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G |
Atp5f1d |
ATP synthase F1 subunit delta |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:29478781 |
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NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
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G |
Cadm1 |
cell adhesion molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
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NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
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G |
Camk2a |
calcium/calmodulin-dependent protein kinase II alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
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NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
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G |
Casp8 |
caspase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
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NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25131622 PMID:25741868 PMID:28492532 PMID:32337771 PMID:32685350 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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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
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G |
Dnm1l |
dynamin 1-like |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Esr1 |
estrogen receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
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NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: mitochondrial disorder |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20818383 |
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NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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G |
Gfer |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:28812649 |
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NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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G |
Gfm2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:28492532 PMID:29075935 |
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NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
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NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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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
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G |
Map1lc3b |
microtubule-associated protein 1 light chain 3 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
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NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
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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
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G |
Mecr |
mitochondrial trans-2-enoyl-CoA reductase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 PMID:31070877 PMID:31160820 PMID:32445240 PMID:34052969 More...
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NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863
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G |
Mgme1 |
mitochondrial genome maintenance exonuclease 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23313956 |
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NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
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G |
Mpv17 |
mitochondrial inner membrane protein MPV17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18818194 |
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NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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G |
Mrpl39 |
mitochondrial ribosomal protein L39 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
|
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NCBI chr11:23,779,655...23,795,146
Ensembl chr11:23,779,662...23,795,125
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:7668837 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8554662 PMID:8602753 PMID:8644724 PMID:8739943 PMID:8750605 PMID:9199572 PMID:9221962 PMID:9270604 PMID:9329425 PMID:9501263 PMID:9556461 PMID:9568930 PMID:9631394 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11119722 PMID:11245730 PMID:11371515 PMID:11382202 PMID:11730668 PMID:11731285 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:12915481 PMID:14998933 PMID:15120634 PMID:16049925 PMID:16217706 PMID:17352390 PMID:17452590 PMID:17663470 PMID:18055910 PMID:18461509 PMID:19160410 PMID:19188198 PMID:19454486 PMID:19626676 PMID:19667215 PMID:19875463 PMID:20056103 PMID:20301382 PMID:22577227 PMID:22789932 PMID:22933740 PMID:23206802 PMID:24002810 PMID:24088041 PMID:24104924 PMID:24118886 PMID:24316278 PMID:24986921 PMID:25037980 PMID:25489354 PMID:25741868 PMID:26633545 PMID:26803244 PMID:27450679 PMID:27812026 PMID:28027978 PMID:29350304 PMID:29602698 PMID:31181185 PMID:31187502 PMID:31379041 PMID:31461494 PMID:32042921 PMID:32313153 PMID:32461654 PMID:32581362 PMID:32906214 PMID:35159298 More...
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:19188198 PMID:20301382 PMID:26803244 |
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NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder |
ClinVar |
PMID:127819 PMID:1322638 PMID:1634041 PMID:1732158 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 PMID:8060346 PMID:8240356 PMID:8572257 PMID:8680405 PMID:9450881 PMID:9742104 PMID:10577941 PMID:11069477 PMID:11175301 PMID:16152638 PMID:17659260 PMID:20301595 PMID:22130971 PMID:24713204 PMID:25741868 PMID:26467025 PMID:31965079 PMID:32906214 More...
