|
G |
Atp5f1d |
ATP synthase F1 subunit delta |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:29478781 |
|
NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
|
|
G |
Cadm1 |
cell adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
|
NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
|
|
G |
Camk2a |
calcium/calmodulin-dependent protein kinase II alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
|
NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
|
|
G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
|
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
|
|
G |
Coq8a |
coenzyme Q8A |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25131622 PMID:25741868 PMID:28492532 PMID:32337771 PMID:32685350 |
|
NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
|
|
G |
Dguok |
deoxyguanosine kinase |
susceptibility |
ISO |
mitochondrial DNA depletion syndrome, hepatocerebral form, OMIM:251880;DNA:deletion: :204delA |
RGD |
PMID:11687800 |
RGD:1601052 |
NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
|
|
G |
Dnm1l |
dynamin 1-like |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
|
|
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
|
|
G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
|
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
|
|
G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: mitochondrial disorder |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
|
|
G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20818383 |
|
NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
|
|
G |
Gfer |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:28812649 |
|
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
|
|
G |
Gfm2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:28492532 PMID:29075935 |
|
NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197
|
|
G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
|
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
|
|
G |
Hadhb |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
|
ISO |
Mitochondrial trifunctional protein deficiency, OMIM:609015 |
RGD |
PMID:8651282 |
RGD:1600779 |
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
|
|
G |
Map1lc3b |
microtubule-associated protein 1 light chain 3 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
|
NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
|
|
G |
Mccc2 |
methylcrotonyl-CoA carboxylase subunit 2 |
|
ISO |
DNA:missense mutations, frameshift mutations:multiple (human) |
RGD |
PMID:11170888 |
RGD:2316864 |
NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972
|
|
G |
Mgme1 |
mitochondrial genome maintenance exonuclease 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23313956 |
|
NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
|
|
G |
Mpv17 |
mitochondrial inner membrane protein MPV17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18818194 |
|
NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
|
|
G |
Mrpl39 |
mitochondrial ribosomal protein L39 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
|
|
NCBI chr11:23,779,655...23,795,146
Ensembl chr11:23,779,662...23,795,125
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8554662 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:11119722 PMID:11245730 PMID:11371515 PMID:11382202 PMID:11730668 PMID:11731285 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:14998933 PMID:16049925 PMID:16217706 PMID:17352390 PMID:17452590 PMID:17663470 PMID:18055910 PMID:18461509 PMID:19160410 PMID:19454486 PMID:19667215 PMID:20301382 PMID:22789932 PMID:22933740 PMID:23206802 PMID:24002810 PMID:24088041 PMID:24104924 PMID:24118886 PMID:24316278 PMID:24986921 PMID:25489354 PMID:25741868 PMID:26633545 PMID:28027978 PMID:31181185 PMID:32313153 PMID:32461654 PMID:32581362 PMID:32906214 More...
|
|
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:20301382 |
|
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
|
|
G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
|
|
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
|
|
G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
|
|
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
|
|
G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder |
ClinVar |
PMID:12414820 PMID:20301382 |
|
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
|
|
G |
Mt-cyb |
mitochondrially encoded cytochrome b |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
|
|
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder |
ClinVar |
PMID:15466014 PMID:15505787 PMID:16969869 PMID:17562939 PMID:20301353 PMID:24830958 PMID:25741868 PMID:30143805 More...
|
|
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
|
|
G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
|
|
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
|
|
G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 PMID:20301382 PMID:25741868 More...
|
|
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
|
|
G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:20301382 PMID:25741868 |
|
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
|
|
G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:20301382 |
|
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
|
|
G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:9299505 PMID:10589546 PMID:12624137 PMID:12736867 PMID:14520659 PMID:14730434 PMID:16306525 PMID:17400793 PMID:18332249 PMID:20301382 PMID:25741868 PMID:27164671 More...
|
|
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
|
|
G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:7654063 PMID:8016139 PMID:8622678 PMID:10894222 PMID:14735585 PMID:16380132 PMID:20301353 PMID:25741868 PMID:30143805 More...
|
|
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
|
|
G |
Ndufa6 |
NADH:ubiquinone oxidoreductase subunit A6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:30245030 |
|
NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
|
|
G |
Ndufaf8 |
NADH:ubiquinone oxidoreductase complex assembly factor 8 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:31866046 |
|
NCBI chr10:105,381,491...105,383,643
|
|
G |
Ndufb7 |
NADH:ubiquinone oxidoreductase subunit B7 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes |
ClinVar |
PMID:25741868 PMID:33502047 |
|
NCBI chr19:24,568,241...24,572,579
Ensembl chr19:24,568,241...24,572,579
|
|
G |
Ndufc2 |
NADH:ubiquinone oxidoreductase subunit C2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:32969598 |
|
NCBI chr 1:151,711,965...151,718,188
Ensembl chr 1:151,711,901...151,718,189
|
|
G |
Nol3 |
nucleolar protein 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19139834 |
|
NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16157314 |
|
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
|
|
G |
Nubpl |
NUBP iron-sulfur cluster assembly factor like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20818383 |
|
NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
|
|
G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:12566046 PMID:14644237 PMID:14961560 PMID:15505825 PMID:15531309 PMID:16158427 PMID:16240368 PMID:16513463 PMID:18065439 PMID:18158317 PMID:18222991 PMID:19029523 PMID:19319978 PMID:20157015 PMID:20185555 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22433900 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25564500 PMID:25641387 PMID:25741868 PMID:26385429 PMID:26467025 PMID:28378518 PMID:28492532 PMID:28812649 PMID:28926202 PMID:30293569 PMID:31609081 PMID:31673222 PMID:33546218 More...
|
|
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
|
|
G |
Oxa1l |
OXA1L, mitochondrial inner membrane protein |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:30201738 |
|
NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder |
CTD ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2725645 PMID:7847370 PMID:9500334 PMID:9536098 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12210792 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12975295 PMID:14467368 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15913923 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:16940310 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17310215 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17576681 PMID:17725985 PMID:17894835 PMID:17950645 PMID:17980715 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:19275594 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21276947 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21647632 PMID:21686371 PMID:21696159 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22342071 PMID:22470557 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23324391 PMID:23430834 PMID:23448099 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23836942 PMID:24033266 PMID:24122062 PMID:24265579 PMID:24272679 PMID:24398692 PMID:24508722 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25462018 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25940035 PMID:26077851 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27422324 PMID:27538604 PMID:27822509 PMID:27838477 PMID:27987238 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28430993 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28812649 PMID:28837072 PMID:28865037 PMID:29272804 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29920680 PMID:30021052 PMID:30167885 PMID:30306720 PMID:30369941 PMID:30423451 PMID:30487145 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:31147703 PMID:31164858 PMID:31475037 PMID:31589614 PMID:31645654 PMID:31980526 PMID:31996268 PMID:33469851 PMID:33473333 PMID:33726816 PMID:34008892 PMID:34782754 More...
|
|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
G |
Rmnd1 |
required for meiotic nuclear division 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:23022098 PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 PMID:26395190 PMID:27159321 PMID:27350610 PMID:27412952 PMID:27843092 PMID:28492532 PMID:31506229 PMID:31568715 PMID:32576985 More...
|
|
NCBI chr 1:40,859,829...40,894,390
Ensembl chr 1:40,859,829...40,894,314
|
|
G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21646632 PMID:23107649 PMID:24741716 PMID:25741868 PMID:28492532 PMID:28812649 PMID:32313153 More...
|
|
NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
|
|
G |
Sco1 |
synthesis of cytochrome C oxidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17182746 |
|
NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
|
|
G |
Slc25a4 |
solute carrier family 25 member 4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar RGD |
PMID:27693233 PMID:10220377 |
RGD:1581261 |
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9917329 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Tmem126b |
transmembrane protein 126B |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:27374773 PMID:27374774 PMID:28492532 PMID:29093663 |
|
NCBI chr 1:144,437,142...144,451,508
Ensembl chr 1:144,437,145...144,451,435
|
|
G |
Top3a |
DNA topoisomerase III alpha |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:29290614 |
|
NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
|
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
|
|
G |
Trmt10c |
tRNA methyltransferase 10C, mitochondrial RNase P subunit |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:27132592 |
|
NCBI chr11:44,584,388...44,589,466
Ensembl chr11:44,584,113...44,589,568
|
|
G |
Twnk |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:11431692 PMID:12872260 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28812649 More...
