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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 Adck2 aarF domain containing kinase 2 IEA OMIM:251900 MouseDO NCBI chr 6:39,573,844...39,588,769
Ensembl chr 6:39,573,873...39,588,769
JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr17:85,090,561...85,458,589
Ensembl chr17:85,090,552...85,458,588
JBrowse link
G Cox10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 10 IEA OMIM:251900 MouseDO NCBI chr11:63,962,627...64,079,472
Ensembl chr11:63,962,627...64,079,468
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:28492532 PMID:30311386 NCBI chr 9:50,745,951...50,756,636
Ensembl chr 9:50,751,325...50,756,636
JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO DNA:mutations:cds: RGD PMID:23352259 RGD:10401079 NCBI chr10:62,946,983...62,974,188
Ensembl chr10:62,947,026...62,974,185
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO mRNA:increased expression:muscle: RGD PMID:23107834 RGD:8694159 NCBI chr 1:14,168,953...14,311,035
Ensembl chr 1:14,168,954...14,310,235
JBrowse link
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: Mitochondrial myopathy OMIM
ClinVar
PMID:24281368 PMID:25741868 PMID:30010796 NCBI chr 9:21,067,512...21,073,531
Ensembl chr 9:21,067,520...21,073,614
JBrowse link
G Flnc filamin C, gamma ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:30311386 NCBI chr 6:29,433,153...29,461,889
Ensembl chr 6:29,433,256...29,461,883
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Lars2 leucyl-tRNA synthetase, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28430790 PMID:28492532 NCBI chr 9:123,366,927...123,462,675
Ensembl chr 9:123,366,927...123,462,666
JBrowse link
G mt-Cytb cytochrome b, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:28027978 NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288
JBrowse link
G mt-Ta tRNA alanine, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy
ClinVar Annotator: match by term: Myotonic dystrophy-like myopathy
ClinVar PMID:14569122 PMID:16476954 PMID:19718780 PMID:25873012 PMID:31965079 NCBI chr MT:5,018...5,086
Ensembl chr MT:5,018...5,086
JBrowse link
G mt-Td tRNA aspartic acid, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy, isolated ClinVar PMID:16059939 NCBI chr MT:6,942...7,011
Ensembl chr MT:6,942...7,011
JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:4114165 PMID:7726154 PMID:7726155 PMID:9353617 PMID:10392369 PMID:11437868 PMID:12393175 PMID:15048886 PMID:25741868 PMID:31965079 PMID:32313153 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139
JBrowse link
G mt-Tf tRNA phenylalanine, mitochondrial ISO ClinVar Annotator: match by term: Myopathy, mitochondrial, late-onset ClinVar PMID:16769874 NCBI chr MT:1...68
Ensembl chr MT:1...68
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Skeletal myopathy, responsive to riboflavin ClinVar PMID:1514779 PMID:9003864 PMID:12160969 PMID:31965079 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Tl2 tRNA leucine 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:9012410 NCBI chr MT:11,671...11,741
Ensembl chr MT:11,671...11,741
JBrowse link
G mt-Tm tRNA methionine, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy ClinVar PMID:9633749 PMID:18835817 NCBI chr MT:3,845...3,913
Ensembl chr MT:3,845...3,913
JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy
CTD
ClinVar
PMID:9673981 PMID:31965079 NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016
JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17486094 PMID:19138848 NCBI chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
JBrowse link
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:16155110 PMID:25741868 PMID:30311386, PMID:16155110 RGD:1580619 NCBI chr 8:46,207,168...46,211,062
Ensembl chr 8:46,206,797...46,211,284
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 chr 8:70,184,340...70,212,281
Ensembl chr 8:70,184,340...70,212,305
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8726225 NCBI chr11:52,360,851...52,389,397
Ensembl chr11:52,360,860...52,389,397
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 chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
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 chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
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 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
PMID:632821 PMID:1582434 PMID:2067633 PMID:2725645 PMID:8884268 PMID:9500334 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16715201 PMID:16857757 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25326637 PMID:25356970 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25771874 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28284481 PMID:28337550 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29644085 PMID:29712893 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30423451 PMID:30831263 PMID:30843307, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 7:79,374,865...79,392,250
Ensembl chr 7:79,374,870...79,387,048
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 Fanconi anemia, 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 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by OMIM:157640
OMIM
ClinVar
PMID:632821 PMID:2067633 PMID:2725645 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12565911 PMID:12872260 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 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:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17420318 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:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20981092 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:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22237560 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:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23783014 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:25488682 PMID:25585994 PMID:25741868 PMID:25850945 PMID:26095671 PMID:26104464 PMID:26357557 PMID:26467025 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28284481 PMID:28337550 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28901595 PMID:29029963 PMID:29190809 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29992832 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30843307 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