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:26467025 PMID:32906214 |
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NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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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:8739943 PMID:12414820 PMID:12915481 PMID:20301382 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G |
Mt-cyb |
mitochondrially encoded cytochrome b |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder |
ClinVar |
PMID:11601507 PMID:11891837 PMID:23418307 PMID:25741868 PMID:32906214 |
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder |
ClinVar |
PMID:1550131 PMID:1613771 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8496715 PMID:8687424 PMID:8817331 PMID:9039999 PMID:9111378 PMID:9164619 PMID:9315872 PMID:9391883 PMID:9490575 PMID:9779807 PMID:9831149 PMID:9887373 PMID:9915970 PMID:9950117 PMID:10521300 PMID:10577941 PMID:10633132 PMID:10661905 PMID:10788333 PMID:10915767 PMID:10976107 PMID:11174059 PMID:11230176 PMID:11388757 PMID:11479733 PMID:11854175 PMID:11857751 PMID:11870684 PMID:12031626 PMID:12054632 PMID:12112111 PMID:12127547 PMID:12372057 PMID:12624722 PMID:12655418 PMID:12920080 PMID:12939650 PMID:12955586 PMID:14699607 PMID:14755216 PMID:15342361 PMID:15466014 PMID:15505787 PMID:15708009 PMID:15720387 PMID:15841390 PMID:15883259 PMID:15917167 PMID:15972314 PMID:16152638 PMID:16168391 PMID:16375862 PMID:16458854 PMID:16631122 PMID:16738010 PMID:16826519 PMID:16935512 PMID:16955413 PMID:16969869 PMID:17341440 PMID:17562939 PMID:17620555 PMID:17637808 PMID:17723226 PMID:17999439 PMID:18386806 PMID:18790089 PMID:18820594 PMID:18830133 PMID:18983818 PMID:19196684 PMID:19196685 PMID:19376484 PMID:19475720 PMID:19497304 PMID:19555656 PMID:19687236 PMID:19818876 PMID:19835846 PMID:20100600 PMID:20111055 PMID:20172897 PMID:20301353 PMID:20301595 PMID:20353758 PMID:20416460 PMID:21047563 PMID:21162657 PMID:21205314 PMID:21329993 PMID:21495045 PMID:21504270 PMID:21725156 PMID:21777984 PMID:21811586 PMID:21828074 PMID:22079202 PMID:22223843 PMID:22475488 PMID:22879922 PMID:22879993 PMID:22992668 PMID:23246842 PMID:23256547 PMID:23525847 PMID:24033266 PMID:24252789 PMID:24651602 PMID:24703164 PMID:24830958 PMID:24884847 PMID:25155176 PMID:25194554 PMID:25515069 PMID:25741868 PMID:25744662 PMID:26497601 PMID:26822237 PMID:27427311 PMID:28049726 PMID:28520359 PMID:29805548 PMID:30143805 PMID:32906214 PMID:35383288 More...
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NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
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NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:11456298 PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 PMID:17152068 PMID:17413873 PMID:17535832 PMID:19458970 PMID:20301382 PMID:25741868 More...
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:1346348 PMID:1352537 PMID:1417830 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:7763260 PMID:8101084 PMID:8240101 PMID:8240102 PMID:8448903 PMID:8449667 PMID:8457609 PMID:8474822 PMID:8489402 PMID:8489411 PMID:8644732 PMID:9150158 PMID:10976107 PMID:11169561 PMID:11854175 PMID:12402249 PMID:12560876 PMID:12707444 PMID:16120329 PMID:16431939 PMID:16477364 PMID:16532388 PMID:18771762 PMID:19026397 PMID:20301353 PMID:20301382 PMID:25741868 PMID:30143805 More...
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:8680405 PMID:11935318 PMID:20301353 PMID:20301382 PMID:30143805 PMID:32906214 More...
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NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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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:11198278 PMID:11938446 PMID:12624137 PMID:12736867 PMID:14520659 PMID:14730434 PMID:15521990 PMID:15767514 PMID:16306525 PMID:16816025 PMID:17317336 PMID:17400793 PMID:18332249 PMID:18977334 PMID:20301353 PMID:20301382 PMID:22249460 PMID:22577219 PMID:25741868 PMID:27164671 PMID:30143805 PMID:32906214 More...
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NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 PMID:8470982 PMID:8622678 PMID:9012411 PMID:9849804 PMID:10072046 PMID:10631164 PMID:10894222 PMID:11133798 PMID:11781695 PMID:12112086 PMID:12205655 PMID:12736867 PMID:12827453 PMID:14520668 PMID:14595656 PMID:14735585 PMID:15954041 PMID:16337195 PMID:16380132 PMID:18674747 PMID:20301353 PMID:25741868 PMID:30143805 PMID:32906214 PMID:35715829 More...
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G |
Nars2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
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NCBI chr 1:151,300,446...151,412,086
Ensembl chr 1:151,300,467...151,413,521
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G |
Ndufa6 |
NADH:ubiquinone oxidoreductase subunit A6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:30245030 PMID:30847515 |
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NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
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G |
Ndufaf8 |
NADH:ubiquinone oxidoreductase complex assembly factor 8 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:31866046 |
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NCBI chr10:105,381,491...105,383,643
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G |
Ndufb7 |
NADH:ubiquinone oxidoreductase subunit B7 |
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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 |
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NCBI chr19:24,568,241...24,572,579
Ensembl chr19:24,568,241...24,572,579
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G |
Ndufc2 |
NADH:ubiquinone oxidoreductase subunit C2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:32969598 |
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NCBI chr 1:151,711,965...151,718,188
Ensembl chr 1:151,711,901...151,718,189
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G |
Nol3 |
nucleolar protein 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19139834 |
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NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16157314 |
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NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nubpl |
NUBP iron-sulfur cluster assembly factor like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20818383 |
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NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder |
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:17722006 PMID:18065439 PMID:18158317 PMID:18222991 PMID:19029523 PMID:19319978 PMID:20157015 PMID:20185555 PMID:20301426 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22382025 PMID:22433900 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 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...