|
|
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
|
|
G |
Uqcrfs1 |
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
|
|
G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:28812649 |
|
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
|
|
|
G |
Hmgcs2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
OMIM ClinVar |
PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 PMID:12072887 PMID:12647205 PMID:16199547 PMID:17576681 PMID:20346956 PMID:23751782 PMID:25511235 PMID:25741868 PMID:28492532 PMID:29597274 PMID:31910233 PMID:32259399 PMID:33045405 More...
|
|
NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
|
|
G |
Phgdh |
phosphoglycerate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
ClinVar |
|
|
NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944
|
|
|
G |
Serac1 |
serine active site containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:32313153 More...
|
|
NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
|
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Ataxia and polyneuropathy, adult-onset |
ClinVar |
PMID:3612192 PMID:8190310 PMID:8395787 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9568930 PMID:9762610 PMID:11916326 PMID:16049925 PMID:18055910 PMID:25741868 PMID:32906214 More...
|
|
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
|
G |
Aqp4 |
aquaporin 4 |
|
ISO |
|
RGD |
PMID:20680636 |
RGD:5148026 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
|
|
G |
Edar |
ectodysplasin-A receptor |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
|
|
G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18546365 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:23430898 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
|
|
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
susceptibility |
ISO IAGP |
DNA:mutations:cds: 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:8884268 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: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:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID: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:23430898 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: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: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:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29644085 PMID:29655203 PMID:29712893 PMID:29915382 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:30487145 PMID:30609409 PMID:30637288 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30951992 PMID:31147703 PMID:31164858 PMID:31475037 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:31996268 PMID:32019516 PMID:32234506 PMID:32347949 PMID:32348839 PMID:32502631 PMID:32703289 PMID:33469851 PMID:33473333 PMID:33726816 PMID:34008892 PMID:34194468 PMID:34782754 PMID:35307828 PMID:15689359 PMID:20142534 PMID:16896309 PMID:22237560 More...
|
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
|
|
G |
Ranbp2 |
RAN binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:2392416 PMID:11301032 PMID:18546365 PMID:21447491 PMID:23430898 PMID:25429852 PMID:28492532 More...
|
|
NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
|
|
|
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:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
|
|
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
|
|
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:9536098 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID: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:17576681 PMID:17725985 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22470557 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID: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:24725338 PMID:25118206 PMID:25193669 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27422324 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28901595 PMID:29029963 PMID:29190809 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29992832 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30843307 PMID:30936349 PMID:31147703 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32234506 PMID:33473333 PMID:33726816 PMID:34008892 PMID:34782754 More...
|
|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
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
|
|
|
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...
|
|
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
|
|
|
G |
Twnk |
twinkle mtDNA helicase |
|
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:15668446 PMID:17614277 PMID:19353676 PMID:19513767 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:28812649 PMID:29458409 PMID:31271879 More...
|
|
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
|
|
|
G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
ClinVar |
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28078310 PMID:28492532 PMID:29625556 More...
|
|
NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
|
|
G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
OMIM ClinVar |
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28078310 PMID:28492532 PMID:29625556 More...
|
|
NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
|
|
|
G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
OMIM ClinVar |
PMID:19664747 PMID:21646632 PMID:24741716 PMID:26467025 PMID:28492532 PMID:28812649 More...
|
|
NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
|
|
|
G |
Dna2 |
DNA replication helicase/nuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy |
OMIM ClinVar |
PMID:23352259 PMID:25741868 PMID:28492532 |
|
NCBI chr20:25,661,652...25,690,598
Ensembl chr20:25,662,055...25,716,319
|
|
|
G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
|
|
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 |
OMIM ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:9536098 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:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17576681 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID: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: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: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: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:29482223 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:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32234506 PMID:33473333 PMID:33726816 PMID:34008892 PMID:34782754 More...
|
|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
|
G |
Rnaseh1 |
ribonuclease H1 |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
OMIM ClinVar |
PMID:25741868 PMID:26094573 PMID:28492532 |
|
NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236
|
|
|
G |
Tk2 |
thymidine kinase 2 |
|
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...
|
|
NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
|
|
|
G |
Dguok |
deoxyguanosine kinase |
|
ISO |
ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 4 | 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:30956829 PMID:31664448 More...
|
|
NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
|
|
|
G |
Top3a |
DNA topoisomerase III alpha |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29290614 |
|
NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
|
|
|
G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:24033266 PMID:24172246 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:27959697 PMID:28322498 PMID:28492532 PMID:30582773 PMID:30634555 PMID:31435670 More...
|
|
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
|
|
|
G |
Cps1 |
carbamoyl-phosphate synthase 1 |
|
ISO |
CPS I deficiency, OMIM:237300, DNA:splice-site mutation CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital hyperammonemia, type I |
OMIM CTD ClinVar RGD |
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11474210 PMID:12655559 PMID:12955727 PMID:15050969 PMID:15164414 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16737834 PMID:17310273 PMID:17357079 PMID:17576681 PMID:18414213 PMID:18666241 PMID:19167850 PMID:19309799 PMID:19793055 PMID:20578160 PMID:20800523 PMID:20855223 PMID:21068339 PMID:21108709 PMID:21120950 PMID:22173106 PMID:22494545 PMID:22575620 PMID:23649895 PMID:24813853 PMID:25640679 PMID:25741868 PMID:26059772 PMID:26440671 PMID:26592762 PMID:27150549 PMID:27290639 PMID:27436290 PMID:28007335 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:29888426 PMID:30285816 PMID:31392117 PMID:31435610 PMID:31507628 PMID:31749211 PMID:32154057 PMID:32280145 PMID:33309754 PMID:33489762 PMID:33551825 PMID:33851512 PMID:33924653 PMID:34298581 PMID:8486760 More...
|
RGD:1600715 |
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
|
|
|
G |
Cpt2 |
carnitine palmitoyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal |
OMIM ClinVar |
PMID:736528 PMID:835844 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10607472 PMID:10862092 PMID:10873395 PMID:11257506 PMID:11855939 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15622536 PMID:15642848 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16225172 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18925671 PMID:19762733 PMID:20301431 PMID:20810031 PMID:20934285 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22652984 PMID:22854105 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:26477380 PMID:27067077 PMID:27123472 PMID:27525900 PMID:27629963 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:29478820 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30609409 PMID:33123633 PMID:33532864 PMID:34063237 More...
|
|
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
|
|
|
G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
|
|
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:9536098 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:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17576681 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 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: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:29482223 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:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32234506 PMID:33473333 PMID:33726816 PMID:34008892 PMID:34782754 More...
|
|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Childhood myocerebrohepatopathy spectrum |
ClinVar |
PMID:12707443 PMID:16621917 PMID:19752458 PMID:20185557 PMID:21305355 PMID:21880868 PMID:22189570 PMID:23208208 PMID:24265579 PMID:25741868 PMID:28471437 PMID:28492532 PMID:30167885 More...
|
|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
|
|
G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
|
NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
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...
|
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
|
|
G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
|
NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
|
|
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:28492532 |
|
NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
|
|
G |
Slc25a4 |
solute carrier family 25 member 4 |
|
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
|
|
G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 |
|
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 PMID:14680979 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
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...
|
RGD:1600544 |
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
|
|
|
G |
Aptx |
aprataxin |
|
ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 |
|
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
|
|
G |
Coq2 |
coenzyme Q2, polyprenyltransferase |
|
ISO |
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
ClinVar |
PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:23758206 PMID:24988567 PMID:25525159 PMID:25741868 PMID:27493029 PMID:28492532 PMID:29127259 PMID:29637272 PMID:29869118 PMID:30295827 More...