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 chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
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 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by OMIM:609283
OMIM
ClinVar
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 PMID:25741868 PMID:28492532 NCBI chr 8:46,207,168...46,211,062
Ensembl chr 8:46,206,797...46,211,284
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 OMIM:609286
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar
OMIM
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:15668446 PMID:17614277 PMID:19353676 PMID:19513767 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:28812649 PMID:29458409 NCBI chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
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 chr11:106,750,646...106,768,794
Ensembl chr11:106,751,226...106,768,794
JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by OMIM:610131
OMIM
ClinVar
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28492532 NCBI chr11:106,768,204...106,779,537
Ensembl chr11:106,768,253...106,779,537
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 M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by OMIM:613077
OMIM
ClinVar
PMID:19664747 PMID:21646632 PMID:26467025 PMID:28492532 PMID:28812649 NCBI chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
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: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6
ClinVar Annotator: match by OMIM:615156
OMIM
ClinVar
PMID:23352259 PMID:25741868 NCBI chr10:62,946,983...62,974,188
Ensembl chr10:62,947,026...62,974,185
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 Fanconi anemia, 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 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Myl3 myosin, light polypeptide 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 chr 9:110,763,678...110,769,802
Ensembl chr 9:110,741,861...110,769,798
JBrowse link
G Polg polymerase (DNA directed), gamma 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
OMIM
ClinVar
PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 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:16639411 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 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:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20883824 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:22000311 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:24288107 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25326637 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25914719 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 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
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 ClinVar
OMIM
PMID:26094573 NCBI chr12:28,649,601...28,659,592
Ensembl chr12:28,649,602...28,659,589
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, mitochondrial ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 ClinVar
OMIM
PMID:15907288 PMID:21937588 PMID:25326635 PMID:25741868 NCBI chr 8:104,226,691...104,248,592
Ensembl chr 8:104,226,685...104,248,558
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 OMIM:617070
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
ClinVar
OMIM
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 PMID:23043144 PMID:25741868 PMID:26874653 NCBI chr 6:83,480,214...83,506,969
Ensembl chr 6:83,480,217...83,506,969
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 topoisomerase (DNA) III alpha ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 ClinVar
OMIM
PMID:25741868 PMID:29290614 NCBI chr11:60,738,209...60,777,365
Ensembl chr11:60,740,058...60,777,365
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 Fanconi anemia, 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 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Myl3 myosin, light polypeptide 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 chr 9:110,763,678...110,769,802
Ensembl chr 9:110,741,861...110,769,798
JBrowse link
G Polg polymerase (DNA directed), gamma 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 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
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 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
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 chr11:106,750,646...106,768,794
Ensembl chr11:106,751,226...106,768,794
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, proximal myopathy, and sudden death ClinVar PMID:8265770 PMID:8786060 PMID:31965079 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia ClinVar PMID:29398297 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Chronic progressive external ophthalmoplegia ClinVar PMID:10844060 PMID:29887215 NCBI chr10:107,482,908...107,486,927
Ensembl chr10:107,482,908...107,486,134
JBrowse link
G Polg polymerase (DNA directed), gamma ISO DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD PMID:17923349, PMID:11431686, PMID:17420318, PMID:16401742, PMID:12565911, PMID:12975295 RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Polg2 polymerase (DNA directed), 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 chr11:106,768,204...106,779,537
Ensembl chr11:106,768,253...106,779,537
JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) 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 chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
JBrowse link
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:12565915, PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr 8:46,207,168...46,211,062
Ensembl chr 8:46,206,797...46,211,284
