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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 Cytopathy
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Accession:DOID:9003594 term browser browse the term
Definition:Mitochondrial cytopathies are a diverse group of inherited and acquired disorders that result in inadequate energy production. They can be caused by inheritable genetic mutations, acquired somatic mutations, exposure to toxins (including some prescription medications), and the aging process itself. In addition, a number of well-described diseases can decrease mitochondrial energy production; these include hyperthyroidism, hypothyroidism, and hyperlipidemia.
Synonyms:primary_id: MESH:C540770
 alt_id: RDO:0004610


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Mitochondrial Cytopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial cytopathy ClinVar PMID:28027978 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Mitochondrial cytopathy ClinVar PMID:28027978 NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266 		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 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109 		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 More... NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility ISO ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)		 OMIM
ClinVar
RGD		 PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:15039298 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 2:77,694,271...77,708,099
Ensembl chr 2:77,694,266...77,708,096 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr 7:54,783,965...54,800,008
Ensembl chr 7:54,776,113...54,889,014 		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 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		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 OMIM
ClinVar		 PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		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 chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		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 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
ClinVar		 PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		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 OMIM
ClinVar		 PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		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 chr12:14,612,177...14,637,946
Ensembl chr12:14,612,183...14,636,811 		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 OMIM
ClinVar		 PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,570 		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 OMIM
ClinVar		 PMID:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 More... NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		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 ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy OMIM
ClinVar		 PMID:23352259 PMID:25741868 PMID:28492532 PMID:31478350 NCBI chr14:71,550,405...71,607,067
Ensembl chr14:71,552,121...71,610,740 		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 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		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 chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628 		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 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		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 ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 OMIM
ClinVar		 PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 NCBI chr 3:131,268,908...131,277,072
Ensembl chr 3:131,268,926...131,281,930 		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 OMIM
ClinVar		 PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 More... NCBI chr 6:27,226,421...27,255,645
Ensembl chr 6:27,226,425...27,255,574 		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 OMIM
ClinVar		 PMID:9536098 PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 More... NCBI chr 3:69,054,749...69,091,366
Ensembl chr 3:69,054,761...69,091,341 		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 chr12:60,443,592...60,468,968
Ensembl chr12:60,443,677...60,468,964 		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 9:6,026,151...6,065,211
Ensembl chr 9:6,025,073...6,065,143 		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 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		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 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		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 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		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 chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
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 chr12:14,612,177...14,637,946
Ensembl chr12:14,612,183...14,636,811 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)		 RGD
CTD		 PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 More... RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		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 chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,570 		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 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		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		 RGD
ClinVar		 PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More... RGD:1600544 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		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: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chr 5:23,087,946...23,110,602
Ensembl chr 5:23,087,956...23,110,602 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 | ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS | ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr 5:23,073,087...23,087,029
Ensembl chr 5:23,072,808...23,097,915 		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 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy OMIM
ClinVar		 PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy ClinVar PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404 		JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPHOSPH9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr14:29,659,027...29,726,756
