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G
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Adck2
|
aarF domain containing kinase 2
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ISS
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OMIM:251900
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MouseDO |
|
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NCBI chr 4:69,315,633...69,328,535
Ensembl chr 4:69,315,635...69,329,502
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G
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Camkmt
|
calmodulin-lysine N-methyltransferase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:26247364 |
|
NCBI chr 6:14,951,838...15,332,966
Ensembl chr 6:14,951,840...15,333,106
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G
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Cox10
|
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
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ISS
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OMIM:251900
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MouseDO |
|
|
NCBI chr10:49,130,209...49,242,009
Ensembl chr10:49,130,209...49,242,009
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G
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Dna2
|
DNA replication helicase/nuclease 2
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|
ISO
|
DNA:mutations:cds:
|
RGD |
PMID:23352259 |
RGD:10401079 |
NCBI chr20:25,660,339...25,689,285
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|
G
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Eya1
|
EYA transcriptional coactivator and phosphatase 1
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|
ISO
|
mRNA:increased expression:muscle:
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RGD |
PMID:23107834 |
RGD:8694159 |
NCBI chr 5:9,646,599...9,884,609
Ensembl chr 5:9,646,591...9,884,614
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G
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Fdx2
|
ferredoxin 2
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|
ISO
|
ClinVar Annotator: match by term: Mitochondrial Myopathies CTD Direct Evidence: marker/mechanism
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ClinVar CTD |
PMID:24281368 PMID:25741868 PMID:28492532 PMID:30010796 |
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NCBI chr 8:27,881,091...27,886,230
Ensembl chr 8:27,881,091...27,886,015
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G
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Il1a
|
interleukin 1 alpha
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:7979221 |
|
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
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G
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Il1b
|
interleukin 1 beta
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:7979221 |
|
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
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G
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Il6
|
interleukin 6
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:7979221 |
|
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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G
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Lars2
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leucyl-tRNA synthetase 2, mitochondrial
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|
ISO
|
ClinVar Annotator: match by term: Mitochondrial Myopathies
|
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28430790 PMID:28492532 PMID:32442335 More...
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NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:131,887,753...131,983,866
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G
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Msto1
|
misato mitochondrial distribution and morphology regulator 1
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|
ISO
|
ClinVar Annotator: match by term: Mitochondrial Myopathies
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:31463572 PMID:31604776 |
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NCBI chr 2:176,603,755...176,608,037
Ensembl chr 2:176,599,671...176,608,026
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G
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Mt-cyb
|
mitochondrially encoded cytochrome b
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|
ISO
|
ClinVar Annotator: match by term: Mitochondrial Myopathies
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ClinVar |
PMID:28027978 |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,124...15,266
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G
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Pus1
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pseudouridine synthase 1
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|
ISO
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ClinVar Annotator: match by term: Mitochondrial Myopathies
|
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:51,539,659...51,548,975
Ensembl chr12:51,540,212...51,548,973
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G
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Rrm2b
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ribonucleotide reductase regulatory TP53 inducible subunit M2B
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17486094 PMID:19138848 |
|
NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670
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G
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Slc25a4
|
solute carrier family 25 member 4
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|
ISO
|
ClinVar Annotator: match by term: Mitochondrial Myopathies
|
ClinVar RGD |
PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 PMID:28823815 PMID:29654543 PMID:33923309 PMID:16155110 More...
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RGD:1580619 |
NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700
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G
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Slc25a42
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solute carrier family 25, member 42
|
|
ISO
|
ClinVar Annotator: match by term: Mitochondrial Myopathies
|
ClinVar |
PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576 |
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NCBI chr16:19,247,874...19,286,598
Ensembl chr16:19,247,725...19,270,976
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G
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Tk2
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thymidine kinase 2
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|
ISO
|
ClinVar Annotator: match by term: Mitochondrial Myopathies
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:29783828 PMID:33013660 PMID:35289132 PMID:37715114 More...
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NCBI chr19:713,043...737,345
Ensembl chr19:715,318...738,355
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G
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Tnf
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tumor necrosis factor
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:7979221 |
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NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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G
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Vdac1
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voltage-dependent anion channel 1
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:8726225 |
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NCBI chr10:37,029,377...37,060,542
Ensembl chr10:37,023,145...37,060,541
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G
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Aqp4
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aquaporin 4
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|
ISO
|
|
RGD |
PMID:20680636 |
RGD:5148026 |
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098
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G
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Edar
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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 More...
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NCBI chr20:27,130,934...27,209,672
Ensembl chr20:27,130,934...27,209,630
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G
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Fanci
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FA complementation group I
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ISO
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ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
|
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452773 PMID:17460694 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18546365 PMID:18991199 PMID:19010300 PMID:19538466 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:22237560 PMID:23430898 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:28958595 PMID:30423451 PMID:30451971 PMID:30634555 PMID:31655921 PMID:33486010 PMID:35478072 More...
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NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:142,736,653...142,792,999
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G
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Polg
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DNA polymerase gamma, catalytic subunit
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susceptibility
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ISO IAGP
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DNA:mutations:cds: ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy DNA:missense mutation:cds:p.P1073L (3218C>T) (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:
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ClinVar CTD OMIM RGD |
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 PMID:2504279 PMID:2725645 PMID:7847370 PMID:9500334 PMID:9536098 PMID:11301032 PMID:11431686 PMID:11555352 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:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16682683 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17452773 PMID:17460694 PMID:17502560 PMID:17538929 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 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:19221117 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19500334 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:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20400524 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20558295 PMID:20576279 PMID:20601675 PMID:20685647 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21167499 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21270786 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21447491 PMID:21455106 PMID:21484424 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:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22215559 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22377773 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22805437 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22980518 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:23419467 PMID:23426270 PMID:23430834 PMID:23430898 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23596069 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23830586 PMID:23836942 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24086434 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24194468 PMID:24259288 PMID:24265579 PMID:24266892 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24828792 PMID:24841123 PMID:24986207 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25129007 PMID:25160553 PMID:25193669 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25412673 PMID:25429852 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25497598 PMID:25525159 PMID:25585994 PMID:25638290 PMID:25660390 PMID:25713120 PMID:25724872 PMID:25741868 PMID:25741916 PMID:25742477 PMID:25771874 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26132555 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26341968 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26640698 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27101133 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27349602 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27475922 PMID:27527004 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27854218 PMID:27917773 PMID:27981572 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28815208 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28924877 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29420653 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29590070 PMID:29644085 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:29997391 PMID:30009132 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30385167 PMID:30393377 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30478137 PMID:30487145 PMID:30552426 PMID:30609409 PMID:30634555 PMID:30637288 PMID:30678510 PMID:30755392 PMID:30818899 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31075681 PMID:31085725 PMID:31130284 PMID:31147703 PMID:31164858 PMID:31209396 PMID:31359948 PMID:31425757 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31731261 PMID:31762033 PMID:31765440 PMID:31799610 PMID:31843010 PMID:31847883 PMID:31921313 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32161153 PMID:32165824 PMID:32183364 PMID:32234506 PMID:32305867 PMID:32347949 PMID:32348839 PMID:32364361 PMID:32382377 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32504279 PMID:32531456 PMID:32567010 PMID:32600829 PMID:32613234 PMID:32668698 PMID:32703289 PMID:32949115 PMID:32964447 PMID:33046616 PMID:33057194 PMID:33233646 PMID:33258288 PMID:33278787 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33484326 PMID:33486010 PMID:33513296 PMID:33528536 PMID:33579567 PMID:33600046 PMID:33671400 PMID:33683010 PMID:33726816 PMID:33763395 PMID:33791913 PMID:33809641 PMID:33931544 PMID:33956154 PMID:34008892 PMID:34023347 PMID:34052969 PMID:34062649 PMID:34189666 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34445196 PMID:34490615 PMID:34504347 PMID:34504726 PMID:34573359 PMID:34670123 PMID:34690748 PMID:34732400 PMID:34755241 PMID:34777884 PMID:34782754 PMID:34803902 PMID:34927673 PMID:34986040 PMID:35101151 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35292633 PMID:35298342 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35488641 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35760101 PMID:35790454 PMID:35799515 PMID:35811315 PMID:35811324 PMID:35860755 PMID:35861376 PMID:35982159 PMID:36065636 PMID:36099812 PMID:36157077 PMID:36325100 PMID:36332611 PMID:36342673 PMID:36353900 PMID:36403551 PMID:36658419 PMID:36689859 PMID:36703223 PMID:36703500 PMID:36732629 PMID:36838782 PMID:36918699 PMID:36964972 PMID:36987741 PMID:37084649 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37189790 PMID:37256495 PMID:37301908 PMID:37349538 PMID:37510298 PMID:38012111 PMID:38294884 PMID:38434220 PMID:38465286 PMID:38534782 PMID:38693247 PMID:38703036 PMID:38772265 PMID:38845467 PMID:39118480 PMID:39825153 PMID:15689359 PMID:20142534 PMID:16896309 PMID:22237560 More...