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Twnk twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28812649, PMID:11431692 RGD:1600544 NCBI chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
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 chr10:127,000,065...127,020,994
Ensembl chr10:127,000,709...127,020,994
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25741868 PMID:28492532 NCBI chr10:127,022,332...127,030,814
Ensembl chr10:127,011,572...127,030,840
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, mitochondrion-associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 NCBI chr  X:48,474,944...48,513,563
Ensembl chr  X:48,474,944...48,513,563
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:48,513,663...48,530,240
Ensembl chr  X:48,519,285...48,530,232
JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2810006K23Rik RIKEN cDNA 2810006K23 gene ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar
PMID:20598281 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25326635 PMID:25741868 PMID:26539891 PMID:27858754 PMID:28492532 PMID:32581362 NCBI chr 5:124,328,089...124,341,852
Ensembl chr 5:124,328,089...124,341,844
JBrowse link
G Mphosph9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr 5:124,250,959...124,329,397
Ensembl chr 5:124,250,959...124,327,972
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 chr 9:21,067,512...21,073,531
Ensembl chr 9:21,067,520...21,073,614
JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:4114165 PMID:7726154 PMID:7726155 PMID:9353617 PMID:10392369 PMID:11437868 PMID:12393175 PMID:15048886 PMID:25741868 PMID:31965079 PMID:32313153 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139
JBrowse link
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), 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 chr 8:46,207,168...46,211,062
Ensembl chr 8:46,206,797...46,211,284
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 chr 8:70,184,340...70,212,281
Ensembl chr 8:70,184,340...70,212,305
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 deleted in colorectal carcinoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:71,253,613...72,351,228
Ensembl chr18:71,253,634...72,351,069
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:37,416,045...37,433,436
Ensembl chr 9:37,415,669...37,433,246
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:18829051 PMID:19633821 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 9:37,416,045...37,433,436
Ensembl chr 9:37,415,669...37,433,246
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 deleted in colorectal carcinoma ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 ClinVar
OMIM
PMID:28250456 NCBI chr18:71,253,613...72,351,228
Ensembl chr18:71,253,634...72,351,069
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 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 chr15:89,355,719...89,372,850
Ensembl chr15:89,355,719...89,372,826
JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein 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 chr15:89,371,630...89,373,891
Ensembl chr15:89,371,637...89,373,846
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:89,371,631...89,377,036
Ensembl chr15:89,371,931...89,377,039
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 chr 1:37,417,085...37,430,103
Ensembl chr 1:37,417,084...37,430,103
JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:126,422,501...126,425,435
Ensembl chr 8:126,422,515...126,425,433
JBrowse link
G Cox15 cytochrome c oxidase assembly protein 15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:43,733,254...43,753,000
Ensembl chr19:43,733,254...43,753,000
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 chr15:89,355,719...89,372,850
Ensembl chr15:89,355,719...89,372,826
JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20864674 PMID:22515166 PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr15:89,371,630...89,373,891
Ensembl chr15:89,371,637...89,373,846
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr15:89,371,631...89,377,036
Ensembl chr15:89,371,931...89,377,039
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 protein 15 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
ClinVar Annotator: match by OMIM:615119
OMIM
ClinVar
PMID:2175025 PMID:12474143 PMID:15235026 PMID:15863660 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 NCBI chr19:43,733,254...43,753,000
Ensembl chr19:43,733,254...43,753,000
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 ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ClinVar
OMIM
PMID:21457908 NCBI chr 1:37,417,085...37,430,103
Ensembl chr 1:37,417,084...37,430,103
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 ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 ClinVar
OMIM
PMID:22277967 PMID:24549041 PMID:25339201 PMID:25959673 PMID:26160915 NCBI chr 8:126,422,501...126,425,435
Ensembl chr 8:126,422,515...126,425,433
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 ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar Annotator: match by OMIM:614462
OMIM
ClinVar
PMID:2152680 PMID:22152680 PMID:24334290 PMID:26467025 PMID:27923773 PMID:28492532 NCBI chr 5:65,391,497...65,410,423
Ensembl chr 5:65,391,497...65,410,693
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 5:65,388,364...65,391,431
Ensembl chr 5:65,388,364...65,391,444
JBrowse link
G Ugdh UDP-glucose dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 5:65,413,207...65,435,842
Ensembl chr 5:65,413,221...65,435,949
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 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969
JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390
JBrowse link
G mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806
JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544
JBrowse link
G mt-Nd4l NADH dehydrogenase 4L, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,877...10,173
Ensembl chr MT:9,877...10,173
JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565
JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458
JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:11448301 PMID:20550934 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Tl2 tRNA leucine 2, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,671...11,741
Ensembl chr MT:11,671...11,741
JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875
JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671
JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:11594340 PMID:11756614 NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha IMP RGD PMID:23406886 RGD:7241824 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Tfam transcription factor A, mitochondrial IEA OMIM:530000 MouseDO NCBI chr10:71,225,468...71,238,328
Ensembl chr10:71,225,464...71,238,280
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 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial 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:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696
JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO DNA:mutation:exon:m.9957T>C (F251L)(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18587274 RGD:5491184 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390
JBrowse link
G mt-Cytb cytochrome b, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial 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
ClinVar
CTD
PMID:15466014 PMID:15972314 PMID:16849371 PMID:16969869 PMID:17535832 PMID:17562939 PMID:18504678 PMID:18590963 PMID:18977334 PMID:21364701 PMID:24830958, PMID:15466014 RGD:5490235 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1323207 PMID:3395302 PMID:8213827 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544
JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO DNA:mutations:exons:p. D393N, M237T (human)
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:m.13513G>A (D393N)(human)
DNA:mutation:exon:m.13849A>C (N505H)(human)
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:18977334 PMID:22249460 PMID:22577219 PMID:25741868 PMID:26894521, PMID:21850008, PMID:10589546, PMID:18587274 RGD:5491173, RGD:5507825, RGD:5491184 NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565
JBrowse link
G mt-Nd6 NADH dehydrogenase 6, mitochondrial 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:13,552...14,070
Ensembl chr MT:13,552...14,070
JBrowse link
G mt-Ta tRNA alanine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:11404121 PMID:16476954 PMID:19718780 PMID:31965079 NCBI chr MT:5,018...5,086
Ensembl chr MT:5,018...5,086
JBrowse link
G mt-Tc tRNA cysteine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:8829635 PMID:9185178 PMID:9384601 PMID:12802679 PMID:16955414 PMID:18386806 PMID:19818876 PMID:31965079 NCBI chr MT:5,192...5,257
Ensembl chr MT:5,192...5,257
JBrowse link
G mt-Td tRNA aspartic acid, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:10488907 PMID:18676632 PMID:31965079 NCBI chr MT:6,942...7,011
Ensembl chr MT:6,942...7,011
JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial 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:4114165 PMID:7726154 PMID:7726155 PMID:9353617 PMID:10392369 PMID:11349229 PMID:11437868 PMID:12393175 PMID:15048886 PMID:17056256 PMID:19720722 PMID:21194154 PMID:21931168 PMID:23847141 PMID:25741868 PMID:28027978 PMID:31965079 PMID:32313153 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139
JBrowse link
G mt-Tf tRNA phenylalanine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:1171391 PMID:2102678 PMID:6093682 PMID:9636664 PMID:9771776 PMID:12943225 PMID:14597761 PMID:16806928 PMID:18842121 PMID:19718780 PMID:20142618 PMID:21060018 PMID:21882289 PMID:31965079 NCBI chr MT:1...68
Ensembl chr MT:1...68
JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1709275 PMID:8079988 PMID:8888049 PMID:11335700 PMID:12621050 PMID:15070938 PMID:31965079 NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458
JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:7635294 PMID:11038324 PMID:12560876 PMID:14967777 PMID:15111688 PMID:21931169 PMID:25741868 PMID:31965079 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612
JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1978914 PMID:8889580 PMID:9461455 PMID:9466989 PMID:9473477 PMID:11406419 PMID:11782991 PMID:12621050 PMID:12655007 PMID:15121771 PMID:15233983 PMID:15477393 PMID:16120360 PMID:18177739 PMID:21144833 PMID:21533077 PMID:21982779 PMID:22241583 PMID:25741868 PMID:26467025 PMID:31965079 NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774
JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:1324294 PMID:1334369 PMID:1361099 PMID:1463005 PMID:1487239 PMID:1661776 PMID:1678125 PMID:1899320 PMID:1900002 PMID:1910259 PMID:1910341 PMID:2112427 PMID:2124116 PMID:7647790 PMID:8069654 PMID:8069655 PMID:8170567 PMID:8198140 PMID:8264702 PMID:8447321 PMID:8513395 PMID:8602753 PMID:8651277 PMID:9529371 PMID:9571188 PMID:9674814 PMID:10699170 PMID:11108511 PMID:11335700 PMID:12784281 PMID:15100439 PMID:15164143 PMID:16551460 PMID:17200493 PMID:17275787 PMID:17293137 PMID:18657354 PMID:19269823 PMID:20581069 PMID:20610441 PMID:22326363 PMID:25741868 PMID:26467025 PMID:27155576 PMID:31965079 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 PMID:1514779 PMID:1677065 PMID:1684568 PMID:1715668 PMID:1932147 PMID:2102678 PMID:2268345 PMID:7473662 PMID:7520241 PMID:7554321 PMID:7635294 PMID:7649539 PMID:7714102 PMID:7804130 PMID:7906985 PMID:7931425 PMID:8094200 PMID:8111377 PMID:8132749 PMID:8151636 PMID:8210299 PMID:8254046 PMID:8265770 PMID:8280119 PMID:8366098 PMID:8442706 PMID:8541865 PMID:8603770 PMID:8723071 PMID:8723072 PMID:8786060 PMID:8818955 PMID:8825603 PMID:9003864 PMID:9109727 PMID:9168904 PMID:9222976 PMID:9243242 PMID:9382149 PMID:9465864 PMID:9506761 PMID:9619647 PMID:9683591 PMID:9798744 PMID:9841711 PMID:9874606 PMID:10356136 PMID:10366077 PMID:10407850 PMID:10431114 PMID:10482110 PMID:10514449 PMID:10519336 PMID:10612844 PMID:10699170 PMID:10704697 PMID:10858457 PMID:11085913 PMID:11096278 PMID:11175302 PMID:11241464 PMID:11320187 PMID:11379873 PMID:11587074 PMID:11708999 PMID:11723298 PMID:11840193 PMID:12160969 PMID:12612863 PMID:12868503 PMID:12905015 PMID:14576046 PMID:15032978 PMID:15372523 PMID:15477393 PMID:15629304 PMID:15870203 PMID:16006433 PMID:16326995 PMID:16336784 PMID:16384802 PMID:16950816 PMID:17018649 PMID:17172609 PMID:17564976 PMID:17656376 PMID:17823937 PMID:18203188 PMID:18252214 PMID:18306232 PMID:18674747 PMID:18676632 PMID:18753147 PMID:19027590 PMID:19139304 PMID:19349610 PMID:19460299 PMID:20471262 PMID:20550934 PMID:20610441 PMID:20697048 PMID:22781753 PMID:23243073 PMID:23900320 PMID:25741868 PMID:26822237 PMID:27296531 PMID:28027978 PMID:29155328 PMID:31965079 PMID:32313153 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Tl2 tRNA leucine 2, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:7804130 PMID:8923013 PMID:9361028 PMID:10602359 PMID:11313776 PMID:12398839 PMID:15591266 PMID:15649400 PMID:18977334 PMID:19718780 PMID:21882289 PMID:31965079 NCBI chr MT:11,671...11,741