Ensembl chr14:29,659,034...29,724,461 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar		 PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More... NCBI chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899 		JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 More... NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		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 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625 		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 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625 		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 chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096 		JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBB2 amyloid beta precursor protein binding family B member 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,921,587...32,302,237
Ensembl chr 8:31,921,593...32,193,940 		JBrowse link
G CHRNA9 cholinergic receptor nicotinic alpha 9 subunit ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,430,933...31,456,385
Ensembl chr 8:31,443,043...31,456,384 		JBrowse link
G FAM114A1 family with sequence similarity 114 member A1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,191,950...30,274,167
Ensembl chr 8:30,114,635...30,274,164 		JBrowse link
G KLB klotho beta ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,653,434...30,696,123
Ensembl chr 8:30,653,572...30,691,349 		JBrowse link
G KLHL5 kelch like family member 5 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,361,584...30,440,730
Ensembl chr 8:30,361,338...30,440,750 		JBrowse link
G LIAS lipoic acid synthetase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency OMIM
ClinVar		 PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr 8:30,699,278...30,717,009
Ensembl chr 8:30,699,330...30,720,335 		JBrowse link
G LIMCH1 LIM and calponin homology domains 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:32,433,035...32,792,553
Ensembl chr 8:32,433,318...32,792,546 		JBrowse link
G N4BP2 NEDD4 binding protein 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,216,942...31,287,993
Ensembl chr 8:31,219,397...31,287,990 		JBrowse link
G NSUN7 NOP2/Sun RNA methyltransferase family member 7 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,810,012...31,920,145
Ensembl chr 8:31,810,320...31,925,472 		JBrowse link
G PDS5A PDS5 cohesin associated factor A ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,988,366...31,134,331
Ensembl chr 8:30,988,370...31,134,331 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,842,145...32,846,127 		JBrowse link
G RBM47 RNA binding motif protein 47 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,508,133...31,690,757
Ensembl chr 8:31,508,148...31,690,409 		JBrowse link
G RFC1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,552,369...30,635,932
Ensembl chr 8:30,552,400...30,635,867 		JBrowse link
G RHOH ras homolog family member H ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,321,005...31,372,366
Ensembl chr 8:31,321,059...31,372,364 		JBrowse link
G RPL9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 8:30,693,198...30,699,189
Ensembl chr 8:30,694,388...30,699,189 		JBrowse link
G SMIM14 small integral membrane protein 14 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,765,417...30,840,416
Ensembl chr 8:30,765,418...30,840,434 		JBrowse link
G TLR1 toll like receptor 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466 		JBrowse link
G TLR10 toll like receptor 10 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,124,895...30,134,854
Ensembl chr 8:30,124,895...30,134,854 		JBrowse link
G TLR6 toll like receptor 6 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650 		JBrowse link
G TMEM156 transmembrane protein 156 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,289,424...30,342,633
Ensembl chr 8:30,289,407...30,342,600 		JBrowse link
G UBE2K ubiquitin conjugating enzyme E2 K ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,887,784...30,961,685
Ensembl chr 8:30,887,830...30,963,762 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:32,353,766...32,367,288
Ensembl chr 8:32,353,246...32,367,332 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 8:30,725,281...30,759,359
Ensembl chr 8:30,725,288...30,759,326 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		JBrowse link
isolated mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H22orf15 chromosome 14 C22orf15 homolog ISO ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance ClinVar PMID:28492532 NCBI chr14:49,924,196...49,926,033
Ensembl chr14:49,923,613...49,926,264 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance | ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant OMIM
ClinVar		 PMID:4104978 PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 More... NCBI chr14:49,921,600...49,923,529
Ensembl chr14:49,921,595...49,923,526 		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 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
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:9,120...9,800
Ensembl chr MT:9,120...9,800 		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:8,959...9,162
Ensembl chr MT:8,959...9,162 		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:9,800...10,583
Ensembl chr MT:9,800...10,583 		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:10,653...10,998
Ensembl chr MT:10,653...10,998 		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:11,359...12,736
Ensembl chr MT:11,359...12,736 		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:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO OMIM:530000 MouseDO NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731 		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 chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
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:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:7496173 PMID:15823923 PMID:18587274 PMID:25741868 NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22638077 PMID:32906214 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:15466014 PMID:15972314 PMID:16849371 PMID:16969869 PMID:17535832 More... NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		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:11,359...12,736
Ensembl chr MT:11,359...12,736 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:9299505 PMID:10589546 PMID:11102991 PMID:11198278 PMID:12509858 More... NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:11781695 NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266 		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 chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: MELAS syndrome ClinVar PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		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 chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: MERRF syndrome ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868 NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