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NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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G |
Oxa1l |
OXA1L, mitochondrial inner membrane protein |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:30201738 |
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NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the mitochondrion |
ClinVar |
PMID:1301207 PMID:7887409 PMID:10679936 PMID:15384102 PMID:15473177 PMID:20002125 PMID:25590979 PMID:25741868 PMID:28492532 More...
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NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Pet100 |
PET100 cytochrome c oxidase chaperone |
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ISO |
ClinVar Annotator: match by term: Abnormality of the mitochondrion |
ClinVar |
|
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NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Abnormality of the mitochondrion | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder |
CTD ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2725645 PMID:7847370 PMID:9536098 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 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: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:16896309 PMID:16940310 PMID:16957900 PMID:17088268 PMID:17310215 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17576681 PMID:17725985 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19500334 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:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21276947 PMID:21305355 PMID:21455106 PMID:21515089 PMID:21647632 PMID:21670405 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:23921535 PMID:24033266 PMID:24122062 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24398692 PMID:24508722 PMID:24725338 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:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27111573 PMID:27185166 PMID:27271921 PMID:27290639 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:29431110 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:30678510 PMID:30843307 PMID:30860128 PMID:30936349 PMID:31147703 PMID:31164858 PMID:31475037 PMID:31521625 PMID:31589614 PMID:31645654 PMID:31980526 PMID:32161153 PMID:32567010 PMID:33396418 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Rmnd1 |
required for meiotic nuclear division 1 homolog |
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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:29071585 PMID:31506229 PMID:31568715 PMID:32576985 More...
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NCBI chr 1:40,859,829...40,894,376
Ensembl chr 1:40,859,829...40,894,314
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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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...
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Sco1 |
synthesis of cytochrome C oxidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17182746 |
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NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
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G |
Slc25a4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar RGD |
PMID:25741868 PMID:27693233 PMID:10220377 |
RGD:1581261 |
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9917329 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Stxbp2 |
syntaxin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the mitochondrion |
ClinVar |
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NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 PMID:12515039 PMID:12943968 PMID:16326995 PMID:16542579 PMID:19780766 PMID:22488715 PMID:23829769 PMID:24027061 PMID:25741868 PMID:27896082 PMID:28492532 PMID:28639102 PMID:32445240 PMID:34302356 More...
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NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
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G |
Tmem126b |
transmembrane protein 126B |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:27290639 PMID:27374773 PMID:27374774 PMID:28492532 PMID:29093663 PMID:30369941 PMID:31658717 More...
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NCBI chr 1:144,437,142...144,451,508
Ensembl chr 1:144,437,145...144,451,435
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G |
Top3a |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:29290614 |
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NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Trmt10c |
tRNA methyltransferase 10C, mitochondrial RNase P subunit |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:27132592 |
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NCBI chr11:44,584,388...44,589,466
Ensembl chr11:44,584,113...44,589,568
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G |
Ttc19 |
tetratricopeptide repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
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NCBI chr10:46,969,723...46,997,607
Ensembl chr10:46,969,727...46,997,789
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:11431692 PMID:12707443 PMID:12872260 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18575922 PMID:18971204 PMID:18973250 PMID:19084593 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:24076137 PMID:24086434 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:30496414 PMID:32161153 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Uqcrfs1 |
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 |
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ISS |
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MouseDO |
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NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
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G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:28812649 |
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NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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G |
Acat2 |
acetyl-CoA acetyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
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Agpat4 |
1-acylglycerol-3-phosphate O-acyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,525,131...48,633,798
Ensembl chr 1:48,527,323...48,633,345
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Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: MEGDEL syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
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G |
Dynlt1 |
dynein light chain Tctex-type 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881
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Ezr |
ezrin |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
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G |
Fndc1 |
fibronectin type III domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259
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Gtf2h5 |
general transcription factor IIH subunit 5 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
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Igf2r |
insulin-like growth factor 2 receptor |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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G |
Map3k4 |
mitogen activated protein kinase kinase kinase 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358
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Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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Mrpl18 |
mitochondrial ribosomal protein L18 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,837,169...47,841,987
Ensembl chr 1:47,836,561...47,841,987
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Plg |
plasminogen |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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G |
Pnldc1 |
PARN like ribonuclease domain containing exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
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Prkn |
parkin RBR E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Rsph3 |
radial spoke head 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
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Serac1 |
serine active site containing 1 |
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ISO ISS |
OMIM:614739 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:26863999 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:29205472 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 More...