Ensembl chr MT:11,671...11,741
JBrowse link
G mt-Tm tRNA methionine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:31965079 NCBI chr MT:3,845...3,913
Ensembl chr MT:3,845...3,913
JBrowse link
G mt-Tn tRNA asparagine, mitochondrial 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:15752774 PMID:16908752 PMID:31965079 NCBI chr MT:5,089...5,159
Ensembl chr MT:5,089...5,159
JBrowse link
G mt-Tp tRNA proline, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:10369889 PMID:11196116 PMID:12400067 PMID:12406974 PMID:15120634 PMID:19273760 PMID:19718780 PMID:22954281 PMID:31965079 NCBI chr MT:15,356...15,422
Ensembl chr MT:15,356...15,422
JBrowse link
G mt-Tq tRNA glutamine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:11171912 PMID:11424923 PMID:12406974 PMID:15233983 PMID:16947981 PMID:17003408 PMID:23463613 PMID:25741868 PMID:26467025 PMID:31965079 NCBI chr MT:3,772...3,842
Ensembl chr MT:3,772...3,842
JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:17588757 PMID:31965079 NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:127819 PMID:6213205 PMID:7581383 PMID:7669057 PMID:7987332 PMID:8019558 PMID:8155739 PMID:8572257 PMID:8728705 PMID:9384601 PMID:9450881 PMID:9708714 PMID:9742104 PMID:9778262 PMID:9778273 PMID:9832034 PMID:10094190 PMID:10340654 PMID:10371545 PMID:10545608 PMID:11069477 PMID:11175301 PMID:11378827 PMID:11919191 PMID:12461693 PMID:14605505 PMID:15286157 PMID:15292920 PMID:15482956 PMID:15833431 PMID:16199753 PMID:16368237 PMID:17637808 PMID:17894844 PMID:18398437 PMID:18790089 PMID:18977334 PMID:19371214 PMID:19718780 PMID:20064630 PMID:20301595 PMID:20812880 PMID:21041797 PMID:21621438 PMID:22130972 PMID:23463613 PMID:24033266 PMID:26467025 PMID:28027978 PMID:31965079 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:7689389 PMID:16947981 PMID:17637808 PMID:19370763 PMID:23144833 PMID:23563965 PMID:24146900 PMID:25741868 PMID:26467025 PMID:27230773 PMID:28842646 PMID:30311386 PMID:31965079 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671
JBrowse link
G mt-Tt tRNA threonine, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
ClinVar PMID:8769114 PMID:10369889 PMID:18178636 PMID:31965079 NCBI chr MT:15,289...15,355
Ensembl chr MT:15,289...15,355
JBrowse link
G mt-Tv tRNA valine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:9450773 PMID:11799391 PMID:12056939 PMID:15320572 PMID:15465092 PMID:17886296 PMID:18400783 PMID:20064630 PMID:24691472 PMID:25652200 PMID:31965079 NCBI chr MT:1,025...1,093
Ensembl chr MT:1,025...1,093
JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:9266739 PMID:9673981 PMID:10762520 PMID:15670724 PMID:18977334 PMID:19349200 PMID:21712854 PMID:22638997 PMID:25741868 PMID:31965079 NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016
JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:14598342 PMID:30311386 PMID:31965079 NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326
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 chr 1:63,143,592...63,176,822
Ensembl chr 1:63,143,596...63,176,833
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
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 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial 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:11,742...13,565
Ensembl chr MT:11,742...13,565
JBrowse link
G mt-Tf tRNA phenylalanine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers
CTD
ClinVar
PMID:15184630 PMID:17878308 NCBI chr MT:1...68
Ensembl chr MT:1...68
JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MERRF syndrome
ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers
CTD
ClinVar
PMID:11782991 PMID:31965079 NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774
JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MERRF syndrome
ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers
CTD
ClinVar
PMID:1324294 PMID:1334369 PMID:1361099 PMID:1463005 PMID:1487239 PMID:1661776 PMID:1678125 PMID:1899320 PMID:1900002 PMID:1910259 PMID:1910341 PMID:2112427 PMID:2124116 PMID:7647790 PMID:8069654 PMID:8069655 PMID:8170567 PMID:8198140 PMID:8264702 PMID:8447321 PMID:8513395 PMID:8602753 PMID:8651277 PMID:9529371 PMID:9674814 PMID:10699170 PMID:11108511 PMID:12784281 PMID:14681892 PMID:15164143 PMID:16551460 PMID:17200493 PMID:17275787 PMID:17293137 PMID:18657354 PMID:19269823 PMID:20581069 PMID:20610441 PMID:25741868 PMID:27155576 PMID:31965079 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoencephalopathy ragged-red fiber disease
ClinVar Annotator: match by term: MERRF syndrome
CTD
ClinVar
PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 PMID:1684568 PMID:1715668 PMID:1932147 PMID:2102678 PMID:2268345 PMID:7473662 PMID:7554321 PMID:7649539 PMID:7714102 PMID:7804130 PMID:7931425 PMID:8094200 PMID:8151636 PMID:8254046 PMID:8280119 PMID:8442706 PMID:8541865 PMID:8603770 PMID:8723071 PMID:8723072 PMID:8818955 PMID:8825603 PMID:9109727 PMID:9222976 PMID:9243242 PMID:9382149 PMID:9465864 PMID:9506761 PMID:9619647 PMID:9683591 PMID:9798744 PMID:9874606 PMID:10356136 PMID:10366077 PMID:10407850 PMID:10482110 PMID:10514449 PMID:10699170 PMID:10858457 PMID:11085913 PMID:11096278 PMID:11175302 PMID:11241464 PMID:11320187 PMID:11379873 PMID:11587074 PMID:11708999 PMID:11840193 PMID:12612863 PMID:12905015 PMID:15032978 PMID:15372523 PMID:15629304 PMID:16006433 PMID:16326995 PMID:16336784 PMID:16950816 PMID:17018649 PMID:17172609 PMID:17564976 PMID:17656376 PMID:17823937 PMID:18252214 PMID:18306232 PMID:18674747 PMID:18753147 PMID:19139304 PMID:19349610 PMID:20550934 PMID:20610441 PMID:20697048 PMID:23243073 PMID:23900320 PMID:25741868 PMID:26822237 PMID:27296531 PMID:31965079 PMID:32313153 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Tp tRNA proline, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MERRF syndrome
ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers
CTD
ClinVar
PMID:1379415 PMID:1645537 PMID:8511015 PMID:19273760 PMID:19718780 PMID:22638997 PMID:25741868 PMID:29760464 PMID:30236074 PMID:31965079 NCBI chr MT:15,356...15,422
Ensembl chr MT:15,356...15,422
JBrowse link
G mt-Tt tRNA threonine, mitochondrial ISO ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers ClinVar PMID:1379415 PMID:1645537 PMID:8511015 PMID:22638997 PMID:25741868 PMID:29760464 PMID:30236074 NCBI chr MT:15,289...15,355
Ensembl chr MT:15,289...15,355
JBrowse link
MERRF/MELAS Overlap Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:14967777 PMID:15111688 PMID:31965079 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612
JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:1361099 PMID:8069654 PMID:20610441 PMID:31965079 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 PMID:1684568 PMID:1715668 PMID:2102678 PMID:2268345 PMID:7473662 PMID:7554321 PMID:7649539 PMID:7714102 PMID:7931425 PMID:8094200 PMID:8151636 PMID:8442706 PMID:8541865 PMID:8603770 PMID:8723071 PMID:8723072 PMID:8818955 PMID:8825603 PMID:9109727 PMID:9222976 PMID:9243242 PMID:9382149 PMID:9465864 PMID:9619647 PMID:9683591 PMID:9798744 PMID:9874606 PMID:10356136 PMID:10366077 PMID:10407850 PMID:10482110 PMID:10514449 PMID:10699170 PMID:10858457 PMID:11085913 PMID:11096278 PMID:11175302 PMID:11241464 PMID:11320187 PMID:11379873 PMID:11587074 PMID:11708999 PMID:11840193 PMID:12612863 PMID:12905015 PMID:15032978 PMID:15372523 PMID:15629304 PMID:16326995 PMID:16336784 PMID:16950816 PMID:17018649 PMID:17172609 PMID:17564976 PMID:17656376 PMID:17823937 PMID:18252214 PMID:18306232 PMID:18674747 PMID:18753147 PMID:19139304 PMID:19349610 PMID:20550934 PMID:20610441 PMID:20697048 PMID:23243073 PMID:23900320 PMID:25741868 PMID:26822237 PMID:27296531 PMID:31965079 PMID:32313153 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:7669057 PMID:9832034 PMID:31965079 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:16950817 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671
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 chr 1:17,145,373...17,164,271
Ensembl chr 1:17,145,362...17,164,271
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 chr 1:16,942,104...17,097,922
Ensembl chr 1:16,964,560...17,097,889
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 chr 1:16,688,456...16,709,605
Ensembl chr 1:16,688,051...16,709,611
JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
ClinVar Annotator: match by term: ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY
ClinVar Annotator: match by OMIM:614052
OMIM
ClinVar
PMID:18953340 PMID:20335238 PMID:20920610 PMID:20937241 PMID:21147908 PMID:21815885 PMID:22433607 PMID:24033266 PMID:24485043 PMID:24740313 PMID:25326274 PMID:25741868 PMID:25825456 PMID:26550569 PMID:28492532 PMID:30311386 PMID:30724636 PMID:30950220 NCBI chr 1:16,665,191...16,678,275
Ensembl chr 1:16,665,207...16,678,275
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
ClinVar Annotator: match by OMIM:615084
OMIM
ClinVar
PMID:23313956 PMID:25741868 PMID:28492532 PMID:28711739 NCBI chr 2:144,270,904...144,281,227
Ensembl chr 2:144,270,663...144,281,227
JBrowse link
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride channel, voltage-sensitive Kb 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 4:141,404,357...141,416,055
Ensembl chr 4:141,404,353...141,416,014
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 chr14:103,814,615...103,844,508
Ensembl chr14:103,814,625...103,844,402
JBrowse link
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant ClinVar
OMIM
PMID:25741868 PMID:27693233 NCBI chr 8:46,207,168...46,211,062
Ensembl chr 8:46,206,797...46,211,284
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 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive OMIM
ClinVar
PMID:7609449 PMID:8479824 PMID:16155110 PMID:22187496 PMID:25732997 PMID:25741868 PMID:30311386 NCBI chr 8:46,207,168...46,211,062
Ensembl chr 8:46,206,797...46,211,284
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 (encephalomyopathic type) OMIM
ClinVar
PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25868664 PMID:26633545 PMID:27099744 PMID:27182039 PMID:27182309 PMID:27290639 PMID:27743463 PMID:27858371 PMID:28492532 PMID:28940506 PMID:31474762 PMID:32576985 NCBI chr 4:22,357,526...22,434,091
Ensembl chr 4:22,357,543...22,434,091
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
OMIM
PMID:25741868 PMID:26561570 NCBI chr16:29,579,281...29,663,127
Ensembl chr16:29,579,334...29,654,884
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 ClinVar Annotator: match by OMIM:617156 ClinVar
OMIM
PMID:27448789 NCBI chr10:71,225,468...71,238,328
Ensembl chr10:71,225,464...71,238,280
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-Coenzyme A ligase, ADP-forming, beta subunit ISO
IEA
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
OMIM:612073
ClinVar Annotator: match by OMIM:612073
OMIM
ClinVar
MouseDO
PMID:17287286 PMID:17301081 PMID:20843780 PMID:23759946 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:73,552,786...73,596,144
Ensembl chr14:73,525,319...73,596,142
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 polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS
ClinVar Annotator: match by term: Spinocerebellar ataxia infantile with sensory neuropathy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