|
|
NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
|
|
G |
Coq8a |
coenzyme Q8A |
|
ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
|
|
G |
Coq9 |
coenzyme Q9 |
|
ISS ISO |
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
MouseDO ClinVar |
|
|
NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
|
|
G |
Pdss1 |
decaprenyl diphosphate synthase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730
|
|
G |
Pdss2 |
decaprenyl diphosphate synthase subunit 2 |
|
ISS ISO |
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
MouseDO ClinVar |
|
|
NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
|
|
|
G |
Aars2 |
alanyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090
|
|
G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 |
|
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
|
|
G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
|
|
G |
Gfm1 |
G elongation factor, mitochondrial 1 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:21119709 PMID:25741868 PMID:28216230 PMID:28492532 PMID:31683770 |
|
NCBI chr 2:151,700,573...151,745,477
Ensembl chr 2:151,700,564...151,745,471
|
|
G |
Gga2 |
golgi associated, gamma adaptin ear containing, ARF binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
|
|
NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:176,552,046...176,585,361
|
|
G |
Mrps16 |
mitochondrial ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
|
|
NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656
|
|
G |
Mrps22 |
mitochondrial ribosomal protein S22 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
|
|
G |
Mto1 |
mitochondrial tRNA translation optimization 1 |
|
ISS |
OMIM:300816 | OMIM:609060 | OMIM:610498 | OMIM:610505 | OMIM:610678 | OMIM:611719 | OMIM:613559 | OMIM:614096 | OMIM:614582 | OMIM:614702 | OMIM:614922 | OMIM:614924 | OMIM:614932 | OMIM:614946 | OMIM:614947 | OMIM:615395 | OMIM:615440 | OMIM:615578 | OMIM:615595 | OMIM:615917 | OMIM:615918 | OMIM:616045 | OMIM:616198 | OMIM:616239 |
MouseDO |
|
|
NCBI chr 8:79,309,681...79,335,231
Ensembl chr 8:79,309,982...79,335,231
|
|
G |
Mtrfr |
mitochondrial translation release factor in rescue |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
|
|
NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
|
|
G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
|
|
G |
Rab33a |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 |
|
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
|
|
G |
Tsfm |
Ts translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
|
|
NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
|
|
G |
Tufm |
Tu translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
|
NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
|
|
|
G |
Gfm1 |
G elongation factor, mitochondrial 1 |
|
ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
OMIM ClinVar |
PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 PMID:21119709 PMID:21986555 PMID:22277967 PMID:24033266 PMID:25741868 PMID:25852744 PMID:28216230 PMID:28492532 PMID:31680380 PMID:32313153 More...
|
|
NCBI chr 2:151,700,573...151,745,477
Ensembl chr 2:151,700,564...151,745,471
|
|
G |
Gfm2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
|
ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
ClinVar |
PMID:28492532 PMID:29075935 |
|
NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197
|
|
G |
Mrpl44 |
mitochondrial ribosomal protein L44 |
|
ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812
|
|
G |
Mrps22 |
mitochondrial ribosomal protein S22 |
|
ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
|
|
G |
Nars2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:151,300,446...151,412,069
Ensembl chr 1:151,300,467...151,413,521
|
|
G |
Vars2 |
valyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994
|
|
|
G |
Mto1 |
mitochondrial tRNA translation optimization 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741868 PMID:25741892 PMID:26061759 PMID:26539891 PMID:27151179 PMID:27256614 PMID:28492532 PMID:29331171 PMID:29440775 PMID:30369941 PMID:33586140 More...
|
|
NCBI chr 8:79,309,681...79,335,231
Ensembl chr 8:79,309,982...79,335,231
|
|
|
G |
Rmnd1 |
required for meiotic nuclear division 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 | ClinVar Annotator: match by term: ENCEPHALONEUROMYOPATHY, INFANTILE, DUE TO MITOCHONDRIAL TRANSLATION DEFECT |
OMIM ClinVar |
PMID:18835491 PMID:23022098 PMID:23022099 PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 PMID:26395190 PMID:27159321 PMID:27350610 PMID:27412952 PMID:27843092 PMID:28492532 PMID:31506229 PMID:31568715 PMID:32576985 More...
|
|
NCBI chr 1:40,859,829...40,894,390
Ensembl chr 1:40,859,829...40,894,314
|
|
|
G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
OMIM ClinVar |
PMID:22492562 PMID:23008233 PMID:25741868 PMID:26780086 PMID:26893310 PMID:27290639 PMID:28492532 PMID:28748214 PMID:28748215 More...
|
|
NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
|
|
G |
Gga2 |
golgi associated, gamma adaptin ear containing, ARF binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:176,552,046...176,585,361
|
|
|
G |
Pnpt1 |
polyribonucleotide nucleotidyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13 |
OMIM ClinVar |
PMID:11080643 PMID:23084291 PMID:24088041 PMID:25326635 PMID:25457163 PMID:25741868 PMID:26633545 PMID:27759031 PMID:28492532 PMID:30046113 PMID:30831263 PMID:31752325 PMID:32313153 PMID:33158637 More...
|
|
NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696
|
|
|
G |
Fars2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22499341 PMID:22833457 PMID:24161539 PMID:25558065 PMID:25640679 PMID:25741868 PMID:25851414 PMID:26553276 PMID:27095821 PMID:27549011 PMID:27652284 PMID:28043061 PMID:28419689 PMID:28492532 PMID:29126765 PMID:30177229 PMID:30250868 PMID:30869852 PMID:31665838 PMID:32007496 More...
|
|
NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
|
|
G |
Lyrm4 |
LYR motif containing 4 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 |
ClinVar |
PMID:22833457 PMID:24161539 PMID:25741868 PMID:28492532 PMID:32007496 |
|
NCBI chr17:28,746,442...28,861,849
Ensembl chr17:28,746,469...28,861,750
|
|
|
G |
Mtfmt |
mitochondrial methionyl-tRNA formyltransferase |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15 |
OMIM ClinVar |
PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 More...
|
|
NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
|
|
|
G |
Mrpl44 |
mitochondrial ribosomal protein L44 |
|
ISO |
ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |
OMIM ClinVar |
PMID:23315540 PMID:25326637 PMID:25741868 PMID:25797485 PMID:26001801 PMID:26968897 PMID:28492532 PMID:33726816 PMID:34140213 More...
|
|
NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812
|
|
|
G |
Elac2 |
elaC ribonuclease Z 2 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 |
OMIM ClinVar |
PMID:9536098 PMID:10986046 PMID:11175785 PMID:11507049 PMID:11522646 PMID:12515253 PMID:12522685 PMID:15863270 PMID:16199547 PMID:17576681 PMID:23849775 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27312126 PMID:27769300 PMID:28492532 PMID:31045291 More...
|
|
NCBI chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614
|
|
|
G |
Sfxn4 |
sideroflexin 4 |
|
ISO |
ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
OMIM ClinVar |
PMID:24119684 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:259,976,480...259,998,778
Ensembl chr 1:259,976,481...259,998,754
|
|
|
G |
Fars2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
|
|
G |
Lyrm4 |
LYR motif containing 4 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 |
OMIM ClinVar |
PMID:23814038 PMID:25741868 PMID:28492532 |
|
NCBI chr17:28,746,442...28,861,849
Ensembl chr17:28,746,469...28,861,750
|
|
|
G |
Mrps16 |
mitochondrial ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 |
OMIM ClinVar |
PMID:15505824 |
|
NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656
|
|
|
G |
Vars2 |
valyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 |
OMIM ClinVar |
PMID:12345 PMID:16199547 PMID:24827421 PMID:25058219 PMID:25741868 PMID:27502409 PMID:28492532 PMID:29313548 PMID:29314548 PMID:31064326 More...
|
|
NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994
|
|
|
G |
Tars2 |
threonyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 |
OMIM ClinVar |
PMID:24827421 PMID:25741868 PMID:28492532 PMID:33153448 |
|
NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184
|
|
|
G |
Atp5f1a |
ATP synthase F1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 |
OMIM ClinVar |
PMID:23596069 PMID:25741868 |
|
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
|
|
|
G |
Gtpbp3 |
GTP binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 |
OMIM ClinVar |
PMID:25434004 PMID:25741868 PMID:28492532 PMID:33619562 |
|
NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857
|
|
|
G |
Nars2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 |
OMIM ClinVar |
PMID:22237560 PMID:25385316 PMID:25629079 PMID:25741868 PMID:25807530 PMID:26467025 PMID:28077841 PMID:28492532 PMID:30327238 PMID:34374940 More...
|
|
NCBI chr 1:151,300,446...151,412,069
Ensembl chr 1:151,300,467...151,413,521
|
|
|
G |
Mars2 |
methionyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 |
OMIM ClinVar |
PMID:25741868 PMID:25754315 |
|
NCBI chr 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820
|
|
|
G |
Trmt5 |
tRNA methyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 |
OMIM ClinVar |
PMID:2544623 PMID:25741868 PMID:26189817 PMID:28492532 |
|
NCBI chr 6:91,963,558...91,987,660
Ensembl chr 6:91,943,724...91,987,555
|
|
|
G |
Ankrd10 |
ankyrin repeat domain 10 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:77,866,489...77,889,745
Ensembl chr16:77,864,261...77,889,745
|
|
G |
Arhgef7 |
Rho guanine nucleotide exchange factor 7 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:77,671,021...77,782,593
Ensembl chr16:77,671,023...77,782,697
|
|
G |
Cars2 |
cysteinyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25361775 PMID:25741868 PMID:25787132 PMID:28492532 PMID:30139652 More...