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NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
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G |
Slc22a1 |
solute carrier family 22 member 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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G |
Slc22a2 |
solute carrier family 22 member 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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G |
Slc22a3 |
solute carrier family 22 member 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,235,476...48,324,617
Ensembl chr 1:48,235,476...48,324,612
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sytl3 |
synaptotagmin-like 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460
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G |
Tagap |
T-cell activation RhoGTPase activating protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
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G |
Tcp1 |
t-complex 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,829,061...47,836,809
Ensembl chr 1:47,828,652...47,836,839
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G |
Tmem181 |
transmembrane protein 181 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295
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G |
Tulp4 |
TUB like protein 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688
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G |
Wtap |
WT1 associated protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,665,965...47,691,067
Ensembl chr 1:47,665,965...47,691,065
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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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...
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Aqp4 |
aquaporin 4 |
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ISO |
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RGD |
PMID:20680636 |
RGD:5148026 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 PMID:30634555 PMID:31655921 PMID:33486010 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
susceptibility |
ISO IAGP |
DNA:mutations:cds: ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.P1073L (3218C>T) (human) DNA:missense mutations:cds: |
ClinVar CTD OMIM RGD |
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 PMID:2725645 PMID:7847370 PMID:9500334 PMID:9536098 PMID:11301032 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID: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:19500334 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20400524 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21447491 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22215559 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22377773 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22805437 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23830586 PMID:23836942 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24086434 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24194468 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25193669 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25412673 PMID:25429852 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25497598 PMID:25525159 PMID:25585994 PMID:25638290 PMID:25660390 PMID:25713120 PMID:25724872 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:26640698 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27349602 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27475922 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID: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:29913018 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30385167 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30609409 PMID:30634555 PMID:30637288 PMID:30678510 PMID:30755392 PMID:30818899 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31147703 PMID:31164858 PMID:31425757 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31731261 PMID:31762033 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32161153 PMID:32234506 PMID:32347949 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32504279 PMID:32567010 PMID:32600829 PMID:32703289 PMID:32964447 PMID:33046616 PMID:33233646 PMID:33258288 PMID:33278787 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33579567 PMID:33600046 PMID:33671400 PMID:33726816 PMID:33791913 PMID:34008892 PMID:34194468 PMID:34690748 PMID:34782754 PMID:35101151 PMID:35289132 PMID:35307828 PMID:35641312 PMID:35811324 PMID:15689359 PMID:20142534 PMID:16896309 PMID:22237560 More...
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RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 |
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Polrmt |
RNA polymerase mitochondrial |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
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G |
Ranbp2 |
RAN binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 |
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NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
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G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12565911 PMID:12872260 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17310215 PMID:17420318 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23783014 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25713120 PMID:25741868 PMID:25850945 PMID:25914719 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26357557 PMID:26467025 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27822509 PMID:27838477 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28901595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30860128 PMID:31085725 PMID:31147703 PMID:31164858 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32042919 PMID:32161153 PMID:32234506 PMID:32445240 PMID:33233646 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33600046 PMID:33726816 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
ClinVar |
PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Slc25a4 |
solute carrier family 25 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
OMIM CTD 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 PMID:28823815 PMID:29654543 PMID:33923309 More...
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NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
OMIM CTD ClinVar |
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 PMID:12872260 PMID:15668446 PMID:17614277 PMID:18575922 PMID:18973250 PMID:19084593 PMID:19353676 PMID:19428252 PMID:19513767 PMID:20301746 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24014582 PMID:24018892 PMID:24076137 PMID:24086434 PMID:25133958 PMID:25355836 PMID:25741868 PMID:25989649 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:28178980 PMID:28454995 PMID:28492532 PMID:28812649 PMID:29458409 PMID:30496414 PMID:30799093 PMID:31271879 PMID:31852434 PMID:32619254 PMID:33095980 PMID:34409151 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
ClinVar |
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 More...