mitochondrial complex IV deficiency nuclear type 13 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 ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 OMIM
ClinVar		 PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More... NCBI chr14:56,751,142...56,758,956 JBrowse link
mitochondrial complex IV deficiency nuclear type 2 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 CTD Direct Evidence: marker/mechanism CTD NCBI chr14:56,751,142...56,758,956 JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,619...110,894,992 		JBrowse link
G LOC100524554 cytochrome c oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:55,677,042...55,687,828
Ensembl chr 3:55,677,073...55,699,542 		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 Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 More... NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
mitochondrial complex IV deficiency nuclear type 6 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 ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM
ClinVar		 PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More... NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,619...110,894,992 		JBrowse link
mitochondrial complex IV deficiency nuclear type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100524554 cytochrome c oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM
ClinVar		 PMID:21457908 NCBI chr 3:55,677,042...55,687,828
Ensembl chr 3:55,677,073...55,699,542 		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: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:28492532 NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049 		JBrowse link
G JPH1 junctophilin 1 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:28492532 NCBI chr 4:61,628,304...61,716,550
Ensembl chr 4:61,628,299...61,716,544 		JBrowse link
G LY96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:21147908 PMID:28492532 NCBI chr 4:61,919,806...61,950,712
Ensembl chr 4:61,926,064...61,950,697 		JBrowse link
G TMEM70 transmembrane protein 70 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 OMIM
ClinVar		 PMID:1895334 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18953340 More... NCBI chr 4:61,958,605...61,966,041
Ensembl chr 4:61,958,605...61,966,024 		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 ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11 OMIM
ClinVar		 PMID:23313956 PMID:25741868 PMID:28097321 PMID:28492532 PMID:28711739 NCBI chr17:26,381,561...26,395,201
Ensembl chr17:26,369,875...26,395,192 		JBrowse link
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:27693233 PMID:28492532 PMID:32827528 NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		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 ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive OMIM
ClinVar		 PMID:7609449 PMID:8479824 PMID:9207786 PMID:16155110 PMID:21549803 More... NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		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 ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM
ClinVar		 PMID:16199547 PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 More... NCBI chr 1:65,872,119...65,936,442
Ensembl chr 1:65,872,123...65,935,703 		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 ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) ClinVar
OMIM		 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ClinVar PMID:16582910 PMID:16909392 PMID:17694548 PMID:19520594 PMID:23714749 More... NCBI chr 3:111,823,075...111,833,929
Ensembl chr 3:111,821,690...111,833,928 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) OMIM
ClinVar		 PMID:25741868 PMID:27448789 PMID:28492532 NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731 		JBrowse link
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917 		JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,216,305...19,220,913
Ensembl chr11:19,219,077...19,220,347 		JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926 		JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,528 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,081,841...19,182,488
Ensembl chr11:19,106,531...19,182,484 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM
ClinVar		 PMID:9536098 PMID:15877282 PMID:16199547 PMID:17287286 PMID:17301081 More... NCBI chr11:19,616,415...19,670,667
Ensembl chr11:19,616,495...19,670,662 		JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr10:66,996,919...67,021,692
Ensembl chr10:66,996,954...67,047,235 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: mitochondrial hepatopathy OMIM
ClinVar		 PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17614277 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		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:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		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 chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		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: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency		 ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease		 OMIM
ClinVar		 PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 More... NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
mitochondrial encephalomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ7 coenzyme Q7, hydroxylase ISO protein:decreased expression:heart (mouse) RGD PMID:23255162 RGD:10402107 NCBI chr 3:26,366,006...26,373,604
Ensembl chr 3:26,366,000...26,373,584 		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 More... NCBI chr 7:3,193,433...3,557,413
Ensembl chr 7:3,262,396...3,557,407 		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 More... NCBI chr 1:65,872,119...65,936,442
Ensembl chr 1:65,872,123...65,935,703 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20858599 NCBI chr 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952 		JBrowse link
G MFF mitochondrial fission factor ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:22499341 PMID:25558065 NCBI chr15:128,768,441...128,799,355
Ensembl chr15:128,768,348...128,799,344 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:11047755 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO CTD Direct Evidence: marker/mechanism CTD PMID:20598281 NCBI chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 6:98,819,156...98,852,561