|
RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 |
NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838
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|
G
|
Polrmt
|
RNA polymerase mitochondrial
|
|
ISO
|
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
|
ClinVar |
PMID:25741868 |
|
NCBI chr 7:10,610,149...10,620,411
Ensembl chr 7:10,610,198...10,621,205
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|
G
|
Ranbp2
|
RAN binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
|
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,985,275...27,036,571
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|
G
|
Rlbp1
|
retinaldehyde binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
|
ClinVar |
PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 |
|
NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:142,718,262...142,731,621
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|
|
G
|
Fanci
|
FA complementation group I
|
|
ISO
|
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
|
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
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|
NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:142,736,653...142,792,999
|
|
G
|
Polg
|
DNA polymerase gamma, catalytic subunit
|
|
ISO
|
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2725645 PMID:7847370 PMID:9536098 PMID:11431686 PMID:11555352 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:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17418573 PMID:17420318 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17538929 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 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:19307547 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:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20558295 PMID:20576279 PMID:20601675 PMID:20691285 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:21484424 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:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 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:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24828792 PMID:24986207 PMID:25025039 PMID:25118206 PMID:25129007 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25724872 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27101133 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29590070 PMID:29655203 PMID:29913018 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30478137 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30678510 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31147703 PMID:31164858 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31765440 PMID:31921313 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32161153 PMID:32165824 PMID:32183364 PMID:32234506 PMID:32305867 PMID:32347949 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32949115 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33683010 PMID:33726816 PMID:33763395 PMID:33791913 PMID:33809641 PMID:33956154 PMID:34008892 PMID:34023347 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34445196 PMID:34490615 PMID:34504347 PMID:34504726 PMID:34670123 PMID:34690748 PMID:34732400 PMID:34755241 PMID:34777884 PMID:34782754 PMID:34803902 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35292633 PMID:35298342 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35760101 PMID:35790454 PMID:35799515 PMID:35860755 PMID:35861376 PMID:36065636 PMID:36325100 PMID:36332611 PMID:36342673 PMID:36353900 PMID:36403551 PMID:36658419 PMID:36703223 PMID:36703500 PMID:36732629 PMID:36838782 PMID:36918699 PMID:36964972 PMID:36987741 PMID:37084649 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37189790 PMID:37256495 PMID:37349538 PMID:38012111 PMID:38294884 PMID:38534782 PMID:38772265 PMID:38845467 More...
|
|
NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838
|
|
G
|
Twnk
|
twinkle mtDNA helicase
|
|
ISO
|
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
|
ClinVar |
PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162
|
|
|
G
|
Slc25a4
|
solute carrier family 25 member 4
|
|
ISO
|
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:8644740 PMID:9207786 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 PMID:16155110 PMID:21549803 PMID:22497660 PMID:23401503 PMID:25732997 PMID:25741868 PMID:26265630 PMID:26467025 PMID:27693233 PMID:28492532 PMID:28823815 PMID:29654543 PMID:29892051 PMID:30174309 PMID:31028937 PMID:33923309 More...
|
|
NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700
|
|
|
G
|
Twnk
|
twinkle mtDNA helicase
|
|
ISO
|
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 PMID:12872260 PMID:15668446 PMID:16639411 PMID:17272269 PMID:17614277 PMID:17620490 PMID:18279890 PMID:18575922 PMID:18971204 PMID:18973250 PMID:19084593 PMID:19353676 PMID:19428252 PMID:19513767 PMID:20301746 PMID:20479361 PMID:20659899 PMID:20880070 PMID:21681116 PMID:21689831 PMID:24014582 PMID:24018892 PMID:24076137 PMID:24086434 PMID:25133958 PMID:25355836 PMID:25741868 PMID:25989649 PMID:26206283 PMID:26467025 PMID:26469001 PMID:26970254 PMID:27551684 PMID:28178980 PMID:28454995 PMID:28492532 PMID:28812649 PMID:29095814 PMID:29458409 PMID:30496414 PMID:30770810 PMID:30799093 PMID:31271879 PMID:31455392 PMID:31852434 PMID:32161153 PMID:32619254 PMID:33095980 PMID:33396418 PMID:34409151 PMID:34732400 PMID:35011763 PMID:35286480 PMID:35289132 PMID:35641312 PMID:36099812 PMID:37302426 PMID:37349538 PMID:38703036 More...
|
|
NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162
|
|
|
G
|
Milr1
|
mast cell immunoglobulin-like receptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
|
ClinVar |
PMID:9536098 PMID:16685652 PMID:17576681 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 PMID:38703036 More...
|
|
NCBI chr10:92,184,002...92,205,001
Ensembl chr10:92,187,479...92,205,003
|
|
G
|
Polg2
|
DNA polymerase gamma 2, accessory subunit
|
|
ISO
|
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:9536098 PMID:16685652 PMID:17576681 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 PMID:38703036 More...
|
|
NCBI chr10:92,212,303...92,222,849
Ensembl chr10:92,212,304...92,222,726
|
|
|
G
|
Rrm2b
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B
|
|
ISO
|
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:8130196 PMID:12859174 PMID:17486094 PMID:18504129 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 PMID:24086434 PMID:24741716 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:29241262 PMID:30049826 PMID:31462754 PMID:31521625 PMID:31794469 PMID:33144682 PMID:34706366 PMID:38991193 More...
|
|
NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670
|
|
|
G
|
Fanci
|
FA complementation group I
|
|
ISO
|
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1
|
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
|
|
NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:142,736,653...142,792,999
|
|
G
|
Fbn2
|
fibrillin 2
|
|
ISO
|
ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1
|
ClinVar |
PMID:25326637 PMID:28492532 |
|
NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191
|
|
G
|
Pms2
|
PMS1 homolog 2, mismatch repair system component
|
|
ISO
|
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
|
ClinVar |
PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26249686 PMID:28492532 PMID:30653781 More...
|
|
NCBI chr12:15,790,478...15,814,790
Ensembl chr12:15,790,478...15,815,248
|
|
G
|
Polg
|
DNA polymerase gamma, catalytic subunit
|
|
ISO
|
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1
|
OMIM ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:16957900 PMID:17088268 PMID:17280874 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17538929 PMID:17846414 PMID:17894835 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:19307547 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:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20558295 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 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:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 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:24828792 PMID:24986207 PMID:25025039 PMID:25118206 PMID:25129007 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25724872 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27101133 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28865037 PMID:28958595 PMID:29029963 PMID:29214156 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29590070 PMID:29655203 PMID:29913018 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30478137 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30678510 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31147703 PMID:31164858 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31762033 PMID:31765440 PMID:31921313 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32165824 PMID:32183364 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32949115 PMID:32964447 PMID:33046616 PMID:33233646 PMID:33258288 PMID:33396418 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33683010 PMID:33726816 PMID:33763395 PMID:33791913 PMID:33809641 PMID:33956154 PMID:34008892 PMID:34023347 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34445196 PMID:34490615 PMID:34504347 PMID:34504726 PMID:34670123 PMID:34690748 PMID:34732400 PMID:34755241 PMID:34782754 PMID:34803902 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35292633 PMID:35298342 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35790454 PMID:35799515 PMID:35860755 PMID:35861376 PMID:36065636 PMID:36325100 PMID:36332611 PMID:36342673 PMID:36353900 PMID:36403551 PMID:36658419 PMID:36703223 PMID:36703500 PMID:36732629 PMID:36838782 PMID:36918699 PMID:36964972 PMID:36987741 PMID:37084649 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37189790 PMID:37256495 PMID:37349538 PMID:38012111 PMID:38294884 PMID:38534782 PMID:38703036 PMID:38772265 PMID:38845467 More...
