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G |
Adck2 |
aarF domain containing kinase 2 |
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ISS |
OMIM:251900 |
MouseDO |
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NCBI chr 4:68,348,853...68,362,725
Ensembl chr 4:68,348,864...68,374,608
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G |
Camkmt |
calmodulin-lysine N-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
|
NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
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G |
Cox10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
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ISS |
OMIM:251900 |
MouseDO |
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|
NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
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G |
Dna2 |
DNA replication helicase/nuclease 2 |
|
ISO |
DNA:mutations:cds: |
RGD |
PMID:23352259 |
RGD:10401079 |
NCBI chr20:25,661,652...25,690,598
Ensembl chr20:25,662,055...25,716,319
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|
G |
Eya1 |
EYA transcriptional coactivator and phosphatase 1 |
|
ISO |
mRNA:increased expression:muscle: |
RGD |
PMID:23107834 |
RGD:8694159 |
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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G |
Fdx2 |
ferredoxin 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial Myopathies |
OMIM ClinVar |
PMID:24281368 PMID:25741868 PMID:28492532 PMID:30010796 |
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NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial Myopathies |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28430790 PMID:28492532 PMID:32442335 More...
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NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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G |
Mt-cyb |
mitochondrially encoded cytochrome b |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial Myopathies |
ClinVar |
PMID:28027978 |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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G |
Pus1 |
pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial Myopathies |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17486094 PMID:19138848 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Slc25a4 |
solute carrier family 25 member 4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial Myopathies |
ClinVar RGD |
PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 PMID:16155110 More...
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RGD:1580619 |
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Slc25a42 |
solute carrier family 25, member 42 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial Myopathies |
ClinVar |
PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576 |
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NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025
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G |
Tk2 |
thymidine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial Myopathies |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29783828 PMID:33013660 |
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NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Vdac1 |
voltage-dependent anion channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8726225 |
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NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640
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G |
Aqp4 |
aquaporin 4 |
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ISO |
|
RGD |
PMID:20680636 |
RGD:5148026 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G |
Edar |
ectodysplasin-A receptor |
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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 chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
susceptibility |
ISO IAGP |
DNA:mutations:cds: ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | 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: |
ClinVar CTD OMIM RGD |
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 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:16715201 PMID:16857757 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: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:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID: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:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID: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:22114710 PMID:22166854 PMID:22189570 PMID:22215559 PMID:22237560 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:22863191 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23836942 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24086434 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24194468 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 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:25741868 PMID:25742477 PMID:25771874 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26050231 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:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 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:28771251 PMID:28776642 PMID:28812649 PMID:28815208 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29920680 PMID:29950568 PMID:29992832 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30818899 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31147703 PMID:31164858 PMID:31475037 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31762033 PMID:31980526 PMID:31996268 PMID:32019516 PMID:32042919 PMID:32234506 PMID:32347949 PMID:32348839 PMID:32445240 PMID:32502631 PMID:32504279 PMID:32567010 PMID:32600829 PMID:32703289 PMID:33233646 PMID:33258288 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33600046 PMID:33726816 PMID:33791913 PMID:34008892 PMID:34194468 PMID:34690748 PMID:34782754 PMID:35307828 PMID:15689359 PMID:20142534 PMID:16896309 PMID:22237560 More...
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RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 |
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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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...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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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 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
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G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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|
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
OMIM ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2725645 PMID:7847370 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:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17310215 PMID:17418573 PMID:17420318 PMID:17426723 PMID:17438011 PMID:17452231 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:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 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:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 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:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25850945 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:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27822509 PMID:27838477 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:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28901595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29920680 PMID:29992832 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30843307 PMID:30860128 PMID:30936349 PMID:31085725 PMID:31147703 PMID:31164858 PMID:31475037 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32042919 PMID:32234506 PMID:32445240 PMID:32567010 PMID:33233646 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33600046 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Twnk |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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|
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G |
Slc25a4 |
solute carrier family 25 member 4 |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
OMIM ClinVar |
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:26467025 PMID:27693233 PMID:28492532 More...
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NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
OMIM ClinVar |
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12872260 PMID:15668446 PMID:17614277 PMID:18575922 PMID:19353676 PMID:19513767 PMID:20301746 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25133958 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:28812649 PMID:29458409 PMID:31271879 PMID:34409151 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
ClinVar |
PMID:16685652 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 More...
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NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
OMIM ClinVar |
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 More...
