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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:mitochondrial myopathy
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Accession:DOID:699 term browser browse the term
Definition:A myopathy that is characterized by mitochondrial dysfunction. (DO)
Synonyms:exact_synonym: Luft disease;   Luft's Disease;   Lufts Disease;   Megaconial Myopathy;   Mitochondrial Myopathies;   Pleoconial Myopathies;   megaconial myopathies;   pleoconial myopathy
 narrow_synonym: MITOCHONDRIAL MYOPATHY, ISOLATED;   MYOPATHY, MITOCHONDRIAL, LATE-ONSET;   MYOTONIC DYSTROPHY-LIKE MYOPATHY;   skeletal myopathy, responsive to riboflavin
 primary_id: MESH:D017240
 alt_id: OMIM:251900
 xref: NCI:C101328
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,792,795...47,185,951
Ensembl chr10:46,792,936...47,185,416 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:28492532 PMID:30311386 NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 ISO DNA:mutations:cds: RGD PMID:23352259 RGD:10401079 NCBI chr 4:19,626,001...19,683,819
Ensembl chr 4:19,626,977...19,684,660 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO mRNA:increased expression:muscle: RGD PMID:23107834 RGD:8694159 NCBI chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653 		JBrowse link
G FDX2 ferredoxin 2 ISO OMIM NCBI chr20:50,798,250...50,802,477 JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:30311386 NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28430790 PMID:28492532 NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:28027978 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17486094 PMID:19138848 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies RGD
ClinVar		 PMID:16155110 PMID:25741868 PMID:30311386 RGD:1580619 NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		JBrowse link
G SLC25A42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576 NCBI chr20:44,043,672...44,074,691
Ensembl chr20:44,044,665...44,065,282 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G VDAC1 voltage dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8726225 NCBI chr11:22,197,814...22,212,924
Ensembl chr11:22,197,949...22,212,924 		JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)		 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility ISO DNA:missense mutation:cds:p.P1073L (3218C>T) (human) OMIM
RGD		 PMID:20142534 RGD:15039298 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 3:52,260,872...52,282,532
Ensembl chr 3:52,260,944...52,282,134 		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 PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		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 OMIM NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		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 OMIM NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		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: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 NCBI chr 9:12,251,085...12,266,608
Ensembl chr 9:12,251,186...12,266,605 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO OMIM NCBI chr 9:12,258,188...12,298,376
Ensembl chr 9:12,269,990...12,298,272 		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 OMIM NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		JBrowse link
autosomal dominant 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 DNA2 DNA replication helicase/nuclease 2 ISO OMIM NCBI chr 4:19,626,001...19,683,819
Ensembl chr 4:19,626,977...19,684,660 		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 PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:16754800 PMID:23549607 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25637381 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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 OMIM NCBI chr17:2,117,446...2,127,893
Ensembl chr17:2,117,446...2,127,893 		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 OMIM NCBI chr 5:82,730,514...82,758,153
Ensembl chr 5:82,729,150...82,756,457 		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 OMIM NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		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 OMIM NCBI chr 5:41,262,820...41,290,101
Ensembl chr 5:41,263,017...41,290,100 		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:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:16754800 PMID:23549607 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25637381 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779 		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:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25326637 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30843307 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
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 chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		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 chr 9:12,251,085...12,266,608
Ensembl chr 9:12,251,186...12,266,605 		JBrowse link
G MYF5 myogenic factor 5 ISO ClinVar Annotator: match by term: Chronic progressive external ophthalmoplegia ClinVar PMID:10844060 PMID:29887215 NCBI chr15:23,049,235...23,051,604
Ensembl chr15:23,048,585...23,051,970 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)		 CTD
RGD		 PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 PMID:17923349 RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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 chr 9:12,258,188...12,298,376
Ensembl chr 9:12,269,990...12,298,272 		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 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RGD
ClinVar		 PMID:12565915 PMID:15792871 RGD:1580620 RGD:1580622 NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G TWNK twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar Annotator: match by term: Progressive external ophthalmoplegia		 RGD