ClinVar Annotator: match by OMIM:271245
OMIM
ClinVar
PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 PMID:20479361 PMID:20659899 PMID:21689831 PMID:22353293 PMID:22928142 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:29458409 NCBI chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
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 Fanconi anemia, 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 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO ClinVar Annotator: match by term: Neurogastrointestinal syndrome, mitochondrial ClinVar PMID:15054399 NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016
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 chr15:89,355,719...89,372,850
Ensembl chr15:89,355,719...89,372,826
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION 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 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:612075
ClinVar
OMIM
PMID:17486094 PMID:19138848 PMID:19664747 PMID:19667227 PMID:21378381 PMID:21646632 PMID:21951382 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32313153 NCBI chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar PMID:2005900 PMID:10852545 PMID:12529715 PMID:19853446 PMID:23643385 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr15:89,371,630...89,373,891
Ensembl chr15:89,371,637...89,373,846
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar PMID:2005900 PMID:10852545 PMID:12529715 PMID:19853446 PMID:23643385 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr15:89,371,631...89,377,036
Ensembl chr15:89,371,931...89,377,039
JBrowse link
mitochondrial encephalomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2810006K23Rik RIKEN cDNA 2810006K23 gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20598281 NCBI chr 5:124,328,089...124,341,852
Ensembl chr 5:124,328,089...124,341,844
JBrowse link
G Coq7 demethyl-Q 7 IEP protein:decreased expression:heart (mouse) RGD PMID:23255162 RGD:10402107 NCBI chr 7:118,509,659...118,533,356
Ensembl chr 7:118,509,659...118,533,356
JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr16:16,312,228...16,359,038
Ensembl chr16:16,312,230...16,358,959
JBrowse link
G Fars2 phenylalanine-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 chr13:36,117,428...36,537,595
Ensembl chr13:36,117,412...36,726,280
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 chr 4:22,357,526...22,434,091
Ensembl chr 4:22,357,543...22,434,091
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20858599 NCBI chr 9:35,204,208...35,211,171
Ensembl chr 9:35,204,206...35,211,055
JBrowse link
G Mff mitochondrial fission factor ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:22499341 PMID:25558065 NCBI chr 1:82,724,890...82,752,390
Ensembl chr 1:82,724,890...82,752,394
JBrowse link
G mt-Cytb cytochrome b, mitochondrial ISO ClinVar Annotator: match by synonym: Mitochondrial encephalomyopathy ClinVar PMID:11047755 NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy
CTD
ClinVar
PMID:8111377 PMID:17018649 PMID:31965079 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Tl2 tRNA leucine 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:8923013 PMID:9361028 PMID:12398839 PMID:18977334 PMID:19718780 PMID:31965079 NCBI chr MT:11,671...11,741
Ensembl chr MT:11,671...11,741
JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:15286228 PMID:19809478 NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875
JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy
ClinVar Annotator: match by term: Encephalocardiomyopathy, mitochondrial
ClinVar PMID:18337306 PMID:19809478 NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 1:171,234,853...171,251,686
Ensembl chr 1:171,234,853...171,251,388
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr17:66,078,795...66,101,559
Ensembl chr17:66,078,638...66,101,559
JBrowse link
G Polg polymerase (DNA directed), gamma ISO DNA:mutations:cds:p.N846S, p.P587L(human) RGD PMID:12825077 RGD:8694177 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 PMID:23345593 NCBI chr15:89,371,630...89,373,891
Ensembl chr15:89,371,637...89,373,846
JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chr 1:16,665,191...16,678,275
Ensembl chr 1:16,665,207...16,678,275
JBrowse link
G Tymp thymidine phosphorylase ISO mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome,OMIM:603041;DNA:point mutation:exon:E289A RGD PMID:9924029 RGD:1601000 NCBI chr15:89,371,631...89,377,036
Ensembl chr15:89,371,931...89,377,039
JBrowse link
Mitochondrial Encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO DNA:mutations: :m. 10191T>C, 10158T>C(human) RGD PMID:14705112 RGD:5507824 NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806
JBrowse link
G mt-Tf tRNA phenylalanine, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:14597761 PMID:18842121 PMID:21060018 PMID:31965079 NCBI chr MT:1...68
Ensembl chr MT:1...68
JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Encephalopathy, familial progressive necrotizing ClinVar PMID:15121771 PMID:21533077 PMID:31965079 NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774
JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:7695240 PMID:9266739 PMID:12776230 PMID:25741868 NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016
JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:25741868 NCBI chr 7:28,305,516...28,312,046
Ensembl chr 7:28,305,516...28,312,072
JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: Exercise intolerance, muscle pain, and lactic acidemia ClinVar PMID:9778262 PMID:14605505 PMID:16199753 PMID:20064630 PMID:31965079 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G Pnpla8 patatin-like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis ClinVar
OMIM
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 NCBI chr12:44,269,132...44,315,936
Ensembl chr12:44,221,370...44,322,532
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 1, mitochondrial distribution and morphology regulator ISO ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA ClinVar
OMIM