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NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
OMIM ClinVar |
PMID:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:24741716 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 More...
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Clcn1 |
chloride voltage-gated channel 1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 |
ClinVar |
PMID:7874130 PMID:8533761 PMID:10690989 PMID:16770776 PMID:17654559 PMID:17932099 PMID:18337730 PMID:21221019 PMID:21698652 PMID:22094069 PMID:22109722 PMID:22407275 PMID:22521272 PMID:22641783 PMID:23113340 PMID:23739125 PMID:23933576 PMID:24037712 PMID:24088041 PMID:24304580 PMID:24349310 PMID:24452722 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26510092 PMID:26633545 PMID:27199537 PMID:27266866 PMID:27614575 PMID:28492532 PMID:28993909 PMID:32117024 PMID:32670189 PMID:34106991 More...
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NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
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G |
Fanci |
FA complementation group I |
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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:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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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:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID:22334187 PMID:22342071 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID: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:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25914719 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29588995 PMID:29655203 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30843307 PMID:30860128 PMID:30936349 PMID:31085725 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31762033 PMID:31980526 PMID:32042919 PMID:32234506 PMID:32445240 PMID:32567010 PMID:33233646 PMID:33473333 PMID:33486010 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Rnaseh1 |
ribonuclease H1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
OMIM ClinVar |
PMID:25741868 PMID:26094573 PMID:28492532 |
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NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236
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G |
Tk2 |
thymidine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 |
OMIM ClinVar |
PMID:12655576 PMID:12682338 PMID:15907288 PMID:18819985 PMID:19265691 PMID:21937588 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29602790 More...
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NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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G |
Dguok |
deoxyguanosine kinase |
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ISO |
ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
OMIM ClinVar |
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 PMID:23043144 PMID:25741868 PMID:26874653 PMID:28492532 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30956829 PMID:31664448 More...
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NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
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G |
Top3a |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29290614 |
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NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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G |
Clcn1 |
chloride voltage-gated channel 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:7874130 PMID:8533761 PMID:10690989 PMID:16770776 PMID:17654559 PMID:17932099 PMID:18337730 PMID:21221019 PMID:21698652 PMID:22094069 PMID:22109722 PMID:22407275 PMID:22521272 PMID:22641783 PMID:23113340 PMID:23739125 PMID:23933576 PMID:24037712 PMID:24088041 PMID:24304580 PMID:24349310 PMID:24452722 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26510092 PMID:26633545 PMID:27199537 PMID:27266866 PMID:27614575 PMID:28492532 PMID:28993909 PMID:32117024 PMID:32670189 PMID:34106991 More...
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NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
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:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
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:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29588995 PMID:29655203 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30843307 PMID:30936349 PMID:31085725 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32042919 PMID:32234506 PMID:32445240 PMID:32567010 PMID:33233646 PMID:33473333 PMID:33486010 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
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NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) CTD Direct Evidence: marker/mechanism DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) DNA:mutations:cds: DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human) |
CTD RGD |
PMID:17923349 PMID:11431686 PMID:17420318 PMID:16401742 PMID:12565911 PMID:12975295 More...
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RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 |
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
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NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21646632 PMID:21951382 PMID:24741716 PMID:25741868 PMID:28492532 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Slc25a4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar RGD |
PMID:12565915 PMID:15792871 |
RGD:1580622, RGD:1580620 |
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 PMID:14680979 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Twnk |
twinkle mtDNA helicase |
susceptibility |
ISO |
DNA:mutations ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar RGD |
PMID: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:11431692 More...
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RGD:1600544 |
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Avil |
advillin |
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ISO |
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Tsfm |
Ts translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
OMIM ClinVar |
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25741868 PMID:28492532 PMID:29261183 PMID:31267352 PMID:33816677 More...
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
OMIM ClinVar |
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 More...
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
ClinVar |
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 More...
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NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:31,949,863...31,979,777
Ensembl chr12:31,822,733...32,007,069
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Cdk2ap1 |
cyclin-dependent kinase 2 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,249,783...32,258,483
Ensembl chr12:32,249,747...32,258,479
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Ddx55 |
DEAD-box helicase 55 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,034,462...32,050,218
Ensembl chr12:32,034,462...32,050,219
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Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
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Gtf2h3 |
general transcription factor IIH subunit 3 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,009,010...32,025,484
Ensembl chr12:32,009,014...32,025,497
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Kmt5a |
lysine methyltransferase 5A |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,139,353...32,167,777
Ensembl chr12:32,139,178...32,162,711
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Mphosph9 |
M-phase phosphoprotein 9 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
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NCBI chr12:32,275,449...32,346,097
Ensembl chr12:32,275,558...32,342,392
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Mtrfr |
mitochondrial translation release factor in rescue |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
OMIM ClinVar |
PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25326635 PMID:25741868 PMID:26539891 PMID:27858754 PMID:28091420 PMID:28492532 PMID:30369941 PMID:31753091 PMID:32581362 PMID:34732400 More...