|
|
NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
|
|
G |
Col4a1 |
collagen type IV alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
|
|
G |
Col4a2 |
collagen type IV alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
|
|
G |
Ing1 |
inhibitor of growth family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
|
|
G |
Naxd |
NAD(P)HX dehydratase |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
|
|
G |
Rab20 |
RAB20, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:78,019,337...78,043,529
Ensembl chr16:78,019,337...78,043,529
|
|
|
G |
Slc25a26 |
solute carrier family 25 member 26 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 |
OMIM ClinVar |
PMID:25741868 PMID:26522469 PMID:28492532 |
|
NCBI chr 4:127,036,704...127,131,022
Ensembl chr 4:127,036,742...127,131,020
|
|
|
G |
Txn2 |
thioredoxin 2 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 |
OMIM ClinVar |
PMID:25741868 PMID:26626369 |
|
NCBI chr 7:109,496,772...109,510,378
Ensembl chr 7:109,496,761...109,510,359
|
|
|
G |
Avil |
advillin |
|
ISO |
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
|
|
G |
Tsfm |
Ts translation elongation factor, mitochondrial |
|
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 More...
|
|
NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
|
|
|
G |
Trmt10c |
tRNA methyltransferase 10C, mitochondrial RNase P subunit |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 |
ClinVar OMIM |
PMID:27132592 |
|
NCBI chr11:44,584,388...44,589,466
Ensembl chr11:44,584,113...44,589,568
|
|
|
G |
Mipep |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:27799064 PMID:28492532 |
|
NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727
|
|
|
G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28777931 |
|
NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
|
|
G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 |
OMIM ClinVar |
PMID:2877793 PMID:25741868 PMID:28492532 PMID:28777931 |
|
NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
|
|
|
G |
C1qbp |
complement C1q binding protein |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 33 |
ClinVar OMIM |
PMID:28942965 |
|
NCBI chr10:55,699,954...55,704,605
Ensembl chr10:55,699,954...55,704,649
|
|
|
G |
Gga3 |
golgi associated, gamma adaptin ear containing, ARF binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:100,825,426...100,844,462
Ensembl chr10:100,825,426...100,844,462
|
|
G |
Mrps7 |
mitochondrial ribosomal protein S7 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 |
OMIM ClinVar |
PMID:9063420 PMID:25556185 PMID:25741868 PMID:28492532 |
|
NCBI chr10:100,843,691...100,846,838
Ensembl chr10:100,843,356...100,847,129
|
|
|
G |
Trit1 |
tRNA isopentenyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35 | ClinVar Annotator: match by term: TRIT1 Deficiency |
OMIM ClinVar |
PMID:24901367 PMID:25741868 PMID:26381753 PMID:28185376 PMID:28492532 |
|
NCBI chr 5:135,293,472...135,341,522
Ensembl chr 5:135,295,330...135,338,764
|
|
|
G |
Mrps2 |
mitochondrial ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29576219 |
|
NCBI chr 3:11,801,310...11,806,341
Ensembl chr 3:11,801,310...11,806,313
|
|
|
G |
Micos13 |
mitochondrial contact site and cristae organizing system subunit 13 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 37 | ClinVar Annotator: match by term: Mitochondrial hepato-encephalopathy |
OMIM ClinVar |
PMID:27485409 PMID:27623147 PMID:29618761 |
|
NCBI chr 9:1,439,058...1,442,092
Ensembl chr 9:1,439,058...1,442,076
|
|
|
G |
Mrps14 |
mitochondrial ribosomal protein S14 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 |
ClinVar OMIM |
PMID:30358850 |
|
NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915
|
|
|
G |
Gfm2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39 |
OMIM ClinVar |
PMID:22700954 PMID:25741868 PMID:26016410 PMID:28492532 PMID:29075935 |
|
NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197
|
|
|
G |
Tufm |
Tu translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4 |
OMIM ClinVar |
PMID:17160893 PMID:25741868 PMID:26741492 PMID:28492532 |
|
NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
|
|
|
G |
Qrsl1 |
glutaminyl-tRNA amidotransferase subunit QRSL1 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 |
OMIM ClinVar |
PMID:25741868 PMID:26741492 PMID:28492532 PMID:29440775 PMID:30283131 |
|
NCBI chr20:47,357,211...47,382,135
Ensembl chr20:47,357,216...47,382,135
|
|
|
G |
Gatb |
glutamyl-tRNA amidotransferase subunit B |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 |
OMIM ClinVar |
PMID:25741868 PMID:30283131 |
|
NCBI chr 2:170,930,536...171,017,062
Ensembl chr 2:170,930,542...171,016,695
|
|
|
G |
Gatc |
glutamyl-tRNA amidotransferase subunit C |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 42 |
ClinVar OMIM |
PMID:30283131 |
|
NCBI chr12:41,270,096...41,278,067
Ensembl chr12:41,270,087...41,277,995
|
|
|
G |
Timm22 |
translocase of inner mitochondrial membrane 22 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 43 |
OMIM ClinVar |
PMID:22638997 PMID:25741868 PMID:30452684 |
|
NCBI chr10:61,253,459...61,261,217
Ensembl chr10:61,253,450...61,261,755
|
|
|
G |
Fastkd2 |
FAST kinase domains 2 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 |
OMIM ClinVar |
PMID:18771761 PMID:25741868 PMID:28492532 PMID:28499982 PMID:31944455 |
|
NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
|
|
|
G |
Mrpl12 |
mitochondrial ribosomal protein L12 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 45 |
ClinVar OMIM |
PMID:23603806 |
|
NCBI chr10:105,758,410...105,762,913
Ensembl chr10:105,758,410...105,762,913
|
|
|
G |
Mrps23 |
mitochondrial ribosomal protein S23 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 46 |
ClinVar OMIM |
PMID:26741492 |
|
NCBI chr10:72,999,033...73,006,791
Ensembl chr10:72,998,497...73,006,264
|
|
|
G |
Mrps28 |
mitochondrial ribosomal protein S28 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 47 |
ClinVar OMIM |
PMID:30566640 |
|
NCBI chr 2:92,855,557...92,858,805
Ensembl chr 2:92,820,606...92,951,284
|
|
|
G |
Nsun3 |
NOP2/Sun RNA methyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 48 |
OMIM ClinVar |
PMID:27356879 PMID:32671698 |
|
NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
|
|
|
G |
Mief2 |
mitochondrial elongation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 49 |
OMIM ClinVar |
PMID:29361167 |
|
NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
|
|
|
G |
Mrps22 |
mitochondrial ribosomal protein S22 |
|
ISO |
ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia |
OMIM ClinVar |
PMID:17873122 PMID:21189481 PMID:25663021 PMID:25741868 PMID:28492532 PMID:29096039 PMID:31683770 More...
|
|
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
|
|
|
G |
Mrps25 |
mitochondrial ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 50 |
OMIM ClinVar |
PMID:31039582 |
|
NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057
|
|
|
G |
Ptcd3 |
Pentatricopeptide repeat domain 3 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 51 |
ClinVar OMIM |
PMID:30607703 |
|
NCBI chr 4:103,922,440...103,957,445
Ensembl chr 4:103,920,566...103,957,538
|
|
|
G |
Nfs1 |
NFS1 cysteine desulfurase |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 |
ClinVar OMIM |
PMID:24498631 PMID:33457206 |
|
NCBI chr 3:144,637,309...144,659,660
Ensembl chr 3:144,637,309...144,659,666
|
|
|
G |
RGD1306941 |
similar to CG31122-PA |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 |
OMIM ClinVar |
PMID:25741868 PMID:33945503 PMID:34038740 |
|
NCBI chr 9:58,949,821...58,958,456
Ensembl chr 9:58,949,846...58,958,561
|
|
|
G |
Prorp |
protein only RNase P catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 54 |
OMIM ClinVar |
|
|
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
|
|
|
G |
Polrmt |
RNA polymerase mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 |
OMIM ClinVar |
PMID:25741868 PMID:33602924 |
|
NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
|
|
|
G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
OMIM ClinVar |
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
|
|
G |
Rab33a |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
ClinVar |
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
|
|
|
G |
Mphosph9 |
M-phase phosphoprotein 9 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
|
|
NCBI chr12:32,275,449...32,346,097
Ensembl chr12:32,275,558...32,342,392
|
|
G |
Mtrfr |
mitochondrial translation release factor in rescue |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
OMIM ClinVar |
PMID:20598281 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25326635 PMID:25741868 PMID:26539891 PMID:27858754 PMID:28492532 PMID:32581362 More...
|
|
NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
|
|
|
G |
Aars2 |
alanyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 |
OMIM ClinVar |
PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 PMID:27749956 PMID:27839525 PMID:28492532 PMID:29440775 PMID:29749055 PMID:30054184 More...