PMID:25741868 PMID:28544275 PMID:28554942 PMID:30684668 PMID:31463572 NCBI chr 3:88,909,616...88,913,950
Ensembl chr 3:88,905,107...88,913,999
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 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:12414820 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390
JBrowse link
G mt-Cytb cytochrome b, mitochondrial 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:14,145...15,288
Ensembl chr MT:14,145...15,288
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G mt-Nd2 NADH dehydrogenase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:3,914...4,951
Ensembl chr MT:3,914...4,951
JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:20018511 NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565
JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:19720722 PMID:21194154 PMID:21931168 PMID:25741868 PMID:31965079 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139
JBrowse link
Mitochondrial Myopathy, Lethal Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Tt tRNA threonine, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:15,289...15,355
Ensembl chr MT:15,289...15,355
JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO DNA:mutations:multiple RGD PMID:23625533 RGD:21066346 NCBI chr15:85,879,309...85,897,394
Ensembl chr15:85,879,312...85,897,394
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: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM
ClinVar
PMID:8627443 PMID:18414213 PMID:19409522 PMID:20593814 PMID:25269795 PMID:25326635 PMID:25741868 PMID:26018198 PMID:26757139 PMID:28155230 PMID:28812649 NCBI chr17:24,693,190...24,696,156
Ensembl chr17:24,693,187...24,696,156
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle 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 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
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 ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant OMIM
ClinVar
PMID:24934289 PMID:25741868 NCBI chr10:75,933,130...75,937,750
Ensembl chr10:75,933,130...75,937,747
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 chr16:16,312,228...16,359,038
Ensembl chr16:16,312,230...16,358,959
JBrowse link
G Pus1 pseudouridine synthase 1 IEA
ISO
OMIM:500011 | OMIM:600462 | OMIM:613561
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:28492532 NCBI chr 5:110,773,667...110,780,649
Ensembl chr 5:110,773,667...110,780,659
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr16:16,302,965...16,309,640
Ensembl chr16:16,302,965...16,309,640
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 OMIM
ClinVar
PMID:7726239 PMID:14981724 PMID:15108122 PMID:17056637 PMID:23707380 PMID:25227147 PMID:25741868 PMID:28492532 NCBI chr 5:110,773,667...110,780,649
Ensembl chr 5:110,773,667...110,780,659
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 chr16:16,312,228...16,359,038
Ensembl chr16:16,312,230...16,358,959
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) 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 PMID:24344687 PMID:24430573 PMID:25741868 PMID:26633545 PMID:28492532 PMID:30026338 NCBI chr16:16,302,965...16,309,640
Ensembl chr16:16,302,965...16,309,640
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 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
NARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Atp6 ATP synthase 6, mitochondrial 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
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, PMID:11843698 RGD:13825442 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
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 polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
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 chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
JBrowse link
Progressive External Ophthalmoplegia with Myoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with myoclonus ClinVar PMID:10220860 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13461
    Nutritional and Metabolic Diseases 3935
      disease of metabolism 3935
        mitochondrial metabolism disease 375
          Mitochondrial Cytopathy 114
            mitochondrial myopathy 114
              Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 4
              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 2
              Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 0
              Mitochondrial Myopathy, Infantile, Transient 8
              Mitochondrial Myopathy, Lethal Infantile 2
              Mitochondrial Myopathy, and Ataxia 1
              Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
              NARP syndrome 1
              chronic progressive external ophthalmoplegia + 38
              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 + 71
              myopathy, lactic acidosis, and sideroblastic anemia + 4
Path 2
Term Annotations click to browse term
  disease 13461
    disease of anatomical entity 12946
      nervous system disease 10511
        peripheral nervous system disease 2502
          neuropathy 2335
            neuromuscular disease 1824
              muscular disease 1237
                muscle tissue disease 848
                  myopathy 702
                    mitochondrial myopathy 114
                      Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 4
                      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 2
                      Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 0
                      Mitochondrial Myopathy, Infantile, Transient 8
                      Mitochondrial Myopathy, Lethal Infantile 2
                      Mitochondrial Myopathy, and Ataxia 1
                      Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
                      NARP syndrome 1
                      chronic progressive external ophthalmoplegia + 38
                      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 + 71
                      myopathy, lactic acidosis, and sideroblastic anemia + 4
paths to the root