Ensembl chr 6:98,815,885...98,852,524 		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 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 PMID:23345593 NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
G SLIRP SRA stem-loop interacting RNA binding protein ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar NCBI chr 7:100,710,472...100,718,290
Ensembl chr 7:100,710,234...100,720,374 		JBrowse link
G TMEM70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chr 4:61,958,605...61,966,041
Ensembl chr 4:61,958,605...61,966,024 		JBrowse link
Mitochondrial Encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:25741868 NCBI chr 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952 		JBrowse link
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:10,653...10,998
Ensembl chr MT:10,653...10,998 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:25741868 PMID:30190335 NCBI chr 6:48,126,470...48,134,664
Ensembl chr 6:48,126,991...48,139,357 		JBrowse link
mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCK2 aarF domain containing kinase 2 ISO OMIM:251900 MouseDO NCBI chr18:9,153,832...9,173,009
Ensembl chr18:9,153,839...9,173,007 		JBrowse link
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 3:95,688,400...96,092,028
Ensembl chr 3:95,688,405...96,092,078 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO OMIM:251900 MouseDO NCBI chr12:58,011,831...58,110,575
Ensembl chr12:58,011,817...58,109,185 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 ISO DNA:mutations:cds: RGD PMID:23352259 RGD:10401079 NCBI chr14:71,550,405...71,607,067
Ensembl chr14:71,552,121...71,610,740 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO mRNA:increased expression:muscle: RGD PMID:23107834 RGD:8694159 NCBI chr 4:63,970,939...64,328,107
Ensembl chr 4:63,970,807...64,328,105 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28430790 PMID:28492532 More... NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:28027978 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:25741868 PMID:28492532 NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,584...23,418,132 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17486094 PMID:19138848 NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		JBrowse link
G SLC25A42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576 NCBI chr 2:58,753,363...58,803,356
Ensembl chr 2:58,753,371...58,801,832 		JBrowse link
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:25741868 PMID:28492532 PMID:29783828 PMID:33013660 PMID:35289132 NCBI chr 6:27,226,421...27,255,645
Ensembl chr 6:27,226,425...27,255,574 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G VDAC1 voltage dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8726225 NCBI chr 2:136,302,188...136,334,461
Ensembl chr 2:136,302,191...136,396,301 		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 ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis OMIM
ClinVar		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chr 9:108,271,343...108,320,574
Ensembl chr 9:108,269,830...108,320,267 		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 ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28544275 PMID:28554942 PMID:29339779 More... NCBI chr 4:94,248,203...94,252,624
Ensembl chr 4:94,248,230...94,253,034 		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:9,120...9,800
Ensembl chr MT:9,120...9,800 		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:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT ClinVar PMID:25741868 NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		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:9,800...10,583
Ensembl chr MT:9,800...10,583 		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 More... NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient | ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT ClinVar PMID:25741868 NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		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 PMID:25741868 PMID:32906214 NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G ND2 NADH dehydrogenase subunit 2 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128 		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 chr 5:3,208,122...3,224,382
Ensembl chr 5:3,208,118...3,224,366 		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 ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM
ClinVar		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991 		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 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		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 FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028 		JBrowse link
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,584...23,418,132 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818 		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 ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition OMIM
ClinVar		 PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 More... NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,584...23,418,132 		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 FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM
ClinVar		 PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More... NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818 		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:9,120...9,800
Ensembl chr MT:9,120...9,800 		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 ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More... NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G ND2 NADH dehydrogenase subunit 2 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128 		JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365 		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 ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		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 chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Nutritional and Metabolic Diseases 7080
      disease of metabolism 7080
        mitochondrial metabolism disease 798
          Mitochondrial Cytopathy 121
            Kearns-Sayre syndrome 11
            mitochondrial myopathy + 121
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          inherited metabolic disorder 5435
            mitochondrial metabolism disease 798
              Mitochondrial Cytopathy 121
                Kearns-Sayre syndrome 11
                mitochondrial myopathy + 121
paths to the root