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NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
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Rilpl1 |
Rab interacting lysosomal protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,071,870...32,109,687
Ensembl chr12:32,071,693...32,109,938
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Rilpl2 |
Rab interacting lysosomal protein-like 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,125,908...32,137,426
Ensembl chr12:32,125,886...32,137,418
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Sbno1 |
strawberry notch homolog 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,175,176...32,234,200
Ensembl chr12:32,185,485...32,230,158
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Snrnp35 |
small nuclear ribonucleoprotein U11/U12 subunit 35 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,112,032...32,119,829
Ensembl chr12:32,110,993...32,122,660
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Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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Tmed2 |
transmembrane p24 trafficking protein 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,052,542...32,061,596
Ensembl chr12:32,052,543...32,071,903
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Fdx2 |
ferredoxin 2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849
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Dcc |
DCC netrin 1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28250456 |
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NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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Robo3 |
roundabout guidance receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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Robo3 |
roundabout guidance receptor 3 |
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ISO |
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 |
OMIM ClinVar |
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 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 More...
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NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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Dcc |
DCC netrin 1 receptor |
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ISO |
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 |
OMIM ClinVar |
PMID:25741868 PMID:28250456 PMID:28492532 |
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NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency |
ClinVar |
PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18924171 PMID:19879173 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25741868 PMID:27290639 PMID:28492532 PMID:28798025 PMID:29193756 PMID:29351582 PMID:31589614 PMID:31623504 PMID:32668698 PMID:33098801 PMID:34426522 PMID:34691145 More...
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NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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Tymp |
thymidine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency |
ClinVar |
PMID:10545952 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18924171 PMID:19879173 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25741868 PMID:26467025 PMID:27290639 PMID:28492532 PMID:28798025 PMID:29193756 PMID:29351582 PMID:31589614 PMID:31623504 PMID:32668698 PMID:33098801 PMID:34426522 PMID:34691145 More...
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Coa5 |
cytochrome C oxidase assembly factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:39,651,459...39,664,870
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Coa6 |
cytochrome c oxidase assembly factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407
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Cox15 |
cytochrome c oxidase assembly homolog COX15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
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Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 |
ClinVar |
PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18804471 PMID:18924171 PMID:19879173 PMID:20159436 PMID:23345593 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25741868 PMID:25959673 PMID:27290639 PMID:28492532 PMID:28798025 PMID:29193756 PMID:29351582 PMID:30593977 PMID:31589614 PMID:31623504 PMID:32668698 PMID:33098801 PMID:33171185 PMID:34426522 PMID:34691145 More...
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NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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Tymp |
thymidine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 |
ClinVar |
PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18804471 PMID:18924171 PMID:19879173 PMID:20159436 PMID:23345593 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25741868 PMID:25959673 PMID:26467025 PMID:27290639 PMID:28492532 PMID:28798025 PMID:29193756 PMID:29351582 PMID:30593977 PMID:31589614 PMID:31623504 PMID:32668698 PMID:33098801 PMID:33171185 PMID:34426522 PMID:34691145 More...
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Cox15 |
cytochrome c oxidase assembly homolog COX15 |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
OMIM ClinVar |
PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 PMID:17576681 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 PMID:32232962 PMID:33746038 More...
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NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
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Coa5 |
cytochrome C oxidase assembly factor 5 |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |
ClinVar OMIM |
PMID:21457908 |
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NCBI chr 9:39,651,459...39,664,870
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Coa6 |
cytochrome c oxidase assembly factor 6 |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 |
OMIM ClinVar |
PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 PMID:26160915 PMID:28492532 More...
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NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407
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Lias |
lipoic acid synthetase |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
OMIM ClinVar |
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26108146 PMID:26467025 PMID:27923773 PMID:28492532 More...