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NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
OMIM CTD ClinVar |
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 More...
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NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
OMIM CTD ClinVar |
PMID:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 PMID:24741716 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 More...
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 |
ClinVar |
PMID:23020937 PMID:23934111 PMID:25326637 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:34356170 More...
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NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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G |
Pms2 |
PMS1 homolog 2, mismatch repair system component |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 |
ClinVar |
PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26249686 PMID:28492532 PMID:30653781 More...
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NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 |
OMIM ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID:22334187 PMID:22342071 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25914719 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29997391 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:31085725 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31762033 PMID:31980526 PMID:32042919 PMID:32234506 PMID:32445240 PMID:32567010 PMID:33046616 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Rnaseh1 |
ribonuclease H1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
OMIM CTD ClinVar |
PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 |
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NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236
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G |
Tk2 |
thymidine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 |
OMIM CTD ClinVar |
PMID:12655576 PMID:12682338 PMID:15907288 PMID:18819985 PMID:19265691 PMID:21937588 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29602790 More...
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NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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G |
Dguok |
deoxyguanosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
OMIM CTD ClinVar |
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 PMID:19125351 PMID:23043144 PMID:24423689 PMID:25741868 PMID:26874653 PMID:28492532 PMID:28493820 PMID:28902392 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30393377 PMID:30589726 PMID:30956829 PMID:31664448 More...
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NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
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G |
Top3a |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29290614 |
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NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome |
OMIM CTD ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28492532 PMID:30582773 PMID:30634555 PMID:31435670 PMID:34662929 More...
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
susceptibility |
ISO ISS |
CPS I deficiency, OMIM:237300, DNA:splice-site mutation CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital hyperammonemia, type I |
CTD MouseDO OMIM ClinVar RGD |
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11474210 PMID:11536261 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:19684305 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:24880889 PMID:25640679 PMID:25741868 PMID:26059772 PMID:26440671 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:32670798 PMID:32718099 PMID:32934962 PMID:33190319 PMID:33309754 PMID:33489762 PMID:33551825 PMID:33611823 PMID:33851512 PMID:33924653 PMID:34014557 PMID:34298581 PMID:34440436 PMID:34970092 PMID:8486760 More...
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RGD:1600715 |
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:736528 PMID:835844 PMID:1528846 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:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 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:27974123 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30455135 PMID:30609409 PMID:31372341 PMID:32295037 PMID:32528171 PMID:33123633 PMID:33532864 PMID:34063237 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:23020937 PMID:23934111 PMID:25326637 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:34356170 More...
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NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22334187 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29997391 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30936349 PMID:31085725 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31762033 PMID:31980526 PMID:32042919 PMID:32234506 PMID:32445240 PMID:33046616 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33726816 PMID:34008892 PMID:34782754 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Childhood myocerebrohepatopathy spectrum |
ClinVar |
PMID:12707443 PMID:16621917 PMID:18487244 PMID:18546365 PMID:19752458 PMID:20185557 PMID:21305355 PMID:21880868 PMID:22189570 PMID:23208208 PMID:24265579 PMID:25741868 PMID:27111573 PMID:28471437 PMID:28492532 PMID:30021052 PMID:30167885 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
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NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) CTD Direct Evidence: marker/mechanism DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) DNA:mutations:cds: DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human) |
CTD RGD |
PMID:17923349 PMID:11431686 PMID:17420318 PMID:16401742 PMID:12565911 PMID:12975295 More...
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RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 |
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
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NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 PMID:28492532 PMID:32161153 More...
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
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
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 PMID:14680979 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Twnk |
twinkle mtDNA helicase |
susceptibility |
ISO |
DNA:mutations ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar RGD |
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32161153 PMID:11431692 More...
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RGD:1600544 |
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Aptx |
aprataxin |
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ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 |
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NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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G |
Coq2 |
coenzyme Q2, polyprenyltransferase |
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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:25349199 PMID:25525159 PMID:25548529 PMID:25594503 PMID:25741868 PMID:27493029 PMID:28492532 PMID:29127259 PMID:29637272 PMID:29869118 PMID:30295827 PMID:30613928 More...