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NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838
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G
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Smad9
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SMAD family member 9
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ISO
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ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1
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ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr 2:141,106,668...141,156,477
Ensembl chr 2:141,106,668...141,156,477
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G
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Rnaseh1
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ribonuclease H1
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ISO
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ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | ClinVar Annotator: match by term: RNASEH1-related condition
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OMIM ClinVar |
PMID:21270786 PMID:25741868 PMID:26094573 PMID:27981572 PMID:28492532 PMID:28508084 PMID:30340744 PMID:35711919 More...
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NCBI chr 6:51,011,244...51,020,638
Ensembl chr 6:51,011,234...51,020,627
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G
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Tk2
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thymidine kinase 2
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ISO
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ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | ClinVar Annotator: match by term: TK2-related condition
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OMIM ClinVar |
PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 PMID:15639197 PMID:15907288 PMID:16504786 PMID:16908738 PMID:18508266 PMID:18819985 PMID:19265691 PMID:21937588 PMID:22345218 PMID:23303857 PMID:23932787 PMID:23963299 PMID:24033266 PMID:24484525 PMID:25326635 PMID:25446393 PMID:25741868 PMID:25948719 PMID:26224072 PMID:26467025 PMID:27839525 PMID:28207748 PMID:28492532 PMID:28812460 PMID:29602790 PMID:29735374 PMID:29783828 PMID:31060578 PMID:31125140 PMID:32904881 PMID:33013660 PMID:33087887 PMID:35289132 PMID:35907766 PMID:37377599 PMID:37715114 PMID:38177409 More...
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NCBI chr19:713,043...737,345
Ensembl chr19:715,318...738,355
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G
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Dguok
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deoxyguanosine kinase
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ISO
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ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
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OMIM ClinVar |
PMID:9536098 PMID:11983456 PMID:12205643 PMID:14568816 PMID:14623087 PMID:16263314 PMID:16908739 PMID:17073823 PMID:17452231 PMID:17576681 PMID:18205204 PMID:19103789 PMID:19125351 PMID:19265691 PMID:23043144 PMID:24321534 PMID:24423689 PMID:24642831 PMID:25131622 PMID:25741868 PMID:26874653 PMID:27324545 PMID:28492532 PMID:28493820 PMID:28902392 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30366773 PMID:30393377 PMID:30589726 PMID:30956829 PMID:31664448 PMID:32482602 More...
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NCBI chr 4:117,544,784...117,572,414
Ensembl chr 4:117,544,773...117,572,414
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G
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Top3a
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DNA topoisomerase III alpha
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ISO
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ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
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OMIM ClinVar |
PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:30057030 PMID:36544354 PMID:37013609 More...
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NCBI chr10:45,915,625...45,956,856
Ensembl chr10:45,915,625...45,956,856
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G
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Rrm1
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ribonucleotide reductase catalytic subunit M1
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ISO
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ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder
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OMIM ClinVar |
PMID:25741868 PMID:35617047 |
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NCBI chr 1:166,235,904...166,260,206
Ensembl chr 1:166,235,900...166,260,944
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G
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Il1a
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interleukin 1 alpha
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:7979221 |
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NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
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G
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Il1b
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interleukin 1 beta
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:7979221 |
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NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
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G
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Milr1
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mast cell immunoglobulin-like receptor 1
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ISO
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ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
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ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
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NCBI chr10:92,184,002...92,205,001
Ensembl chr10:92,187,479...92,205,003
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G
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Polg
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DNA polymerase gamma, catalytic subunit
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ISO
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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)
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CTD RGD |
PMID:17923349 PMID:11431686 PMID:17420318 PMID:16401742 PMID:12565911 PMID:12975295 More...
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RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 |
NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838
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G
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Polg2
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DNA polymerase gamma 2, accessory subunit
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ISO
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ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
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ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
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NCBI chr10:92,212,303...92,222,849
Ensembl chr10:92,212,304...92,222,726
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G
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Rrm2b
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ribonucleotide reductase regulatory TP53 inducible subunit M2B
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ISO
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ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
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ClinVar |
PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 PMID:28492532 PMID:32161153 More...
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NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670
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G
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Slc25a4
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solute carrier family 25 member 4
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ISO
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ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
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ClinVar RGD |
PMID:12565915 PMID:15792871 |
RGD:1580622, RGD:1580620 |
NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700
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G
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Sod1
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superoxide dismutase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:11907800 |
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NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
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G
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Sod2
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superoxide dismutase 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:11907800 PMID:14680979 |
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NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168
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G
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Twnk
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twinkle mtDNA helicase
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susceptibility
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ISO
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DNA:mutations ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
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ClinVar RGD |
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:31133750 PMID:32161153 PMID:35289132 PMID:35982159 PMID:11431692 More...
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RGD:1600544 |
NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162
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G
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Avil
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advillin
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ISO
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ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
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ClinVar |
PMID:25741868 |
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NCBI chr 7:64,711,294...64,729,436
Ensembl chr 7:64,711,403...64,729,436
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G
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Tsfm
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Ts translation elongation factor, mitochondrial
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ISO
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ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25078778 PMID:25741868 PMID:27677415 PMID:28074886 PMID:28492532 PMID:29261183 PMID:30911037 PMID:31267352 PMID:33816677 PMID:38703036 More...
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NCBI chr 7:64,714,330...64,750,106
Ensembl chr 7:64,714,036...64,750,171
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G
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Aifm1
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apoptosis inducing factor, mitochondria associated 1
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ISO
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ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 PMID:25741868 PMID:25986071 PMID:26173962 PMID:26467025 PMID:28492532 PMID:31178897 PMID:31850270 PMID:32376792 PMID:32860223 PMID:34416374 More...
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NCBI chr X:132,528,107...132,567,237
Ensembl chr X:132,528,107...132,567,237
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G
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Rab33a
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RAB33A, member RAS oncogene family
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ISO
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ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy
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ClinVar |
PMID:9536098 PMID:17576681 PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 PMID:25741868 PMID:25986071 PMID:26173962 PMID:26467025 PMID:28492532 PMID:31178897 PMID:31850270 PMID:32376792 PMID:32860223 PMID:34416374 More...
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NCBI chr X:132,572,133...132,584,255
Ensembl chr X:132,572,148...132,584,254
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G
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Mtrfr
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mitochondrial translation release factor in rescue
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ISO
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OMIM |
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NCBI chr12:37,922,532...37,936,219
Ensembl chr12:37,919,398...37,936,219
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G
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Dcc
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DCC netrin 1 receptor
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:28250456 |
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NCBI chr18:67,144,272...68,248,159
Ensembl chr18:67,149,179...68,247,541
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G
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Robo3
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roundabout guidance receptor 3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 8:45,322,323...45,340,466
Ensembl chr 8:45,323,344...45,340,222
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G
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Robo3
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roundabout guidance receptor 3
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ISO
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ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 | ClinVar Annotator: match by term: ROBO3-related condition
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OMIM ClinVar |
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 PMID:19633821 PMID:21850172 PMID:24969490 PMID:25326635 PMID:25741868 PMID:27318526 PMID:28024310 PMID:28492532 PMID:29215389 PMID:32373565 PMID:32580277 PMID:32860008 PMID:34374989 PMID:36186627 More...