|
|
NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090
|
|
G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 |
ClinVar |
PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 PMID:27749956 PMID:27839525 PMID:28492532 PMID:29440775 PMID:29749055 PMID:30054184 More...
|
|
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
|
|
G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy |
ClinVar |
PMID:26008905 |
|
NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
|
|
|
G |
Mrpl3 |
mitochondrial ribosomal protein L3 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 |
OMIM ClinVar |
PMID:21786366 PMID:25741868 PMID:27815843 PMID:28492532 |
|
NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544
|
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Cowden-like syndrome |
ClinVar |
PMID:15930273 PMID:17376864 PMID:18829572 PMID:19366826 PMID:21824802 PMID:22120714 PMID:22228622 PMID:22729224 PMID:22949682 PMID:24033266 PMID:24497998 PMID:24728327 PMID:25157968 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26351730 PMID:26619011 PMID:27631024 PMID:28151489 PMID:28492532 PMID:28502725 PMID:28941273 PMID:30231930 PMID:31568861 PMID:32595695 PMID:33077954 More...
|
|
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Cowden-like syndrome |
ClinVar |
PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:10920277 PMID:10923032 PMID:11504908 PMID:11685670 PMID:14518070 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16952599 PMID:17392703 PMID:17526800 PMID:17873882 PMID:17941496 PMID:18558293 PMID:18725974 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20301661 PMID:20453058 PMID:20600018 PMID:20619739 PMID:20881644 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22281088 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22520842 PMID:22595938 PMID:23335809 PMID:23349303 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23886400 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:26376867 PMID:26773036 PMID:27426521 PMID:27477328 PMID:27959697 PMID:28286253 PMID:28492532 PMID:28526761 PMID:29663862 PMID:30287823 PMID:30614812 PMID:32238909 PMID:33077954 PMID:33600059 More...
|
|
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
|
|
G |
Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
|
ISO |
ClinVar Annotator: match by term: Cowden-like syndrome |
ClinVar |
PMID:11404820 PMID:14985401 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16912137 PMID:17102082 PMID:17102083 PMID:17298551 PMID:17376234 PMID:17639058 PMID:17987308 PMID:18551016 PMID:18678321 PMID:19368708 PMID:19399650 PMID:19454582 PMID:19802898 PMID:21979946 PMID:22517554 PMID:22703879 PMID:22995991 PMID:23072324 PMID:23666964 PMID:24033266 PMID:24728327 PMID:25333069 PMID:25694510 PMID:25741868 PMID:26092435 PMID:27604842 PMID:28492532 More...
|
|
NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
|
|
|
G |
Coa3 |
cytochrome C oxidase assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25604084 |
|
NCBI chr10:86,220,192...86,221,173
Ensembl chr10:86,220,194...86,221,178
|
|
G |
Coa8 |
cytochrome c oxidase assembly factor 8 |
|
ISO |
ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25175347 PMID:25741868 |
|
NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081
|
|
G |
Cox10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
|
ISS ISO |
OMIM:220110 ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
MouseDO ClinVar |
PMID:9536098 PMID:12928484 PMID:17576681 PMID:23814038 PMID:25741868 PMID:28492532 PMID:32313153 More...
|
|
NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
|
|
G |
Cox20 |
cytochrome c oxidase assembly factor COX20 |
|
ISO |
ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30656193 PMID:32827528 More...
|
|
NCBI chr13:90,065,900...90,075,386
|
|
G |
Cox6b1 |
cytochrome c oxidase subunit 6B1 |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:18499082 PMID:24781756 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
|
|
G |
Cox8a |
cytochrome c oxidase subunit 8A |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25741868 PMID:26685157 |
|
NCBI chr 1:204,402,118...204,404,439
|
|
G |
Cutc |
cutC copper transporter |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
|
|
NCBI chr 1:242,622,276...242,637,048
Ensembl chr 1:242,622,276...242,637,047
|
|
G |
Entpd7 |
ectonucleoside triphosphate diphosphohydrolase 7 |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
|
|
NCBI chr 1:242,559,365...242,601,044
Ensembl chr 1:242,559,365...242,601,447
|
|
G |
Fastkd2 |
FAST kinase domains 2 |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:18771761 PMID:25326635 PMID:25497598 PMID:25741868 PMID:25842391 PMID:28492532 More...
|
|
NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
|
|
G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
ISO |
|
RGD |
PMID:12529507 |
RGD:1600676 |
NCBI chr 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293
|
|
G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Cytochrome c oxidase i deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:9832034 PMID:10441567 PMID:12140182 PMID:16284789 |
|
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
|
|
G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:10205264 PMID:10486321 PMID:11471180 PMID:11558799 |
|
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
|
|
G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:8630495 PMID:9634511 PMID:11063732 PMID:12414820 |
|
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
|
|
G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
|
ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 |
|
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
|
|
G |
Pet100 |
PET100 cytochrome c oxidase chaperone |
|
ISO |
ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 |
|
NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
|
|
G |
Sco1 |
synthesis of cytochrome C oxidase 1 |
|
ISS ISO |
OMIM:220110 ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
MouseDO ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
|
NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
|
|
G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
CTD ClinVar |
PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 PMID:10647889 PMID:10746561 PMID:15214016 PMID:21937992 PMID:22488715 PMID:23829769 PMID:24027061 PMID:25741868 PMID:28492532 PMID:28639102 PMID:32445240 More...
|
|
NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
|
|
G |
Taco1 |
translational activator of cytochrome c oxidase I |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
CTD ClinVar |
PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 |
|
NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042
|
|
G |
Tymp |
thymidine phosphorylase |
|
ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:12529715 PMID:23643385 PMID:25741868 PMID:25959673 PMID:26467025 PMID:28492532 More...
|
|
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
|
|
|
G |
Timm8a1 |
translocase of inner mitochondrial membrane 8A1 |
|
ISO |
DNA:mutation:intron:IVS1-23A>C(human) ClinVar Annotator: match by term: Deafness dystonia syndrome CTD Direct Evidence: marker/mechanism DNA:mutation:exon:116delT(Q38fsX64)(human) DNA:deletion:cds:108delG(human) |
ClinVar CTD OMIM RGD |
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17851739 PMID:17936919 PMID:24033266 PMID:25741868 PMID:15710860 PMID:17471106 PMID:11601506 More...
|
RGD:13209130, RGD:13209136, RGD:13209134 |
NCBI chr X:97,717,932...97,721,918
Ensembl chr X:97,717,920...97,721,960
|
|
|
G |
Dguok |
deoxyguanosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26342080 |
|
NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
|
|
G |
Mpv17 |
mitochondrial inner membrane protein MPV17 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form |
ClinVar |
PMID:16582910 PMID:16909392 PMID:17694548 PMID:19520594 PMID:23714749 PMID:23829229 PMID:25016221 PMID:25741868 PMID:26437932 PMID:27536553 PMID:28492532 PMID:28673863 PMID:29282788 PMID:30298599 PMID:31673878 More...
|
|
NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
|
|
G |
Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26342080 |
|
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
|
|
G |
Tfam |
transcription factor A, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form |
ClinVar |
PMID:27448789 |
|
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
|
|
|
G |
Slc25a12 |
solute carrier family 25 member 12 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 |
OMIM ClinVar |
PMID:19641205 PMID:24515575 PMID:24973975 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:56,098,080...56,192,188
Ensembl chr 3:56,097,269...56,192,100
|
|
|
G |
Cep55 |
centrosomal protein 55 |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394
|
|
G |
Dnm1l |
dynamin 1-like |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
OMIM ClinVar |
PMID:17460227 PMID:18414213 PMID:20696759 PMID:25326635 PMID:25741868 PMID:26604000 PMID:26825290 PMID:26931468 PMID:26992161 PMID:27145208 PMID:27328748 PMID:28492532 PMID:29877124 PMID:30801875 PMID:30850373 PMID:31475481 PMID:31587467 More...
|
|
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
|
|
G |
Osbpl7 |
oxysterol binding protein-like 7 |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:82,035,995...82,053,566
Ensembl chr10:82,036,042...82,053,557
|
|
G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
|
|
|
G |
Mff |
mitochondrial fission factor |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
OMIM ClinVar |
PMID:22499341 PMID:25558065 PMID:25741868 PMID:26783368 PMID:32181496 |
|
NCBI chr 9:84,007,798...84,036,039
Ensembl chr 9:84,007,798...84,036,039
|
|
|
G |
Fdx2 |
ferredoxin 2 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849
|
|
|
G |
Ethe1 |
ETHE1, persulfide dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
OMIM ClinVar |
PMID:2777167 PMID:9536098 PMID:14732903 PMID:16183799 PMID:16199547 PMID:16828325 PMID:17576681 PMID:17712735 PMID:18593870 PMID:19136963 PMID:19289697 PMID:20528888 PMID:21472225 PMID:25198162 PMID:25741868 PMID:26194623 PMID:27391121 PMID:27771676 PMID:27830356 PMID:28492532 PMID:28933811 PMID:30298498 PMID:30349987 PMID:30864297 PMID:31477743 PMID:32111695 PMID:32485156 PMID:32860008 More...
