease;   Mitochondrial Ocular Myopathy;   Ocular Muscular Dystrophies;   Ocular Muscular Dystrophy;   Ocular Myopathy of Von Graefe Fuchs;   Progressive external ophthalmoplegia
 narrow_synonym: chronic progressive external ophthalmoplegia with myopathy, somatic;   progressive external ophthalmoplegia with mitochondrial DNA deletions
 related_synonym: progressive external ophthalmoplegia, proximal myopathy, and sudden death
 primary_id: MESH:D017246
 xref: EFO:0002509;   GARD:4503;   ICD10CM:H49.4;   ICD9CM:378.72;   OMIM:PS157640
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)		 CTD
RGD		 PMID:17923349 PMID:11431686 PMID:17420318 PMID:16401742 PMID:12565911 More... RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar
RGD		 PMID:12565915 PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Twnk twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions		 ClinVar
RGD		 PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More... RGD:1600544 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		 OMIM
CTD
ClinVar		 PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ClinVar PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 More... NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 OMIM
ClinVar		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh1 ribonuclease H1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 More... NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 More... NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 OMIM
ClinVar		 PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:36544354 More... NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559 		JBrowse link
Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder OMIM
ClinVar		 PMID:25741868 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar		 PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More... NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar		 PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic		 CTD
ClinVar		 PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12707443 PMID:12872260 PMID:18575922 PMID:18973250 PMID:19084593 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      eye disease 3491
        ocular motility disease 249
          ophthalmoplegia 81
            chronic progressive external ophthalmoplegia 29
              CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 3
              Familial Horizontal Gaze Palsy with Progressive Scoliosis + 2
              Kearns-Sayre syndrome 11
              Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive + 10
              Progressive External Ophthalmoplegia with Myoclonus 0
              autosomal dominant progressive external ophthalmoplegia 1 3
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 2
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    mitochondrial myopathy 123
                      chronic progressive external ophthalmoplegia 29
                        CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 3
                        Familial Horizontal Gaze Palsy with Progressive Scoliosis + 2
                        Kearns-Sayre syndrome 11
                        Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive + 10
                        Progressive External Ophthalmoplegia with Myoclonus 0
                        autosomal dominant progressive external ophthalmoplegia 1 3
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 2
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 0
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