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NCBI chr 8:45,322,323...45,340,466
Ensembl chr 8:45,323,344...45,340,222
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G
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Dcc
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DCC netrin 1 receptor
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ISO
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ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2
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OMIM ClinVar |
PMID:25741868 PMID:28250456 PMID:28492532 |
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NCBI chr18:67,144,272...68,248,159
Ensembl chr18:67,149,179...68,247,541
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G
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C20h22orf15
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similar to human chromosome 22 open reading frame 15
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ISO
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ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance
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ClinVar |
PMID:28492532 |
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NCBI chr20:12,720,651...12,725,304
Ensembl chr20:12,722,600...12,725,304
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G
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Chchd10
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coiled-coil-helix-coiled-coil-helix domain containing 10
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ISO ISS
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ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance | ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant OMIM:616209
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OMIM ClinVar MouseDO |
PMID:4104978 PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:24934289 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25428574 PMID:25576308 PMID:25681414 PMID:25700176 PMID:25726362 PMID:25741868 PMID:25833818 PMID:26131548 PMID:26152333 PMID:26224640 PMID:27066538 PMID:27578015 PMID:27810918 PMID:28069311 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29540477 PMID:29789341 PMID:30014597 PMID:31690696 PMID:33749723 PMID:35700042 PMID:36158221 PMID:36284339 PMID:39825153 More...
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NCBI chr20:12,725,274...12,730,295
Ensembl chr20:12,725,277...12,745,677
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G
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Il1a
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interleukin 1 alpha
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:7979221 |
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NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
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G
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Il1b
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interleukin 1 beta
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:7979221 |
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NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
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G
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Mt-atp6
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mitochondrially encoded ATP synthase membrane subunit 6
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ISO
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ClinVar Annotator: match by term: Kearns-Sayre syndrome
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ClinVar |
PMID:20301382 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584
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G
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Mt-atp8
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mitochondrially encoded ATP synthase membrane subunit 8
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ISO
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ClinVar Annotator: match by term: Kearns-Sayre syndrome
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ClinVar |
PMID:20301382 |
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NCBI chr MT:7,758...7,961
Ensembl chr MT:7,743...7,946
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G
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Mt-co3
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mitochondrially encoded cytochrome c oxidase III
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ISO
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ClinVar Annotator: match by term: Kearns-Sayre syndrome
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ClinVar |
PMID:20301382 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,584...9,367
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G
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Mt-nd3
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
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ISO
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ClinVar Annotator: match by term: Kearns-Sayre syndrome
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ClinVar |
PMID:20301382 |
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,436...9,783
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G
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Mt-nd4
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
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ISO
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ClinVar Annotator: match by term: Kearns-Sayre syndrome
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ClinVar |
PMID:20301382 |
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,145...11,522
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G
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Mt-nd4l
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
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ISO
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ClinVar Annotator: match by term: Kearns-Sayre syndrome
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ClinVar |
PMID:20301382 |
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NCBI chr MT:9,870...10,166
Ensembl chr MT:9,855...10,151
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G
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Mt-nd5
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
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ISO
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ClinVar Annotator: match by term: Kearns-Sayre syndrome
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ClinVar |
PMID:20301382 |
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NCBI chr MT:11,736...13,565
Ensembl chr MT:11,721...13,553
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G
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Ppargc1a
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PPARG coactivator 1 alpha
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ISO
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RGD |
PMID:23406886 |
RGD:7241824 |
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213
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G
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Tfam
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transcription factor A, mitochondrial
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ISS
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OMIM:530000
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MouseDO |
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NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,355,363...17,369,877
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G
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Il1a
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interleukin 1 alpha
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:7979221 |
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NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
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G
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Il1b
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interleukin 1 beta
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:7979221 |
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NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
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G
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Mt-atp6
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mitochondrially encoded ATP synthase membrane subunit 6
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ISO
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ClinVar Annotator: match by term: MELAS syndrome
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ClinVar |
PMID:15466014 PMID:15972314 PMID:16849371 PMID:21364701 PMID:25037980 PMID:25741868 PMID:27812026 PMID:29350304 More...
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584
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G
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Mt-atp8
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mitochondrially encoded ATP synthase membrane subunit 8
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ISO
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ClinVar Annotator: match by term: MELAS syndrome
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ClinVar |
PMID:15466014 PMID:15972314 PMID:16849371 PMID:21364701 PMID:25741868 |
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NCBI chr MT:7,758...7,961
Ensembl chr MT:7,743...7,946
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G
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Mt-co1
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mitochondrially encoded cytochrome c oxidase I
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MELAS syndrome
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CTD ClinVar |
PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 PMID:8572257 PMID:9450881 PMID:9742104 PMID:11069477 PMID:11175301 PMID:15466014 PMID:15972314 PMID:16849371 PMID:19568996 PMID:20301595 PMID:21364701 PMID:25741868 PMID:31965079 PMID:32906214 More...
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,309...6,853
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G
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Mt-co2
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mitochondrially encoded cytochrome c oxidase II
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MELAS syndrome
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CTD ClinVar |
PMID:15466014 PMID:15972314 PMID:16849371 PMID:21364701 PMID:25741868 |
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NCBI chr MT:7,006...7,689
Ensembl chr MT:6,991...7,674
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G
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Mt-co3
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mitochondrially encoded cytochrome c oxidase III
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ISO
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DNA:mutation:exon:m.9957T>C (F251L)(human) ClinVar Annotator: match by term: MELAS syndrome CTD Direct Evidence: marker/mechanism
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ClinVar CTD RGD |
PMID:7496173 PMID:15823923 PMID:18587274 PMID:25741868 PMID:18587274 |
RGD:5491184 |
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,584...9,367
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G
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Mt-cyb
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mitochondrially encoded cytochrome b
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MELAS syndrome
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CTD ClinVar |
PMID:22638077 PMID:32906214 |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,124...15,266
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G
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Mt-nd1
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
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ISO
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DNA:snps:cds:m.3697G>A, m.3946G>A, m.3949T>C (human) ClinVar Annotator: match by term: MELAS syndrome CTD Direct Evidence: marker/mechanism
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ClinVar CTD RGD |
PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:7520241 PMID:8496715 PMID:10976107 PMID:11854175 PMID:15342361 PMID:15466014 PMID:15720387 PMID:15883259 PMID:15972314 PMID:16738010 PMID:16849371 PMID:16969869 PMID:17535832 PMID:17562939 PMID:17620555 PMID:18504678 PMID:18590963 PMID:18977334 PMID:20301353 PMID:21364701 PMID:22079202 PMID:23273904 PMID:24830958 PMID:25741868 PMID:30143805 PMID:31965079 PMID:32355048 PMID:32906214 PMID:35383288 PMID:15466014 More...
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RGD:5490235 |
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685
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G
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Mt-nd2
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
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ISO
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ClinVar Annotator: match by term: MELAS syndrome
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ClinVar |
PMID:15466014 PMID:15972314 PMID:16849371 PMID:21364701 PMID:25741868 |
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NCBI chr MT:3,904...4,942
Ensembl chr MT:3,892...4,929
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G
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Mt-nd3
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
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ISO
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ClinVar Annotator: match by term: MELAS syndrome
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ClinVar |
PMID:32906214 |
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,436...9,783
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G
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Mt-nd4
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
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ISO
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ClinVar Annotator: match by term: MELAS syndrome
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ClinVar |
PMID:1323207 PMID:3395302 PMID:8213827 |
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,145...11,522
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G
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Mt-nd5
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
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ISO
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DNA:mutations:exons:p. D393N, M237T (human) ClinVar Annotator: match by term: MELAS syndrome CTD Direct Evidence: marker/mechanism DNA:mutation:exon:m.13513G>A (D393N)(human) DNA:mutation:exon:m.13849A>C (N505H)(human)
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ClinVar CTD RGD |
PMID:7654063 PMID:8016139 PMID:8622678 PMID:9299505 PMID:10589546 PMID:10894222 PMID:11102991 PMID:11198278 PMID:12509858 PMID:12624137 PMID:12796552 PMID:14520659 PMID:14730434 PMID:14735584 PMID:14735585 PMID:15521990 PMID:15767514 PMID:16306525 PMID:16380132 PMID:16816025 PMID:17400793 PMID:17940288 PMID:18332249 PMID:18977334 PMID:20018511 PMID:20301353 PMID:21749722 PMID:22022272 PMID:22249460 PMID:22426787 PMID:22577219 PMID:25741868 PMID:26894521 PMID:28503604 PMID:29408632 PMID:30143805 PMID:32045392 PMID:32906214 PMID:21850008 PMID:10589546 PMID:18587274 More...