ClinVar		 PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28812649 RGD:1600544 NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVIL advillin ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar NCBI chr10:1,855,598...1,875,156
Ensembl chr10:1,856,162...1,872,303 		JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 ISO OMIM NCBI chr10:1,833,759...1,842,646 JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO OMIM NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 ClinVar PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689 		JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C26H12orf65 chromosome 26 C12orf65 homolog ISO OMIM NCBI chr26:6,296,859...6,310,684
Ensembl chr26:6,296,266...6,310,669 		JBrowse link
G MPHOSPH9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr26:6,308,313...6,379,937
Ensembl chr26:6,310,878...6,376,170 		JBrowse link
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDX2 ferredoxin 2 ISO OMIM NCBI chr20:50,798,250...50,802,477 JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:16155110 PMID:25741868 PMID:30311386 NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		JBrowse link
G SLC25A42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576 NCBI chr20:44,043,672...44,074,691
Ensembl chr20:44,044,665...44,065,282 		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 chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:9,563,353...9,579,111
Ensembl chr 5:9,563,345...9,579,289 		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 OMIM NCBI chr 5:9,563,353...9,579,111
Ensembl chr 5:9,563,345...9,579,289 		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 OMIM NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC481187 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 PMID:14994243 PMID:16326995 PMID:18924171 PMID:23643385 PMID:25741868 PMID:25959673 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:16326995 PMID:18924171 PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 PMID:30311386 NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA5 cytochrome c oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:44,073,218...44,080,346
Ensembl chr10:43,931,673...44,080,347 		JBrowse link
G COA6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:5,447,252...5,454,500
Ensembl chr 4:5,447,249...5,454,456 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
G LOC481187 protein SCO2 homolog, mitochondrial ISO OMIM NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX15 cytochrome c oxidase assembly homolog COX15 ISO OMIM NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA5 cytochrome c oxidase assembly factor 5 ISO OMIM NCBI chr10:44,073,218...44,080,346
Ensembl chr10:43,931,673...44,080,347 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA6 cytochrome c oxidase assembly factor 6 ISO OMIM NCBI chr 4:5,447,252...5,454,500
Ensembl chr 4:5,447,249...5,454,456 		JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIAS lipoic acid synthetase ISO OMIM NCBI chr 3:72,973,527...72,989,522
Ensembl chr 3:72,949,512...72,989,487 		JBrowse link
G RPL9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 3:72,989,526...72,993,944
Ensembl chr 3:72,989,592...72,993,949 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208 		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 chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		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:7,964...8,644
Ensembl chr MT:7,964...8,644 		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:7,803...8,006
Ensembl chr MT:7,803...8,006 		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:8,644...9,427
Ensembl chr MT:8,644...9,427 		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:9,496...9,841
Ensembl chr MT:9,496...9,842 		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:10,201...11,578
Ensembl chr MT:10,201...11,578 		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:11,778...13,598
Ensembl chr MT:11,778...13,598 		JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,911...10,207
Ensembl chr MT:9,911...10,207 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
MELAS 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 chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:127819 PMID:6213205 PMID:7987332 PMID:8019558 PMID:8572257 PMID:9450881 PMID:9742104 PMID:11069477 PMID:11175301 PMID:20301595 PMID:31965079 NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO DNA:mutation:exon:m.9957T>C (F251L)(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18587274 RGD:5491184 NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snps:cds:m.3697G>A, m.3946G>A, m.3949T>C (human)
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD Direct Evidence: marker/mechanism		 RGD
ClinVar
CTD		 PMID:15466014 PMID:15972314 PMID:16849371 PMID:16969869 PMID:17535832 PMID:17562939 PMID:18504678 PMID:18590963 PMID:18977334 PMID:21364701 PMID:24830958 RGD:5490235 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1323207 PMID:3395302 PMID:8213827 NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO DNA:mutation:exon:m.13513G>A (D393N)(human)
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:p. D393N, M237T (human)
DNA:mutation:exon:m.13849A>C (N505H)(human) 		RGD
ClinVar
CTD		 PMID:9299505 PMID:10589546 PMID:12509858 PMID:12624137 PMID:12796552 PMID:14520659 PMID:14730434 PMID:15576045 PMID:15767514 PMID:16306525 PMID:16816025 PMID:17400793 PMID:18332249 PMID:18587274 PMID:18977334 PMID:21850008 PMID:22249460 PMID:22577219 PMID:25741868 PMID:26894521 RGD:5491173 RGD:5491184 RGD:5507825 NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:11781695 NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22499341 NCBI chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