|
|
NCBI chr 1:80,184,037...80,199,092
Ensembl chr 1:80,183,894...80,199,052
|
|
|
G |
Dcc |
DCC netrin 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28250456 |
|
NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
|
|
G |
Robo3 |
roundabout guidance receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
|
|
|
G |
Robo3 |
roundabout guidance receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 |
OMIM ClinVar |
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 PMID:19633821 PMID:24969490 PMID:25326635 PMID:25741868 PMID:27318526 PMID:28024310 PMID:28492532 PMID:29215389 PMID:32860008 More...
|
|
NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
|
|
|
G |
Dcc |
DCC netrin 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 |
OMIM ClinVar |
PMID:25741868 PMID:28250456 PMID:28492532 |
|
NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
|
|
|
G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
|
ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency |
ClinVar |
PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 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...
|
|
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
|
|
G |
Tymp |
thymidine phosphorylase |
|
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...
|
|
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
|
|
|
G |
Coa5 |
cytochrome C oxidase assembly factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 9:39,651,459...39,664,870
|
|
G |
Coa6 |
cytochrome c oxidase assembly factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
|
|
G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
|
ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 |
ClinVar |
PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18804471 PMID:18924171 PMID:19879173 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:34426522 PMID:34691145 More...
|
|
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
|
|
G |
Tymp |
thymidine phosphorylase |
|
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: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:34426522 PMID:34691145 More...
|
|
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
|
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 |
OMIM ClinVar |
PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 PMID:17576681 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 PMID:32232962 PMID:33746038 More...
|
|
NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
|
|
|
G |
Coa5 |
cytochrome C oxidase assembly factor 5 |
|
ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |
ClinVar OMIM |
PMID:21457908 |
|
NCBI chr 9:39,651,459...39,664,870
|
|
|
G |
Coa6 |
cytochrome c oxidase assembly factor 6 |
|
ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 |
OMIM ClinVar |
PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 PMID:26160915 PMID:28492532 More...
|
|
NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407
|
|
|
G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
ISO |
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 PMID:18414213 PMID:20200222 PMID:21266382 PMID:21437181 PMID:22494076 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26510951 PMID:26741492 PMID:27408822 PMID:27574110 PMID:28492532 PMID:29152527 More...
|
|
NCBI chr 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293
|
|
G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16326995 |
|
NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
|
|
|
G |
Fxn |
frataxin |
|
ISO |
DNA:point mutation:exon:p.G130V ClinVar Annotator: match by term: Friedreich ataxia CTD Direct Evidence: marker/mechanism DNA:repeat:intron:GAA (human) |
ClinVar CTD RGD |
PMID:8596916 PMID:9150176 PMID:9700204 PMID:9737785 PMID:9989622 PMID:10543403 PMID:10732799 PMID:11020385 PMID:11030757 PMID:11843702 PMID:12019217 PMID:12923074 PMID:16120311 PMID:16239244 PMID:16911956 PMID:17101455 PMID:17331979 PMID:17703324 PMID:18537827 PMID:19494730 PMID:19629184 PMID:20098685 PMID:20162437 PMID:21298097 PMID:22016819 PMID:23418481 PMID:25741868 PMID:26301374 PMID:26339677 PMID:26467025 PMID:26704351 PMID:26954031 PMID:28812047 PMID:29272104 PMID:30451920 PMID:31980526 PMID:10543403 PMID:8596916 More...
|
RGD:1598961, RGD:1582636 |
NCBI chr 1:221,874,007...221,897,841
Ensembl chr 1:221,872,420...221,897,540
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
DNA:missense mutation:cds:m.3696C>T (human) |
RGD |
PMID:18807169 |
RGD:5490251 |
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
|
|
|
G |
Fxn |
frataxin |
|
ISO |
ClinVar Annotator: match by term: Friedreich ataxia 1 |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:34906502 |
|
NCBI chr 1:221,874,007...221,897,841
Ensembl chr 1:221,872,420...221,897,540
|
|
|
G |
Etfa |
electron transfer flavoprotein subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Glutaric acidemia type 2A |
ClinVar |
PMID:16510302 PMID:25741868 PMID:28492532 PMID:29096039 |
|
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
|
|
|
G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28427446 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 More...
|
|
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
|
|
|
G |
Lias |
lipoic acid synthetase |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
OMIM ClinVar |
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26467025 PMID:27923773 PMID:28492532 More...
|
|
NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
|
|
G |
Rpl9 |
ribosomal protein L9 |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136
|
|
G |
Ugdh |
UDP-glucose 6-dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
|
|
|
G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 DNA:mutation:exon: g.1512A>G(p.D29G)(human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:18571143 PMID:24033266 PMID:25741868 PMID:27405012 PMID:28492532 PMID:18571143 More...
|
RGD:12910473 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
|
|
G |
Polr3a |
RNA polymerase III subunit A |
|
ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 |
ClinVar |
PMID:29389947 |
|
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
|
|
|
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
|
|
G |
Ppm1b |
protein phosphatase, Mg2+/Mn2+ dependent, 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
|
NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974
|
|
G |
Prepl |
prolyl endopeptidase-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
|
NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
|
|
G |
Slc3a1 |
solute carrier family 3 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
|
NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
|
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
|
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
|
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
|
|
G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
|
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
|
|
G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
|
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
|
|
G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
|
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
|
|
G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
|
ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
|
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
|
|
G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
|
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
|
RGD |
PMID:23406886 |
RGD:7241824 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
|
|
G |
Tfam |
transcription factor A, mitochondrial |
|
ISS |
OMIM:530000 |
MouseDO |
|
|
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
|
|
|
G |
Cpt2 |
carnitine palmitoyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced |
OMIM ClinVar |
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9562964 PMID:9600456 PMID:10090476 PMID:10398215 PMID:10734268 PMID:10862092 PMID:10873395 PMID:11477613 PMID:11855939 PMID:12410208 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:16168441 PMID:16225172 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18363739 PMID:18550408 PMID:19762733 PMID:20301431 PMID:20661589 PMID:20810031 PMID:21227726 PMID:21913903 PMID:22652984 PMID:22854105 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25919294 PMID:26467025 PMID:26477380 PMID:27067077 PMID:27123472 PMID:27629963 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:29478820 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30609409 PMID:33123633 More...
|
|
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
|
|
|
G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:18061280 |
RGD:5685659 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
|
|
G |
Ephx1 |
epoxide hydrolase 1 |
onset |
ISO |
DNA:missense mutation:cds:p.Y113H (human) |
RGD |
PMID:15838728 |
RGD:5688732 |
NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
|
|
G |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16250670 PMID:17011878 |
|
NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
susceptibility |
ISO |
DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human) ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism DNA:transition:CDS:c.8668T>C, p.W48R (human) |
ClinVar CTD RGD |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7668837 PMID:7726182 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:8554662 PMID:9199572 PMID:9270604 PMID:9329425 PMID:9501263 PMID:9556461 PMID:9631394 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11119722 PMID:11245730 PMID:11371515 PMID:11382202 PMID:11730668 PMID:11731285 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:16217706 PMID:17352390 PMID:17452590 PMID:17663470 PMID:18461509 PMID:19160410 PMID:19454486 PMID:19667215 PMID:20301353 PMID:22789932 PMID:22933740 PMID:23206802 PMID:24002810 PMID:24088041 PMID:25741868 PMID:26633545 PMID:30143805 PMID:31181185 PMID:32313153 PMID:32906214 PMID:19026397 PMID:20454697 More...
|
RGD:5490293, RGD:5508187 |
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Leber's optic atrophy |
ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595 PMID:25741868 More...
|
|
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
|
|
G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leber optic atrophy |
CTD ClinVar |
PMID:7573056 PMID:7804416 PMID:8037217 PMID:8240356 PMID:20301353 PMID:25741868 PMID:30143805 More...
|
|
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
|
|
G |
Mt-cyb |
mitochondrially encoded cytochrome b |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leber optic atrophy |
CTD ClinVar |
PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 PMID:8755941 PMID:20301353 PMID:25741868 PMID:30143805 More...