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RGD:5491173, RGD:5507825, RGD:5491184 |
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,721...13,553
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G
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Mt-nd6
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MELAS syndrome
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CTD ClinVar |
PMID:7654063 PMID:8016139 PMID:8622678 PMID:10894222 PMID:11781695 PMID:12205655 PMID:14520668 PMID:14595656 PMID:14684687 PMID:14735584 PMID:14735585 PMID:16337195 PMID:16380132 PMID:17535832 PMID:20019223 PMID:20301353 PMID:21749722 PMID:22426787 PMID:24126373 PMID:25741868 PMID:26530508 PMID:28122886 PMID:28503604 PMID:29408632 PMID:30143805 PMID:30741831 PMID:32045392 PMID:32162843 PMID:32906214 PMID:33706792 PMID:34223155 PMID:35715829 More...
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,531...14,049
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G
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Ndufs1
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NADH:ubiquinone oxidoreductase core subunit S1
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ISO
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ClinVar Annotator: match by term: MELAS syndrome
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ClinVar |
PMID:22499341 |
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NCBI chr 9:72,040,286...72,073,605
Ensembl chr 9:72,040,090...72,073,605
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G
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Polg
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DNA polymerase gamma, catalytic subunit
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ISO
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ClinVar Annotator: match by term: MELAS syndrome
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ClinVar |
PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 PMID:19887119 PMID:20176107 PMID:21550804 PMID:21880868 PMID:22189570 PMID:22357363 PMID:22987704 PMID:23250882 PMID:23419467 PMID:24091540 PMID:25462018 PMID:25741868 PMID:25852747 PMID:26467025 PMID:27917773 PMID:27987238 PMID:28492532 PMID:28756246 PMID:28958595 PMID:29214156 PMID:29992832 PMID:30941926 PMID:30951992 PMID:31521625 PMID:31665838 PMID:32005694 PMID:32165824 PMID:32348839 PMID:32502631 PMID:33763395 PMID:34690748 PMID:35478072 PMID:35598585 PMID:36918699 PMID:37168916 PMID:38012111 More...
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NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838
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G
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Sod1
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superoxide dismutase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:11907800 |
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NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
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G
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Sod2
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superoxide dismutase 2
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:11907800 |
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NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168
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G
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Il1a
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interleukin 1 alpha
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:7979221 |
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NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
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G
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Il1b
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interleukin 1 beta
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:7979221 |
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NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
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G
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Mt-cyb
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mitochondrially encoded cytochrome b
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ISO
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ClinVar Annotator: match by term: Myoencephalopathy ragged-red fiber disease
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ClinVar |
PMID:25741868 |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,124...15,266
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G
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Mt-nd5
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
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ISO
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ClinVar Annotator: match by term: MERRF syndrome
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ClinVar |
PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868 |
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NCBI chr MT:11,736...13,565
Ensembl chr MT:11,721...13,553
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|
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G
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Coa6
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cytochrome c oxidase assembly factor 6
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ISO
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ClinVar Annotator: match by term: COA6-related condition | ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
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OMIM ClinVar |
PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 PMID:26160915 PMID:28492532 PMID:38703036 More...
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NCBI chr19:71,293,066...71,295,668
Ensembl chr19:71,278,765...71,296,015
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G
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Coa5
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cytochrome C oxidase assembly factor 5
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
|
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NCBI chr 9:47,147,267...47,160,724
Ensembl chr 9:47,147,267...47,160,672
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G
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Coa6
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cytochrome c oxidase assembly factor 6
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
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NCBI chr19:71,293,066...71,295,668
Ensembl chr19:71,278,765...71,296,015
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G
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Cox15
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cytochrome c oxidase assembly homolog COX15
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 1:252,554,811...252,571,471
Ensembl chr 1:252,554,811...252,571,471
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G
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Ncaph2
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non-SMC condensin II complex, subunit H2
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ISO
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ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: SCO2-related condition
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ClinVar |
PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18804471 PMID:18924171 PMID:19353847 PMID:19879173 PMID:20159436 PMID:20445193 PMID:23345593 PMID:23407777 PMID:23643385 PMID:23719228 PMID:24215330 PMID:25058219 PMID:25097374 PMID:25741868 PMID:25959673 PMID:26427993 PMID:27290639 PMID:27629047 PMID:28429146 PMID:28492532 PMID:28518168 PMID:28798025 PMID:29193756 PMID:29351582 PMID:30340907 PMID:30593977 PMID:31589614 PMID:31623504 PMID:31844624 PMID:31967322 PMID:32461654 PMID:32600061 PMID:32668698 PMID:33098801 PMID:33171185 PMID:34362006 PMID:34426522 PMID:34691145 PMID:34732400 PMID:34746378 PMID:35083221 PMID:35094435 PMID:36675121 PMID:36678915 PMID:38703036 PMID:39825153 More...
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NCBI chr 7:122,302,550...122,319,570
Ensembl chr 7:122,300,252...122,319,569
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G
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Tymp
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thymidine phosphorylase
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ISO
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ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
|
ClinVar |
PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:122,316,520...122,324,003
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G
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Cox15
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cytochrome c oxidase assembly homolog COX15
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ISO
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ClinVar Annotator: match by term: COX15-related condition | ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
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OMIM ClinVar |
PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 PMID:16199547 PMID:17576681 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26940873 PMID:26959537 PMID:28492532 PMID:31102535 PMID:31967322 PMID:32232962 PMID:33746038 PMID:38703036 More...
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NCBI chr 1:252,554,811...252,571,471
Ensembl chr 1:252,554,811...252,571,471
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G
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Coa5
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cytochrome C oxidase assembly factor 5
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ISO
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ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
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ClinVar OMIM |
PMID:21457908 |
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NCBI chr 9:47,147,267...47,160,724
Ensembl chr 9:47,147,267...47,160,672
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G
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Gdap1
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ganglioside-induced differentiation-associated-protein 1
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ISO
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ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
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ClinVar |
PMID:28492532 |
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NCBI chr 5:6,715,935...6,735,013
Ensembl chr 5:6,715,935...6,735,313
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G
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Jph1
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junctophilin 1
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ISO
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ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
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ClinVar |
PMID:28492532 |
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NCBI chr 5:6,813,553...6,920,488
Ensembl chr 5:6,813,602...6,906,241
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G
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Ly96
|
lymphocyte antigen 96
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ISO
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ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
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ClinVar |
PMID:21147908 PMID:28492532 |
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NCBI chr 5:7,365,536...7,397,864
Ensembl chr 5:7,365,557...7,395,816
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G
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Tmem70
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transmembrane protein 70
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ISO
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ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
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OMIM ClinVar |
PMID:1895334 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18953340 PMID:20335238 PMID:20728387 PMID:20920610 PMID:20937241 PMID:21147908 PMID:21815885 PMID:21945727 PMID:22433607 PMID:22986587 PMID:24033266 PMID:24485043 PMID:24740313 PMID:25326274 PMID:25741868 PMID:25825456 PMID:26467025 PMID:26550569 PMID:28492532 PMID:30724636 PMID:30950220 PMID:38703036 More...
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NCBI chr 5:7,420,396...7,438,023
Ensembl chr 5:7,420,396...7,438,023
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G
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Mgme1
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mitochondrial genome maintenance exonuclease 1
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ISO
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ClinVar Annotator: match by term: MGME1-related condition | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11
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OMIM ClinVar |
PMID:23313956 PMID:25741868 PMID:28097321 PMID:28492532 PMID:28711739 |
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NCBI chr 3:152,094,514...152,103,314
Ensembl chr 3:152,094,658...152,103,313
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G
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Clcnkb
|
chloride voltage-gated channel Kb
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
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ClinVar |
PMID:21415153 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 5:158,993,073...159,005,618
Ensembl chr 5:158,993,074...159,004,900
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G
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Ednrb
|
endothelin receptor type B
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ISO
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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 More...
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NCBI chr15:87,055,490...87,086,765
Ensembl chr15:87,057,691...87,086,765
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G
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Slc25a4
|
solute carrier family 25 member 4
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
|
OMIM ClinVar |
PMID:25741868 PMID:26265630 PMID:26467025 PMID:27693233 PMID:28492532 PMID:32827528 More...