MERRF 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 chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 ClinVar PMID:28492532 NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
G JPH1 junctophilin 1 ISO ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 ClinVar PMID:28492532 NCBI chr29:22,701,531...22,785,712
Ensembl chr29:22,703,647...22,785,415 		JBrowse link
G LY96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 ClinVar PMID:28492532 NCBI chr29:22,493,757...22,515,147
Ensembl chr29:22,493,896...22,515,117 		JBrowse link
G TMEM70 transmembrane protein 70 ISO OMIM NCBI chr29:22,475,961...22,487,920
Ensembl chr29:22,478,941...22,487,741 		JBrowse link
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGME1 mitochondrial genome maintenance exonuclease 1 ISO OMIM NCBI chr24:5,068,147...5,083,941 JBrowse link
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant ClinVar PMID:21415153 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr 2:81,612,382...81,627,742 JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant ClinVar PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO OMIM NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		JBrowse link
mitochondrial DNA depletion syndrome 12b 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 OMIM NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		JBrowse link
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXL4 F-box and leucine rich repeat protein 4 ISO OMIM NCBI chr12:57,139,183...57,211,157
Ensembl chr12:57,139,491...57,211,137 		JBrowse link
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO OMIM NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593 		JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFAM transcription factor A, mitochondrial ISO OMIM NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058 		JBrowse link
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO OMIM NCBI chr22:3,440,908...3,478,683
Ensembl chr22:3,440,923...3,478,683 		JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G TWNK twinkle mtDNA helicase ISO OMIM NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		JBrowse link
mitochondrial DNA depletion syndrome 8A 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		JBrowse link
G LOC481187 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy		 ClinVar PMID:2005900 PMID:10852545 PMID:12529715 PMID:19853446 PMID:23643385 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency		 ClinVar PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16638794 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22863191 PMID:22931735 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23811324 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26104464 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27119776 PMID:27538604 PMID:27987238 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO OMIM NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		JBrowse link
mitochondrial encephalomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C26H12orf65 chromosome 26 C12orf65 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20598281 NCBI chr26:6,296,859...6,310,684
Ensembl chr26:6,296,266...6,310,669 		JBrowse link
G COQ7 coenzyme Q7, hydroxylase ISO protein:decreased expression:heart (mouse) RGD PMID:23255162 RGD:10402107 NCBI chr 6:25,912,936...25,922,123
Ensembl chr 6:25,912,954...25,929,655 		JBrowse link
G DNM1L dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30177229 PMID:30869852 NCBI chr35:5,389,694...5,887,911
Ensembl chr35:5,460,664...5,948,574 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:23993194 PMID:25558065 PMID:25741868 PMID:25868664 PMID:27743463 NCBI chr12:57,139,183...57,211,157
Ensembl chr12:57,139,491...57,211,137 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20858599 NCBI chr 5:8,239,740...8,247,341
Ensembl chr 5:8,240,132...8,247,314 		JBrowse link
G LOC481187 protein SCO2 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 PMID:23345593 NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		JBrowse link
G MFF mitochondrial fission factor ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:22499341 PMID:25558065 NCBI chr25:40,111,860...40,142,246
Ensembl chr25:40,111,894...40,141,776 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:11047755 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 7:75,150,293...75,184,084
Ensembl chr 7:75,150,415...75,184,067 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:mutations:cds:p.N846S, p.P587L(human) RGD PMID:12825077 RGD:8694177 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G TMEM70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chr29:22,475,961...22,487,920
Ensembl chr29:22,478,941...22,487,741 		JBrowse link
Mitochondrial Encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA:mutations: :m. 10191T>C, 10158T>C(human) RGD PMID:14705112 RGD:5507824 NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:25741868 NCBI chr 1:113,749,778...113,758,480
Ensembl chr 1:113,749,994...113,757,930 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA8 patatin like phospholipase domain containing 8 ISO OMIM NCBI chr18:12,134,921...12,181,496
Ensembl chr18:12,141,830...12,179,974 		JBrowse link
Mitochondrial Myopathy, and Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO OMIM NCBI chr 7:42,000,141...42,003,941
Ensembl chr 7:42,000,092...42,003,891 		JBrowse link
Mitochondrial Myopathy, Infantile, Transient term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:12414820 NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:8186719 PMID:8910895 PMID:8988236 PMID:10502593 PMID:11464242 PMID:11601507 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:20018511 NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598 		JBrowse link