|
|
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
DNA:snp:cds:m.3635G>A (human) ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.L289M (m.4171C>A) (human) DNA:missense mutation:cds:m.3866T>C (p.I187T) (human) DNA:snps:cds:m.4136A>G, m.4160T>C (human) DNA:snp:cds:m.3394T>C (human) DNA:transition:CDS:c.3460G>A, p.A52T (human) |
ClinVar CTD RGD |
PMID:1417830 PMID:1442494 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:8496715 PMID:11479733 PMID:11854175 PMID:12112111 PMID:15342361 PMID:15466014 PMID:15505787 PMID:15972314 PMID:16738010 PMID:16849371 PMID:16969869 PMID:17562939 PMID:17620555 PMID:18216301 PMID:19497304 PMID:19555656 PMID:20301353 PMID:21364701 PMID:22879922 PMID:24569607 PMID:24830958 PMID:24884847 PMID:25194554 PMID:25741868 PMID:27449621 PMID:29991444 PMID:30143805 PMID:32906214 PMID:11479733 PMID:12112111 PMID:22577081 PMID:2018041 PMID:19324017 PMID:20454697 More...
|
RGD:5508685, RGD:8657118, RGD:8657116, RGD:5508712, RGD:5508689, RGD:5508187 |
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
|
|
G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
DNA:transversion:CDS:c.4852T>A, p.L128Q (human) ClinVar Annotator: match by term: Leber optic atrophy CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1732158 PMID:1900003 PMID:11479733 PMID:20301353 PMID:30143805 PMID:20454697 More...
|
RGD:5508187 |
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
|
|
G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
DNA: mutation ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia |
ClinVar RGD |
PMID:12227465 PMID:17152068 PMID:17413873 PMID:19458970 PMID:20301353 PMID:30143805 PMID:19458970 More...
|
RGD:5508703 |
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
|
|
G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
DNA:mutation:exon:p.R340H(human) ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia CTD Direct Evidence: marker/mechanism DNA:transition:CDS:c.11778G>A (p.R340H) (human) DNA:mutation:exon: 11778G>A DNA:mutation: :m.11696G>A(human) |
ClinVar CTD RGD |
PMID:1346348 PMID:1352537 PMID:1417830 PMID:1469456 PMID:1734726 PMID:1763894 PMID:1770533 PMID:1770665 PMID:1866007 PMID:1900003 PMID:1937476 PMID:1959619 PMID:1959931 PMID:2039048 PMID:2286378 PMID:2346190 PMID:2346203 PMID:2390098 PMID:2566021 PMID:2566116 PMID:2575667 PMID:2817063 PMID:3201231 PMID:8101084 PMID:8240101 PMID:8240102 PMID:8448903 PMID:8449667 PMID:8457609 PMID:8474822 PMID:8489402 PMID:8489411 PMID:8644732 PMID:9150158 PMID:11169561 PMID:11854175 PMID:12402249 PMID:12560876 PMID:12707444 PMID:15342361 PMID:16120329 PMID:16431939 PMID:16477364 PMID:16532388 PMID:18771762 PMID:19026397 PMID:20301353 PMID:24569607 PMID:25741868 PMID:30143805 PMID:3201231 PMID:20454697 PMID:18771762 PMID:19022198 PMID:12436196 PMID:16364244 More...
|
RGD:1581057, RGD:5508187, RGD:5507829, RGD:5491183, RGD:1581059, RGD:1581058 |
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
|
|
G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
|
ISO |
DNA:missense mutation:cds:m.10680G>A (p.A71T) (human) ClinVar Annotator: match by term: Leber optic atrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:m.10663T>C (p.V65A) (human) |
ClinVar CTD RGD |
PMID:8680405 PMID:11935318 PMID:20301353 PMID:30143805 PMID:19394449 PMID:11935318 More...
|
RGD:5686339, RGD:5686341 |
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
|
|
G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Leber optic atrophy CTD Direct Evidence: marker/mechanism DNA:mutation: :m.13708G>A (human) DNA:mutation:exon:13042G>A (A236T) (human) DNA:mutation:exon:p.Y159H(human) DNA:mutation:: m.12338 T>C |
ClinVar CTD RGD |
PMID:1417830 PMID:1732158 PMID:1764087 PMID:1900003 PMID:8213825 PMID:12509858 PMID:12736867 PMID:15767514 PMID:16240359 PMID:16816025 PMID:17400793 PMID:18332249 PMID:20301353 PMID:21131053 PMID:27164671 PMID:30143805 PMID:31669237 PMID:16240359 PMID:1732158 PMID:16816025 PMID:19022198 PMID:21131053 More...
|
RGD:1581060, RGD:5507826, RGD:5491202, RGD:5491183, RGD:5491172 |
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
|
|
G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
DNA:SNP, haplotypes: :m.14484T>C (human) ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia CTD Direct Evidence: marker/mechanism DNA:mutation: :m.13997G>A (p.P25L) (mouse) DNA:missense mutations, haplotypes:cds:multiple DNA:missense mutation:cds:m.14502T>C (p.I58V) (human) |
ClinVar CTD RGD |
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 PMID:8470982 PMID:8622678 PMID:8644732 PMID:8854108 PMID:9012411 PMID:9177303 PMID:9849804 PMID:10072046 PMID:10631164 PMID:10894222 PMID:11133798 PMID:12112086 PMID:12736867 PMID:12827453 PMID:14735585 PMID:15342361 PMID:15922297 PMID:15954041 PMID:16380132 PMID:18674747 PMID:20301353 PMID:24569607 PMID:25741868 PMID:29987491 PMID:30143805 PMID:31669237 PMID:23665487 PMID:23129651 PMID:24398099 PMID:19732751 More...
|
RGD:8657119, RGD:8657127, RGD:8657125, RGD:8657123 |
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
|
|
G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
|
ISO |
ClinVar Annotator: match by term: Leber optic atrophy |
ClinVar |
PMID:25741868 |
|
NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
|
|
G |
Parl |
presenilin associated, rhomboid-like |
no_association |
ISO |
DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) |
RGD |
PMID:20407791 PMID:20711738 |
RGD:12902617, RGD:12902618 |
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
|
|
G |
Prickle3 |
prickle planar cell polarity protein 3 |
|
ISO |
ClinVar Annotator: match by term: Leber optic atrophy CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:32516135 |
|
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
|
|
G |
Rdh12 |
retinol dehydrogenase 12 |
|
ISO |
|
RGD |
PMID:15322982 |
RGD:1599415 |
NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
|
|
G |
Rp1 |
RP1, axonemal microtubule associated |
|
ISO |
ClinVar Annotator: match by term: Leber optic atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16828753 PMID:17011878 |
|
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
|
|
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
|
RGD |
PMID:11283794 |
RGD:1599580 |
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
|
|
G |
Sod2 |
superoxide dismutase 2 |
treatment |
ISO |
|
RGD |
PMID:15293270 PMID:12601034 |
RGD:8158101, RGD:8158104 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Tp53 |
tumor protein p53 |
onset |
ISO |
DNA:polymorphism:cds:p.R72P(human) |
RGD |
PMID:15838728 |
RGD:5688732 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
|
|
|
G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies |
ClinVar |
PMID:17152068 PMID:17413873 PMID:19458970 |
|
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
|
|
|
G |
Prickle3 |
prickle planar cell polarity protein 3 |
|
ISO |
|
OMIM |
|
|
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
|
|
|
G |
Ndufaf5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
|
ISO |
ClinVar Annotator: match by term: Leber plus disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477
|
|
G |
Prickle3 |
prickle planar cell polarity protein 3 |
|
ISS |
|
MouseDO |
|
|
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
|
|
|
G |
Atp5po |
ATP synthase peripheral stalk subunit OSCP |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
|
|
G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:9545407 PMID:12215968 PMID:12910490 PMID:17314340 PMID:17403714 PMID:18771761 PMID:19389488 PMID:19508421 PMID:20472482 PMID:20518024 PMID:22277166 PMID:22991165 PMID:24033266 PMID:24172246 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:28492532 PMID:30582773 More...
|
|
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
|
|
G |
Col6a3 |
collagen type VI alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Leigh's disease |
ClinVar |
|
|
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
|
|
G |
Cox10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23814038 PMID:25741868 PMID:28492532 |
|
NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar RGD |
PMID:15863660 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 PMID:32232962 PMID:33746038 PMID:15235026 More...