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NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
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Rpl9 |
ribosomal protein L9 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136
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Ugdh |
UDP-glucose 6-dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
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Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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Ppargc1a |
PPARG coactivator 1 alpha |
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ISO |
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RGD |
PMID:23406886 |
RGD:7241824 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Tfam |
transcription factor A, mitochondrial |
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ISS |
OMIM:530000 |
MouseDO |
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NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke |
ClinVar |
PMID:25037980 PMID:27812026 PMID:29350304 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes |
CTD ClinVar |
PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 PMID:8572257 PMID:9450881 PMID:9742104 PMID:11069477 PMID:11175301 PMID:20301595 PMID:31965079 More...
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
DNA:mutation:exon:m.9957T>C (F251L)(human) ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:25741868 PMID:18587274 |
RGD:5491184 |
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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Mt-cyb |
mitochondrially encoded cytochrome b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
DNA:snps:cds:m.3697G>A, m.3946G>A, m.3949T>C (human) ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:15466014 PMID:15972314 PMID:16849371 PMID:16969869 PMID:17535832 PMID:17562939 PMID:18504678 PMID:18590963 PMID:18977334 PMID:20301353 PMID:21364701 PMID:24830958 PMID:25741868 PMID:30143805 PMID:32906214 PMID:15466014 More...
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RGD:5490235 |
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke |
ClinVar |
PMID:1323207 PMID:3395302 PMID:8213827 |
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
DNA:mutations:exons:p. D393N, M237T (human) ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes CTD Direct Evidence: marker/mechanism DNA:mutation:exon:m.13513G>A (D393N)(human) DNA:mutation:exon:m.13849A>C (N505H)(human) |
ClinVar CTD RGD |
PMID:9299505 PMID:10589546 PMID:12509858 PMID:12624137 PMID:12796552 PMID:14520659 PMID:14730434 PMID:15767514 PMID:16306525 PMID:16816025 PMID:17400793 PMID:18332249 PMID:18977334 PMID:20018511 PMID:22249460 PMID:22577219 PMID:25741868 PMID:26894521 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:11,736...13,565
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Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke |
CTD ClinVar |
PMID:11781695 |
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G |
Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
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ISO |
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke |
ClinVar |
PMID:22499341 |
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NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: MERRF syndrome |
ClinVar |
PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 |
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NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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G |
Jph1 |
junctophilin 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:2,030,227...2,137,171
Ensembl chr 5:2,030,281...2,125,284
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G |
Ly96 |
lymphocyte antigen 96 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 |
ClinVar |
PMID:21147908 PMID:28492532 |
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NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
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G |
Tmem70 |
transmembrane protein 70 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18953340 PMID:20335238 PMID:20920610 PMID:20937241 PMID:21147908 PMID:21815885 PMID:22433607 PMID:24033266 PMID:24485043 PMID:25326274 PMID:25741868 PMID:25825456 PMID:26467025 PMID:26550569 PMID:28492532 PMID:30950220 More...
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NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
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G |
Mgme1 |
mitochondrial genome maintenance exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11 |
OMIM ClinVar |
PMID:23313956 PMID:25741868 PMID:28097321 PMID:28492532 PMID:28711739 |
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NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
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G |
Clcnkb |
chloride voltage-gated channel Kb |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant |
ClinVar |
PMID:21415153 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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G |
Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant |
ClinVar |
PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 More...
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Slc25a4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant |
OMIM ClinVar |
PMID:25741868 PMID:27693233 |
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NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Slc25a4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive |
OMIM ClinVar |
PMID:7609449 PMID:8479824 PMID:16155110 PMID:21549803 PMID:22187496 PMID:22497660 PMID:25732997 PMID:25741868 PMID:27693233 PMID:28492532 More...
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NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Fbxl4 |
F-box and leucine-rich repeat protein 4 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) |
OMIM ClinVar |
PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25868664 PMID:26633545 PMID:27099744 PMID:27182039 PMID:27182309 PMID:27290639 PMID:27743463 PMID:27858371 PMID:28492532 PMID:28940506 PMID:30771478 PMID:30804983 PMID:31474762 PMID:32348839 PMID:32576985 More...
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NCBI chr 5:35,955,801...36,029,446
Ensembl chr 5:35,955,812...36,029,443
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G |
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) |
OMIM ClinVar |
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:18222991 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25641387 PMID:25741868 PMID:26206283 PMID:26385429 PMID:26467025 PMID:28492532 PMID:28812649 PMID:33546218 More...