Mitochondrial Myopathy, Lethal Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMU tRNA mitochondrial 2-thiouridylase ISO DNA:mutations:multiple RGD PMID:23625533 RGD:21066346 NCBI chr10:19,841,813...19,859,514
Ensembl chr10:19,841,854...19,859,470 		JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFER growth factor, augmenter of liver regeneration ISO OMIM NCBI chr 6:38,948,927...38,951,300
Ensembl chr 6:38,949,484...38,951,703 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO OMIM NCBI chr26:28,742,466...28,744,370
Ensembl chr26:28,742,526...28,744,369 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia ClinVar PMID:28492532 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957 		JBrowse link
G PUS1 pseudouridine synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia		 CTD
ClinVar		 PMID:28492532 NCBI chr26:955,413...965,561
Ensembl chr26:955,462...966,155 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr27:16,139,462...16,162,701
Ensembl chr27:16,139,499...16,161,147 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUS1 pseudouridine synthase 1 ISO OMIM NCBI chr26:955,413...965,561
Ensembl chr26:955,462...966,155 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:28492532 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO OMIM NCBI chr27:16,139,462...16,162,701
Ensembl chr27:16,139,499...16,161,147 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
NARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:missense mutation:cds:m.8993T>G, p.L156R (human)
ClinVar Annotator: match by term: NARP syndrome
ClinVar Annotator: match by term: Neuropathy ataxia retinitis pigmentosa syndrome
CTD Direct Evidence: marker/mechanism		 RGD
ClinVar
CTD		 PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9199572 PMID:9329425 PMID:9556461 PMID:9568930 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:14998933 PMID:16049925 PMID:17452590 PMID:18055910 PMID:19124644 PMID:19667215 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27129022 PMID:32313153 RGD:13825442 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		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 PMID:16177225 PMID:17426723 PMID:17980715 PMID:18500570 PMID:18828154 PMID:19307547 PMID:19478085 PMID:20301791 PMID:20513108 PMID:20818383 PMID:21228000 PMID:21670405 PMID:21880868 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22616202 PMID:23448099 PMID:24272679 PMID:25585994 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12872260 PMID:28812649 NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12733
    Nutritional and Metabolic Diseases 3683
      disease of metabolism 3683
        mitochondrial metabolism disease 345
          Mitochondrial Cytopathy 89
            mitochondrial myopathy 89
              Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 3
              MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT 1
              Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 2
              Mitochondrial Myopathy with Diabetes 0
              Mitochondrial Myopathy with Lactic Acidosis 1
              Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 0
              Mitochondrial Myopathy, Infantile, Transient 7
              Mitochondrial Myopathy, Lethal Infantile 1
              Mitochondrial Myopathy, and Ataxia 1
              Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
              NARP syndrome 1
              chronic progressive external ophthalmoplegia + 28
              combined oxidative phosphorylation deficiency 3 2
              mitochondrial DNA depletion syndrome 11 1
              mitochondrial DNA depletion syndrome 12a 3
              mitochondrial DNA depletion syndrome 12b 1
              mitochondrial DNA depletion syndrome 14 1
              mitochondrial DNA depletion syndrome 15 1
              mitochondrial encephalomyopathy + 48
              myopathy, lactic acidosis, and sideroblastic anemia + 4
Path 2
Term Annotations click to browse term
  disease 12733
    disease of anatomical entity 12275
      nervous system disease 10047
        peripheral nervous system disease 2394
          neuropathy 2236
            neuromuscular disease 1738
              muscular disease 1176
                muscle tissue disease 799
                  myopathy 655
                    mitochondrial myopathy 89
                      Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 3
                      MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT 1
                      Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 2
                      Mitochondrial Myopathy with Diabetes 0
                      Mitochondrial Myopathy with Lactic Acidosis 1
                      Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 0
                      Mitochondrial Myopathy, Infantile, Transient 7
                      Mitochondrial Myopathy, Lethal Infantile 1
                      Mitochondrial Myopathy, and Ataxia 1
                      Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
                      NARP syndrome 1
                      chronic progressive external ophthalmoplegia + 28
                      combined oxidative phosphorylation deficiency 3 2
                      mitochondrial DNA depletion syndrome 11 1
                      mitochondrial DNA depletion syndrome 12a 3
                      mitochondrial DNA depletion syndrome 12b 1
                      mitochondrial DNA depletion syndrome 14 1
                      mitochondrial DNA depletion syndrome 15 1
                      mitochondrial encephalomyopathy + 48
                      myopathy, lactic acidosis, and sideroblastic anemia + 4
paths to the root