|
RGD:1598467 |
NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
|
|
G |
Cutc |
cutC copper transporter |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
|
|
NCBI chr 1:242,622,276...242,637,048
Ensembl chr 1:242,622,276...242,637,047
|
|
G |
Dld |
dihydrolipoamide dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
|
|
G |
Echs1 |
enoyl-CoA hydratase, short chain 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:25125611 PMID:25393721 PMID:26099313 |
|
NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
|
|
G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28777931 |
|
NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
|
|
G |
Entpd7 |
ectonucleoside triphosphate diphosphohydrolase 7 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
|
|
NCBI chr 1:242,559,365...242,601,044
Ensembl chr 1:242,559,365...242,601,447
|
|
G |
Ercc8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
|
|
G |
Fastkd2 |
FAST kinase domains 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:31944455 |
|
NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
|
|
G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:20818383 PMID:22200994 PMID:23757202 PMID:24033266 PMID:25678554 PMID:25741868 PMID:25803036 PMID:28492532 PMID:28654958 PMID:30723688 PMID:30956948 PMID:31065540 PMID:31589614 PMID:33613441 More...
|
|
NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
|
|
G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:12468279 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
|
|
G |
Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25130867 PMID:25741868 PMID:28492532 |
|
NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501
|
|
G |
Lamb1 |
laminin subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
|
|
G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
ISO |
Leigh syndrome French Canadian variant ClinVar Annotator: match by term: Leigh syndrome |
ClinVar RGD |
PMID:28492532 PMID:17050673 PMID:12529507 |
RGD:1600674, RGD:1600676 |
NCBI chr 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293
|
|
G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:2877793 PMID:25741868 PMID:28777931 |
|
NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:7668837 PMID:7726182 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8554662 PMID:8602753 PMID:8630495 PMID:8644724 PMID:8750605 PMID:9199572 PMID:9270604 PMID:9329425 PMID:9501263 PMID:9556461 PMID:9568930 PMID:9631394 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11119722 PMID:11245730 PMID:11371515 PMID:11382202 PMID:11730668 PMID:11731285 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:14697245 PMID:14998933 PMID:15120634 PMID:16049925 PMID:16050984 PMID:16217706 PMID:17123466 PMID:17352390 PMID:17452590 PMID:17663470 PMID:18055910 PMID:18216301 PMID:18461509 PMID:18495510 PMID:18682780 PMID:19160410 PMID:19454486 PMID:19626676 PMID:19667215 PMID:20211276 PMID:20301353 PMID:22110754 PMID:22231385 PMID:22577227 PMID:22789932 PMID:22933740 PMID:23206802 PMID:23266623 PMID:23304069 PMID:24002810 PMID:24088041 PMID:24104924 PMID:24118886 PMID:24316278 PMID:24986921 PMID:25489354 PMID:25741868 PMID:26633545 PMID:26993169 PMID:28027978 PMID:29307858 PMID:30143805 PMID:31181185 PMID:32313153 PMID:32461654 PMID:32581362 PMID:32906214 More...
|
|
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:1757091 PMID:7633428 PMID:9243242 PMID:11062027 PMID:14697245 PMID:17101920 PMID:18682780 PMID:20207608 PMID:24153443 PMID:25741868 PMID:25941154 PMID:26993169 More...
|
|
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
|
|
G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease |
ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:9806551 PMID:9832034 PMID:10577941 PMID:11349229 PMID:12140182 PMID:13298683 PMID:15647368 PMID:16152638 PMID:17659260 PMID:19460299 PMID:20301595 PMID:21419139 PMID:22130971 PMID:22949535 PMID:24498190 PMID:24713204 PMID:25701779 PMID:25741868 PMID:26011537 PMID:26428318 PMID:26467025 PMID:30950284 More...
|
|
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
|
|
G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:11799391 PMID:12612282 PMID:17637808 PMID:18337306 PMID:19398658 PMID:22241583 PMID:24931671 PMID:25741868 PMID:26467025 PMID:32313153 More...
|
|
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
|
|
G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:7496173 PMID:7573056 PMID:7804416 PMID:8037217 PMID:8240356 PMID:11063732 PMID:15823923 PMID:16358358 PMID:17403843 PMID:18587274 PMID:20301353 PMID:23645088 PMID:25741868 PMID:30143805 More...
|
|
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
|
|
G |
Mt-cyb |
mitochondrially encoded cytochrome b |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease |
ClinVar |
PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 PMID:8755941 PMID:9806551 PMID:10329023 PMID:10453733 PMID:10894993 PMID:10960495 PMID:11047755 PMID:11891837 PMID:12150954 PMID:12905068 PMID:13298683 PMID:17003408 PMID:17637808 PMID:19062322 PMID:19555656 PMID:20301353 PMID:22241583 PMID:24667782 PMID:25741868 PMID:26566881 PMID:28027978 PMID:30143805 More...
|
|
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1417830 PMID:1442494 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:8104867 PMID:8496715 PMID:9299504 PMID:9806551 PMID:10519336 PMID:10520236 PMID:10521313 PMID:10704697 PMID:11238687 PMID:11854175 PMID:11938495 PMID:12160969 PMID:12406974 PMID:12610069 PMID:12756609 PMID:13298683 PMID:14681830 PMID:15465027 PMID:15466014 PMID:15896721 PMID:15972314 PMID:15977098 PMID:16050984 PMID:16738010 PMID:16807713 PMID:16828917 PMID:16849371 PMID:16895436 PMID:16949108 PMID:17454741 PMID:17517629 PMID:17535832 PMID:17620555 PMID:17637808 PMID:18216301 PMID:18502698 PMID:18504678 PMID:18691441 PMID:18977334 PMID:20211276 PMID:20301353 PMID:20643099 PMID:20978534 PMID:21129724 PMID:21144833 PMID:21296687 PMID:21364701 PMID:22241583 PMID:22780954 PMID:24063851 PMID:24146900 PMID:24153443 PMID:24986921 PMID:25741868 PMID:26262956 PMID:26428318 PMID:26467025 PMID:27177320 PMID:27343181 PMID:28187756 PMID:28708239 PMID:28821228 PMID:29330893 PMID:30143805 PMID:32906214 More...
|
|
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
|
|
G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:1900003 PMID:11479733 PMID:11820805 PMID:12406974 PMID:15286228 PMID:16738010 PMID:18682780 PMID:19370763 PMID:20301353 PMID:25741868 PMID:28187756 PMID:29481798 PMID:30143805 More...
|
|
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
|
|
G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
DNA:mutation ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar RGD |
PMID:6343397 PMID:11456298 PMID:12227465 PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 PMID:17066297 PMID:17152068 PMID:17413873 PMID:17535832 PMID:19458970 PMID:20301353 PMID:25118196 PMID:25741868 PMID:30143805 PMID:14705112 More...
|
RGD:5507824 |
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
|
|
G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease |
ClinVar |
PMID:1323207 PMID:1469456 PMID:3395302 PMID:8213827 PMID:8644732 PMID:12707444 PMID:14581685 PMID:15972314 PMID:16120329 PMID:17022785 PMID:20301353 PMID:25741868 PMID:28027978 PMID:30143805 More...
|
|
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
|
|
G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:19394449 PMID:20643099 PMID:29444077 |
|
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
|
|
G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
DNA:mutation: exon:m.13513 G>A (D393N)(human) ClinVar Annotator: match by term: Leigh syndrome |
ClinVar RGD |
PMID:1417830 PMID:1732158 PMID:1764087 PMID:1900003 PMID:9299505 PMID:10589546 PMID:11102991 PMID:11198278 PMID:11938446 PMID:12624137 PMID:14520659 PMID:14730434 PMID:15521990 PMID:16306525 PMID:17003408 PMID:17264866 PMID:17317336 PMID:17400793 PMID:17535832 PMID:17940288 PMID:18246027 PMID:18332249 PMID:18524835 PMID:18977334 PMID:20301353 PMID:21131053 PMID:22780954 PMID:23463613 PMID:25701779 PMID:25741868 PMID:27422531 PMID:29987491 PMID:30143805 PMID:18495510 More...
|
RGD:5491185 |
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
|
|
G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
DNA:missense mutation: :m.14487T>C (p.M63V) (human) ClinVar Annotator: match by term: Leigh syndrome |
ClinVar RGD |
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 PMID:8470982 PMID:8622678 PMID:8854108 PMID:9012411 PMID:9177303 PMID:9849804 PMID:10072046 PMID:10631164 PMID:10894222 PMID:11241853 PMID:11781695 PMID:12205655 PMID:12736867 PMID:12827453 PMID:14520668 PMID:14595656 PMID:14735585 PMID:15637703 PMID:15922297 PMID:15954041 PMID:16337195 PMID:16380132 PMID:18524835 PMID:18674747 PMID:19555656 PMID:20301353 PMID:21457906 PMID:21504270 PMID:21838605 PMID:24088041 PMID:25741868 PMID:26633545 PMID:29987491 PMID:30143805 |