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NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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G |
Tfam |
transcription factor A, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) |
ClinVar OMIM |
PMID:27448789 |
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NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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G |
Itm2b |
integral membrane protein 2B |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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G |
Lpar6 |
lysophosphatidic acid receptor 6 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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G |
Med4 |
mediator complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
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G |
Nudt15 |
nudix hydrolase 15 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr15:48,707,776...48,747,363
Ensembl chr15:48,709,700...48,747,363
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
ClinVar |
PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
OMIM ClinVar |
PMID:8099255 PMID:9536098 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17287286 PMID:17301081 PMID:17576681 PMID:20301762 PMID:20843780 PMID:23759946 PMID:24033266 PMID:24659738 PMID:25741868 PMID:26467025 PMID:26475597 PMID:27913098 PMID:28492532 PMID:28575107 PMID:29568217 PMID:32404165 More...
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NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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G |
Pitrm1 |
pitrilysin metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia |
ClinVar |
PMID:29764912 |
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NCBI chr17:63,795,670...63,827,313
Ensembl chr17:63,795,671...63,839,907
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: mitochondrial hepatopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: mitochondrial hepatopathy |
OMIM ClinVar |
PMID:11431692 PMID:12872260 PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 PMID:20479361 PMID:20659899 PMID:21689831 PMID:22353293 PMID:22928142 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:27650058 PMID:28492532 PMID:28812649 PMID:29458409 PMID:31055809 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency |
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:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION |
ClinVar |
PMID:23643385 PMID:25741868 PMID:28492532 |
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NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency |
ClinVar |
PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16638794 PMID:16639411 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20818383 PMID:20837861 PMID:20843780 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22863191 PMID:22931735 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27119776 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30423451 PMID:30487145 PMID:30936349 PMID:31085725 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32042919 PMID:32234506 PMID:32445240 PMID:32567010 PMID:33233646 PMID:33473333 PMID:33486010 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease |
OMIM ClinVar |
PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 PMID:17576681 PMID:19125351 PMID:19138848 PMID:19664747 PMID:19667227 PMID:21378381 PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27290639 PMID:28492532 PMID:28639102 PMID:28812649 PMID:30439532 PMID:31462754 PMID:32313153 PMID:33300680 More...
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Tymp |
thymidine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency |
ClinVar |
PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 PMID:14720311 PMID:14757860 PMID:15781193 PMID:16178026 PMID:16199547 PMID:16995425 PMID:17576681 PMID:19056268 PMID:19344718 PMID:19853446 PMID:20151198 PMID:20232099 PMID:20301358 PMID:23341816 PMID:23430799 PMID:23643385 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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G |
Coq7 |
coenzyme Q7, hydroxylase |
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ISO |
protein:decreased expression:heart (mouse) |
RGD |
PMID:23255162 |
RGD:10402107 |
NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158
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G |
Dnm1l |
dynamin 1-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17460227 |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Fars2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy |
ClinVar |
PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30177229 PMID:30869852 More...
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NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
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G |
Fbxl4 |
F-box and leucine-rich repeat protein 4 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy |
ClinVar |
PMID:23993194 PMID:25558065 PMID:25741868 PMID:25868664 PMID:27743463 PMID:28492532 PMID:28940506 PMID:30804983 More...
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NCBI chr 5:35,955,801...36,029,446
Ensembl chr 5:35,955,812...36,029,443
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20858599 |
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NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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Mff |
mitochondrial fission factor |
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ISO |
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy |
ClinVar |
PMID:22499341 PMID:25558065 |
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NCBI chr 9:84,007,798...84,036,039
Ensembl chr 9:84,007,798...84,036,039
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G |
Mt-cyb |
mitochondrially encoded cytochrome b |
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ISO |
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy |
ClinVar |
PMID:11047755 |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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Mtrfr |
mitochondrial translation release factor in rescue |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20598281 |
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NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
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G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14729820 |
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NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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G |
Ndufv2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14729820 |
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NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
DNA:mutations:cds:p.N846S, p.P587L(human) |
RGD |
PMID:12825077 |
RGD:8694177 |
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Slirp |
SRA stem-loop interacting RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy |
ClinVar |
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NCBI chr 6:107,088,760...107,097,791
Ensembl chr 6:107,088,403...107,097,791
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G |
Tmem70 |
transmembrane protein 70 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18953340 |
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NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
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G |
Tymp |
thymidine phosphorylase |
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ISO |
mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome,OMIM:603041;DNA:point mutation:exon:E289A |
RGD |
PMID:9924029 |
RGD:1601000 |
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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ISO |
DNA:mutations: :m. 10191T>C, 10158T>C(human) |
RGD |
PMID:14705112 |
RGD:5507824 |
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial encephalopathy |
ClinVar |
PMID:25741868 PMID:30190335 |
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NCBI chr 1:83,574,872...83,582,769
Ensembl chr 1:83,556,757...83,582,793
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Pnpla8 |
patatin-like phospholipase domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis |
OMIM ClinVar |
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:34782754 |
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NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734
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Msto1 |
misato mitochondrial distribution and morphology regulator 1 |
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ISO |
ClinVar Annotator: match by term: MSTO1-related disorder | ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA |
OMIM ClinVar |
PMID:25741868 PMID:28544275 PMID:28554942 PMID:29339779 PMID:30684668 PMID:31463572 PMID:31607746 PMID:33222031 More...