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NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700
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G
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Slc25a4
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solute carrier family 25 member 4
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
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OMIM ClinVar |
PMID:7609449 PMID:8479824 PMID:9207786 PMID:16155110 PMID:21549803 PMID:22187496 PMID:22497660 PMID:23401503 PMID:25732997 PMID:25741868 PMID:26265630 PMID:26467025 PMID:27693233 PMID:28492532 PMID:28823815 PMID:29654543 PMID:29892051 PMID:30174309 PMID:31028937 PMID:33923309 PMID:38703036 More...
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NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700
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G
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Fbxl4
|
F-box and leucine-rich repeat protein 4
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ISO
|
ClinVar Annotator: match by term: FBXL4-related condition | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
|
OMIM ClinVar |
PMID:16199547 PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25868664 PMID:26633545 PMID:27099744 PMID:27182039 PMID:27182309 PMID:27290639 PMID:27743463 PMID:27848944 PMID:27858371 PMID:28327206 PMID:28492532 PMID:28940506 PMID:30369941 PMID:30771478 PMID:30804983 PMID:31102535 PMID:31130284 PMID:31474762 PMID:32348839 PMID:32445240 PMID:32525278 PMID:32576985 PMID:33486010 PMID:33726816 PMID:34052969 PMID:34056100 PMID:34602956 PMID:36896912 PMID:38703036 PMID:39825153 More...
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NCBI chr 5:40,752,513...40,826,154
Ensembl chr 5:40,752,521...40,850,826
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G
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Opa1
|
OPA1, mitochondrial dynamin like GTPase
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ISO
|
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
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ClinVar OMIM |
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:16785854 PMID:17306754 PMID:17722006 PMID:18222991 PMID:18496845 PMID:19319978 PMID:19581274 PMID:19900585 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23384603 PMID:23401657 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25641387 PMID:25699009 PMID:25741868 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:27290639 PMID:27696015 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:29261183 PMID:30165240 PMID:30293569 PMID:30972688 PMID:31500643 PMID:31782039 PMID:31816670 PMID:32025183 PMID:32040484 PMID:32202296 PMID:32371413 PMID:32379273 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34242285 PMID:34426522 PMID:34732400 PMID:35146926 PMID:35741767 PMID:37091313 PMID:37510321 More...
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NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955
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G
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Mpv17
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mitochondrial inner membrane protein MPV17
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
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ClinVar |
PMID:16582910 PMID:16909392 PMID:17694548 PMID:19520594 PMID:23714749 PMID:23829229 PMID:25016221 PMID:25741868 PMID:26437932 PMID:27536553 PMID:28492532 PMID:28673863 PMID:29282788 PMID:30298599 PMID:31673878 PMID:34476298 PMID:37712079 More...
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NCBI chr 6:30,941,693...30,956,389
Ensembl chr 6:30,943,356...30,956,386
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G
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Tfam
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transcription factor A, mitochondrial
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | ClinVar Annotator: match by term: TFAM-related condition
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OMIM ClinVar |
PMID:25741868 PMID:27448789 PMID:28492532 |
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NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,355,363...17,369,877
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G
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Itm2b
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integral membrane protein 2B
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
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ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
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NCBI chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455
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G
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Lpar6
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lysophosphatidic acid receptor 6
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
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ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
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NCBI chr15:54,826,110...54,827,919
Ensembl chr15:54,823,717...54,978,783
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G
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Med4
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mediator complex subunit 4
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
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ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
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NCBI chr15:55,106,079...55,116,354
Ensembl chr15:55,105,998...55,116,429
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G
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Nudt15
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nudix hydrolase 15
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
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ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
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NCBI chr15:55,117,312...55,123,983
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G
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Rb1
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RB transcriptional corepressor 1
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
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ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
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NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857
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G
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Rcbtb2
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RCC1 and BTB domain containing protein 2
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ISO
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ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
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ClinVar |
PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 |
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NCBI chr15:54,729,367...54,774,004
Ensembl chr15:54,729,332...54,793,313
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G
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Sucla2
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succinate-CoA ligase ADP-forming subunit beta
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ISO ISS
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ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | ClinVar Annotator: match by term: SUCLA2-related condition OMIM:612073
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OMIM ClinVar MouseDO |
PMID:9536098 PMID:15877282 PMID:16199547 PMID:17287286 PMID:17301081 PMID:17576681 PMID:20301762 PMID:20843780 PMID:23759946 PMID:24033266 PMID:24659738 PMID:24986829 PMID:25741868 PMID:26467025 PMID:26475597 PMID:27651038 PMID:27913098 PMID:28492532 PMID:28749033 PMID:30315573 PMID:32404165 PMID:32718099 PMID:33231368 PMID:38703036 More...
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NCBI chr15:55,161,894...55,215,031
Ensembl chr15:55,161,868...55,215,029
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G
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Pitrm1
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pitrilysin metallopeptidase 1
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ISO
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ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia
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ClinVar |
PMID:29764912 |
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NCBI chr17:68,705,699...68,737,350
Ensembl chr17:68,705,699...68,749,717
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G
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Polg
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DNA polymerase gamma, catalytic subunit
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ISO
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ClinVar Annotator: match by term: mitochondrial hepatopathy
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ClinVar |
PMID:25741868 |
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NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838
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G
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Twnk
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twinkle mtDNA helicase
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ISO
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ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: OHAHA SYNDROME | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY | ClinVar Annotator: match by term: mitochondrial hepatopathy
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OMIM ClinVar |
PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17722119 PMID:17921179 PMID:18575922 PMID:18775955 PMID:18973250 PMID:19084593 PMID:20659899 PMID:21681116 PMID:21689831 PMID:24086434 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28454995 PMID:28492532 PMID:28776642 PMID:28812649 PMID:29302074 PMID:29458409 PMID:30496414 PMID:30799093 PMID:31055809 PMID:31133750 PMID:31455392 PMID:31823625 PMID:31852434 PMID:32619254 PMID:33095980 PMID:33486010 PMID:35641312 PMID:35792653 PMID:35982159 PMID:36099812 PMID:37302426 PMID:37349538 PMID:38703036 More...
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NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162
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G
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Fanci
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FA complementation group I
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ISO
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ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
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ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
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NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:142,736,653...142,792,999
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G
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Ncaph2
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non-SMC condensin II complex, subunit H2
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ISO
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ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
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ClinVar |
PMID:23643385 PMID:25741868 PMID:28492532 |
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NCBI chr 7:122,302,550...122,319,570
Ensembl chr 7:122,300,252...122,319,569
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G
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Polg
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DNA polymerase gamma, catalytic subunit
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ISO
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ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
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ClinVar |
PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16638794 PMID:16639411 PMID:16896309 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20558295 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20818383 PMID:20837861 PMID:20843780 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:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22357363 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24828792 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25203713 PMID:25286830 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25724872 PMID:25741868 PMID:25742477 PMID:25852747 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27101133 PMID:27111573 PMID:27119776 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27822509 PMID:27838477 PMID:27917773 PMID:27987238 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28865037 PMID:28958595 PMID:29029963 PMID:29214156 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29590070 PMID:29655203 PMID:29913018 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30423451 PMID:30451971 PMID:30478137 PMID:30487145 PMID:30609409 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31147703 PMID:31164858 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31765440 PMID:31921313 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32042919 PMID:32165824 PMID:32183364 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33683010 PMID:33726816 PMID:33763395 PMID:33791913 PMID:33809641 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34445196 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35292633 PMID:35298342 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35641312 PMID:35790454 PMID:35861376 PMID:36325100 PMID:36342673 PMID:36353900 PMID:36403551 PMID:36703223 PMID:36838782 PMID:36918699 PMID:36964972 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37256495 PMID:37349538 PMID:38012111 PMID:38294884 PMID:38534782 More...