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NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216
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Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient |
ClinVar |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient |
ClinVar |
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT |
ClinVar |
PMID:25741868 |
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NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient |
ClinVar |
PMID:12414820 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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Mt-cyb |
mitochondrially encoded cytochrome b |
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ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient |
ClinVar |
PMID:8186719 PMID:8910895 PMID:8988236 PMID:10502593 PMID:11464242 PMID:11506394 PMID:11601507 PMID:11782982 PMID:14520667 More...
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient | ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT |
ClinVar |
PMID:25741868 |
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NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient |
ClinVar |
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NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient |
ClinVar |
PMID:20018511 PMID:25741868 |
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NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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G |
Chchd10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant |
OMIM ClinVar |
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:26152333 PMID:26224640 PMID:27066538 PMID:27810918 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29540477 PMID:29789341 PMID:30014597 PMID:31690696 PMID:33749723 PMID:35700042 More...
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NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
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RGD1564162 |
similar to Homo sapiens fetal lung specific expression unknown |
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ISO |
ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,721,738...12,725,864
Ensembl chr20:12,723,160...12,726,059
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G |
Trmu |
tRNA mitochondrial 2-thiouridylase |
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ISO |
DNA:mutations:multiple |
RGD |
PMID:23625533 |
RGD:21066346 |
NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355
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Gfer |
growth factor, augmenter of liver regeneration |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
OMIM ClinVar |
PMID:8627443 PMID:18414213 PMID:19409522 PMID:20593814 PMID:25269795 PMID:25326635 PMID:25741868 PMID:26018198 PMID:26757139 PMID:28155230 PMID:28812649 PMID:28939701 More...
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NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts |
ClinVar |
PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 PMID:30155738 PMID:30236257 PMID:30406384 PMID:30842289 PMID:33646171 More...
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Dnm1l |
dynamin 1-like |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Pus1 |
pseudouridine synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia |
CTD ClinVar |
PMID:28492532 |
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NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
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ISO |
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 |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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G |
Pus1 |
pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 |
OMIM ClinVar |
PMID:7726239 PMID:14981724 PMID:15108122 PMID:15772074 PMID:15971356 PMID:17056637 PMID:18648068 PMID:19731322 PMID:23707380 PMID:25058219 PMID:25227147 PMID:25741868 PMID:26556812 PMID:28492532 More...
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NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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G |
Dnm1l |
dynamin 1-like |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 |
OMIM ClinVar |
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 PMID:24344687 PMID:24430573 PMID:25638461 PMID:25741868 PMID:26633545 PMID:28492532 PMID:30026338 More...
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NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 |
ClinVar |
PMID:25037980 PMID:27812026 PMID:29350304 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
DNA:missense mutation:cds:m.8993T>G, p.L156R (human) ClinVar Annotator: match by term: NARP syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9199572 PMID:9329425 PMID:9556461 PMID:9568930 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:14998933 PMID:16049925 PMID:17452590 PMID:18055910 PMID:19124644 PMID:19667215 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27129022 PMID:32313153 PMID:32906214 PMID:11843698 More...
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RGD:13825442 |
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic |
CTD ClinVar |
PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 PMID:16177225 PMID:17426723 PMID:17980715 PMID:18500570 PMID:18828154 PMID:19307547 PMID:19478085 PMID:20301791 PMID:20513108 PMID:20818383 PMID:21228000 PMID:21670405 PMID:21880868 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22616202 PMID:23448099 PMID:24272679 PMID:25585994 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic |
ClinVar |
PMID:12872260 PMID:25741868 PMID:28812649 |
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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