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NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838
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G
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Rrm2b
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ribonucleotide reductase regulatory TP53 inducible subunit M2B
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ISO
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ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
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OMIM ClinVar |
PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 PMID:17576681 PMID:18504129 PMID:19125351 PMID:19138848 PMID:19616983 PMID:19664747 PMID:19667227 PMID:21297166 PMID:21378381 PMID:21646632 PMID:21951382 PMID:22176657 PMID:23107649 PMID:23307888 PMID:24086434 PMID:24741716 PMID:25326635 PMID:25326637 PMID:25502805 PMID:25741868 PMID:26167114 PMID:26467025 PMID:26546047 PMID:27290639 PMID:27483465 PMID:28482374 PMID:28492532 PMID:28639102 PMID:28812649 PMID:29241262 PMID:30049826 PMID:30439532 PMID:30909120 PMID:31130284 PMID:31462754 PMID:31521625 PMID:31589614 PMID:31794469 PMID:32161153 PMID:32313153 PMID:33144682 PMID:33300680 PMID:33858029 PMID:34706366 PMID:35188226 PMID:35237671 PMID:35286480 PMID:35756861 PMID:36959467 PMID:38703036 PMID:38991193 More...
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NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670
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G
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Tymp
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thymidine phosphorylase
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ISO
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ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
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ClinVar |
PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 PMID:14720311 PMID:14757860 PMID:15781193 PMID:16178026 PMID:16198108 PMID:16199547 PMID:16995425 PMID:17576681 PMID:19056268 PMID:19344718 PMID:19748572 PMID:19853446 PMID:20151198 PMID:20232099 PMID:20301358 PMID:21820356 PMID:22011815 PMID:23341816 PMID:23430799 PMID:23643385 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26264513 PMID:26467025 PMID:27104957 PMID:28492532 PMID:33533561 PMID:35085849 More...
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NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:122,316,520...122,324,003
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G
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Coq7
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coenzyme Q7, hydroxylase
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ISO
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protein:decreased expression:heart (mouse)
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RGD |
PMID:23255162 |
RGD:10402107 |
NCBI chr 1:182,270,570...182,285,959
Ensembl chr 1:182,269,399...182,285,508
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G
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Dnm1l
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dynamin 1-like
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:17460227 |
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NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420
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G
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Fars2
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phenylalanyl-tRNA synthetase 2, mitochondrial
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ISO
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ClinVar Annotator: match by term: Mitochondrial encephalomyopathy
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ClinVar |
PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30177229 PMID:30869852 More...
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NCBI chr17:28,524,737...28,951,818
Ensembl chr17:28,524,738...28,951,591
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G
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Fbxl4
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F-box and leucine-rich repeat protein 4
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ISO
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ClinVar Annotator: match by term: Mitochondrial encephalomyopathy
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ClinVar |
PMID:23993194 PMID:25558065 PMID:25741868 PMID:25868664 PMID:27743463 PMID:28492532 PMID:28940506 PMID:30804983 PMID:34052969 PMID:34056100 More...
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NCBI chr 5:40,752,513...40,826,154
Ensembl chr 5:40,752,521...40,850,826
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G
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Foxred1
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FAD-dependent oxidoreductase domain containing 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20858599 |
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NCBI chr 8:41,789,557...41,818,064
Ensembl chr 8:41,808,843...41,817,980
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G
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Mff
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mitochondrial fission factor
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ISO
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ClinVar Annotator: match by term: Mitochondrial encephalomyopathy
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ClinVar |
PMID:22499341 PMID:25558065 |
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NCBI chr 9:91,455,931...91,484,171
Ensembl chr 9:91,455,871...91,484,171
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G
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Mt-cyb
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mitochondrially encoded cytochrome b
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ISO
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ClinVar Annotator: match by term: Mitochondrial encephalomyopathy
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ClinVar |
PMID:11047755 |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,124...15,266
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G
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Mtrfr
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mitochondrial translation release factor in rescue
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20598281 |
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NCBI chr12:37,922,532...37,936,219
Ensembl chr12:37,919,398...37,936,219
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G
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Ndufs2
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NADH:ubiquinone oxidoreductase core subunit S2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:14729820 |
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NCBI chr13:86,186,867...86,203,914
Ensembl chr13:86,186,870...86,203,608
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G
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Ndufv2
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NADH:ubiquinone oxidoreductase core subunit V2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:14729820 |
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NCBI chr 9:113,137,305...113,157,571
Ensembl chr 9:113,137,306...113,157,520
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G
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Polg
|
DNA polymerase gamma, catalytic subunit
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ISO
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DNA:mutations:cds:p.N846S, p.P587L(human)
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RGD |
PMID:12825077 |
RGD:8694177 |
NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838
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G
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Slirp
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SRA stem-loop interacting RNA binding protein
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ISO
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ClinVar Annotator: match by term: Mitochondrial encephalomyopathy
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ClinVar |
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NCBI chr 6:112,819,684...112,828,715
Ensembl chr 6:112,819,448...112,828,715
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G
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Tmem70
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transmembrane protein 70
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:18953340 |
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NCBI chr 5:7,420,396...7,438,023
Ensembl chr 5:7,420,396...7,438,023
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G
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Tymp
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thymidine phosphorylase
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ISO
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mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome,OMIM:603041;DNA:point mutation:exon:E289A
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RGD |
PMID:9924029 |
RGD:1601000 |
NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:122,316,520...122,324,003
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G
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Foxred1
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FAD-dependent oxidoreductase domain containing 1
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ISO
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ClinVar Annotator: match by term: Mitochondrial encephalopathy
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ClinVar |
PMID:25741868 |
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NCBI chr 8:41,789,557...41,818,064
Ensembl chr 8:41,808,843...41,817,980
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G
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Mt-nd3
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
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ISO
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DNA:mutations: :m. 10191T>C, 10158T>C(human)
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RGD |
PMID:14705112 |
RGD:5507824 |
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,436...9,783
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G
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Timm50
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translocase of inner mitochondrial membrane 50
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ISO
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ClinVar Annotator: match by term: Mitochondrial encephalopathy
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ClinVar |
PMID:25741868 PMID:30190335 |
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NCBI chr 1:92,702,437...92,710,311
Ensembl chr 1:92,702,437...92,710,311
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G
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Pnpla8
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patatin-like phospholipase domain containing 8
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ISO
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ClinVar Annotator: match by term: PNPLA8-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:67,056,783...67,118,714
Ensembl chr 6:67,056,697...67,120,512
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G
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Msto1
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misato mitochondrial distribution and morphology regulator 1
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ISO
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ClinVar Annotator: match by term: MSTO1-related disorder | ClinVar Annotator: match by term: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
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OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:28492532 PMID:28544275 PMID:28554942 PMID:29339779 PMID:30684668 PMID:31463572 PMID:31604776 PMID:31607746 PMID:33222031 PMID:35598585 PMID:36468072 PMID:36474027 PMID:37431817 More...
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NCBI chr 2:176,603,755...176,608,037
Ensembl chr 2:176,599,671...176,608,026
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G
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Mt-atp6
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mitochondrially encoded ATP synthase membrane subunit 6
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ISO
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ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient
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ClinVar |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584
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G
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Mt-co1
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mitochondrially encoded cytochrome c oxidase I
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ISO
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ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient
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ClinVar |
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,309...6,853
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G
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Mt-co2
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mitochondrially encoded cytochrome c oxidase II
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ISO
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ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT
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ClinVar |
PMID:25741868 |
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NCBI chr MT:7,006...7,689
Ensembl chr MT:6,991...7,674
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G
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Mt-co3
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mitochondrially encoded cytochrome c oxidase III
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ISO
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ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient
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ClinVar |
PMID:12414820 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,584...9,367
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G
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Mt-cyb
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mitochondrially encoded cytochrome b
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ISO
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ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient
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ClinVar |
PMID:8186719 PMID:8910895 PMID:8988236 PMID:10502593 PMID:11464242 PMID:11506394 PMID:11601507 PMID:11782982 PMID:14520667 PMID:23418307 PMID:32906214 More...
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,124...15,266
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G
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Mt-nd1
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
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ISO
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ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient | ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT
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ClinVar |
PMID:25741868 |
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NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685
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G
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Mt-nd2
|
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
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ISO
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ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient
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ClinVar |
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NCBI chr MT:3,904...4,942
Ensembl chr MT:3,892...4,929
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G
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Mt-nd5
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
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ISO
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ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient
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ClinVar |
PMID:20018511 PMID:25741868 PMID:32906214 |
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NCBI chr MT:11,736...13,565
Ensembl chr MT:11,721...13,553
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G
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Trmu
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tRNA mitochondrial 2-thiouridylase
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ISO
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DNA:mutations:multiple
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RGD |
PMID:23625533 |
RGD:21066346 |
NCBI chr 7:118,849,586...118,866,190
Ensembl chr 7:118,849,600...118,867,539
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G
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Gfer
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growth factor, augmenter of liver regeneration
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GFER-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency
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OMIM CTD ClinVar |
PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 PMID:25269795 PMID:25326635 PMID:25741868 PMID:26018198 PMID:26757139 PMID:26944241 PMID:28155230 PMID:28492532 PMID:28812649 PMID:28939701 PMID:34732400 More...
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NCBI chr10:14,223,023...14,225,736
Ensembl chr10:14,223,023...14,225,935
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G
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Ryr1
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ryanodine receptor 1
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ISO
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ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts
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ClinVar |
PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:22851008 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 PMID:30155738 PMID:30236257 PMID:30406384 PMID:30842289 PMID:33646171 PMID:33767344 PMID:35428369 PMID:35599849 More...
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NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305
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G
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Fdx2
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ferredoxin 2
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ISO
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ClinVar Annotator: match by term: FDX2-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 8 | ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
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OMIM ClinVar |
PMID:24281368 PMID:25741868 PMID:28492532 |
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NCBI chr 8:27,881,091...27,886,230
Ensembl chr 8:27,881,091...27,886,015
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G
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Mt-nd3
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
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ISO
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ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
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ClinVar |
PMID:15372108 PMID:17152068 PMID:17413873 PMID:18977334 PMID:19458970 PMID:20818383 PMID:20972245 PMID:24708134 PMID:25741868 PMID:30128709 PMID:30199507 PMID:30776730 PMID:32045392 PMID:39825153 More...
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,436...9,783
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G
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Dnm1l
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dynamin 1-like
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ISO
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ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420
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G
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Pus1
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pseudouridine synthase 1
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ISO ISS
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
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CTD ClinVar MouseDO |
PMID:17056637 PMID:19731322 PMID:25058219 PMID:25741868 PMID:26556812 PMID:28492532 More...
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NCBI chr12:51,539,659...51,548,975
Ensembl chr12:51,540,212...51,548,973
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G
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Yars2
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tyrosyl-tRNA synthetase 2
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
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CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:98,136,530...98,142,320
Ensembl chr11:98,115,386...98,142,668
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G
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Pus1
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pseudouridine synthase 1
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ISO
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ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition
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OMIM ClinVar |
PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 PMID:15971356 PMID:17056637 PMID:17576681 PMID:18648068 PMID:19731322 PMID:23707380 PMID:25058219 PMID:25227147 PMID:25741868 PMID:26556812 PMID:27374853 PMID:28492532 More...
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NCBI chr12:51,539,659...51,548,975
Ensembl chr12:51,540,212...51,548,973
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G
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Dnm1l
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dynamin 1-like
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ISO
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ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420
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G
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Yars2
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tyrosyl-tRNA synthetase 2
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ISO
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ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 | ClinVar Annotator: match by term: YARS2-related condition
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OMIM ClinVar |
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 PMID:24344687 PMID:24430573 PMID:25638461 PMID:25741868 PMID:26633545 PMID:26944241 PMID:28492532 PMID:30026338 PMID:33144682 PMID:35393742 PMID:38703036 More...
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NCBI chr11:98,136,530...98,142,320
Ensembl chr11:98,115,386...98,142,668
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G
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Mt-atp6
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mitochondrially encoded ATP synthase membrane subunit 6
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ISO
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ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3
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ClinVar |
PMID:25037980 PMID:27812026 PMID:29350304 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584
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G
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Mt-atp6
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mitochondrially encoded ATP synthase membrane subunit 6
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ISO
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DNA:missense mutation:cds:m.8993T>G, p.L156R (human) ClinVar Annotator: match by term: NARP syndrome CTD Direct Evidence: marker/mechanism
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ClinVar CTD RGD |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:7668837 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8554662 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9199572 PMID:9221962 PMID:9270604 PMID:9329425 PMID:9501263 PMID:9556461 PMID:9568930 PMID:9631394 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:16217706 PMID:17352390 PMID:17452590 PMID:17663470 PMID:18055910 PMID:18461509 PMID:19124644 PMID:19160410 PMID:19626676 PMID:19667215 PMID:19875463 PMID:20056103 PMID:20301352 PMID:20546952 PMID:21819970 PMID:22577227 PMID:22789932 PMID:22933740 PMID:23206802 PMID:24002810 PMID:24088041 PMID:24153443 PMID:24986921 PMID:25548692 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27129022 PMID:27290639 PMID:27450679 PMID:27783406 PMID:28429146 PMID:29116603 PMID:29228836 PMID:29467576 PMID:29602698 PMID:31181185 PMID:31187502 PMID:31379041 PMID:31461494 PMID:31500933 PMID:32042910 PMID:32042921 PMID:32313153 PMID:32581362 PMID:32652755 PMID:32906214 PMID:33717984 PMID:35159298 PMID:39825153 PMID:11843698 More...
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RGD:13825442 |
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584
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G
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Mt-atp8
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mitochondrially encoded ATP synthase membrane subunit 8
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ISO
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ClinVar Annotator: match by term: NARP syndrome
|
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301352 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32652755 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:7,758...7,961
Ensembl chr MT:7,743...7,946
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G
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Mt-co1
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mitochondrially encoded cytochrome c oxidase I
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ISO
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ClinVar Annotator: match by term: NARP syndrome
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ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301352 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32652755 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,309...6,853
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G
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Mt-co2
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mitochondrially encoded cytochrome c oxidase II
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ISO
|
ClinVar Annotator: match by term: NARP syndrome
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ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301352 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32652755 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:7,006...7,689
Ensembl chr MT:6,991...7,674
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G
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Mt-co3
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mitochondrially encoded cytochrome c oxidase III
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ISO
|
ClinVar Annotator: match by term: NARP syndrome
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ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301352 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32652755 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,584...9,367
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G
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Mt-nd1
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
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ISO
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ClinVar Annotator: match by term: NARP syndrome
|
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301352 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32652755 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685
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G
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Mt-nd2
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
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ISO
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ClinVar Annotator: match by term: NARP syndrome
|
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301352 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32652755 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:3,904...4,942
Ensembl chr MT:3,892...4,929
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G
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Mt-nd3
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
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ISO
|
ClinVar Annotator: match by term: NARP syndrome
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ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301352 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32652755 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,436...9,783
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G
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Mt-nd4
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
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ISO
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ClinVar Annotator: match by term: NARP syndrome
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ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301352 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32652755 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,145...11,522
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G
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Mt-nd4l
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
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ISO
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ClinVar Annotator: match by term: NARP syndrome
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ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301352 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32652755 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:9,870...10,166
Ensembl chr MT:9,855...10,151
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G
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Mt-nd5
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
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ISO
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ClinVar Annotator: match by term: NARP syndrome
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ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301352 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27015314 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32652755 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:11,736...13,565
Ensembl chr MT:11,721...13,553
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G
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Polg
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DNA polymerase gamma, catalytic subunit
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
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CTD ClinVar |
PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 PMID:16177225 PMID:17426723 PMID:17980715 PMID:18500570 PMID:18828154 PMID:19307547 PMID:19478085 PMID:20301791 PMID:20513108 PMID:20818383 PMID:21228000 PMID:21670405 PMID:21880868 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22616202 PMID:23448099 PMID:24272679 PMID:25585994 PMID:25741868 PMID:26467025 PMID:28471437 PMID:28480171 PMID:28492532 PMID:30451971 PMID:33486010 PMID:34782754 More...
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NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838
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G
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Twnk
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twinkle mtDNA helicase
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ISO
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ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
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ClinVar |
PMID:12707443 PMID:12872260 PMID:18575922 PMID:18973250 PMID:19084593 PMID:20659899 PMID:24086434 PMID:25741868 PMID:28492532 PMID:28812649 PMID:30496414 More...
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NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162
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