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NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
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G |
Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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G |
Coq9 |
coenzyme Q9 |
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ISS ISO |
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
MouseDO ClinVar |
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NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
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G |
Pdss1 |
decaprenyl diphosphate synthase subunit 1 |
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ISO |
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730
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G |
Pdss2 |
decaprenyl diphosphate synthase subunit 2 |
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ISS ISO |
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
MouseDO ClinVar |
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NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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G |
Aars2 |
alanyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25741868 PMID:25986071 PMID:26257172 PMID:28492532 PMID:31850270 PMID:32376792 More...
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
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G |
Gfm1 |
G elongation factor, mitochondrial 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:21119709 PMID:25741868 PMID:28216230 PMID:28492532 PMID:31683770 |
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NCBI chr 2:151,700,573...151,745,477
Ensembl chr 2:151,700,564...151,745,471
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G |
Gga2 |
golgi associated, gamma adaptin ear containing, ARF binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
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NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:176,552,046...176,585,361
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G |
Mrps16 |
mitochondrial ribosomal protein S16 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
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NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656
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G |
Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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G |
Mto1 |
mitochondrial tRNA translation optimization 1 |
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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 |
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NCBI chr 8:79,309,681...79,335,231
Ensembl chr 8:79,309,982...79,335,231
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G |
Mtrfr |
mitochondrial translation release factor in rescue |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
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NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
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G |
Polr1c |
RNA polymerase I and III subunit C |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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G |
Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25741868 PMID:25986071 PMID:26257172 PMID:28492532 PMID:31850270 PMID:32376792 More...
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NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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G |
Tsfm |
Ts translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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G |
Tufm |
Tu translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
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NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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G |
Gfm1 |
G elongation factor, mitochondrial 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
OMIM CTD ClinVar |
PMID:9536098 PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 PMID:17576681 PMID:20843780 PMID:21119709 PMID:21364917 PMID:21986555 PMID:22277967 PMID:23430926 PMID:24033266 PMID:25741868 PMID:25852744 PMID:28216230 PMID:28492532 PMID:31680380 PMID:32313153 PMID:32746448 PMID:32776492 PMID:33176815 More...
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NCBI chr 2:151,700,573...151,745,477
Ensembl chr 2:151,700,564...151,745,471
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G |
Gfm2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
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ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
ClinVar |
PMID:28492532 PMID:29075935 |
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NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197
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G |
Mrpl44 |
mitochondrial ribosomal protein L44 |
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ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812
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G |
Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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G |
Nars2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:151,300,446...151,412,086
Ensembl chr 1:151,300,467...151,413,521
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G |
Vars2 |
valyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994
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G |
Mto1 |
mitochondrial tRNA translation optimization 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25552653 PMID:25640679 PMID:25741868 PMID:25741892 PMID:26061759 PMID:26539891 PMID:27151179 PMID:27256614 PMID:28492532 PMID:29331171 PMID:29440775 PMID:30369941 PMID:30831263 PMID:31451716 PMID:31842146 PMID:33258288 PMID:33586140 More...
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NCBI chr 8:79,309,681...79,335,231
Ensembl chr 8:79,309,982...79,335,231
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 |
ClinVar |
PMID:1672296 PMID:2564168 PMID:2572450 PMID:11992261 PMID:16263833 PMID:16643459 PMID:17020470 PMID:18470943 PMID:18701506 PMID:21407260 PMID:22097954 PMID:22465605 PMID:24039098 PMID:25741868 PMID:26817465 PMID:27959697 PMID:28492532 PMID:29907801 PMID:30375388 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Rmnd1 |
required for meiotic nuclear division 1 homolog |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 |
OMIM CTD 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:29071585 PMID:31506229 PMID:31568715 PMID:31981491 PMID:32576985 More...
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NCBI chr 1:40,859,829...40,894,376
Ensembl chr 1:40,859,829...40,894,314
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G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:22492562 PMID:23008233 PMID:24706556 PMID:25741868 PMID:26741492 PMID:26780086 PMID:26893310 PMID:27117034 PMID:27290639 PMID:28492532 PMID:28748214 PMID:28748215 PMID:28973083 PMID:31520968 PMID:31665838 PMID:32887222 PMID:33128823 PMID:33258288 PMID:33855712 PMID:33962821 PMID:33972171 PMID:34440436 PMID:37377599 More...
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NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
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G |
Gga2 |
golgi associated, gamma adaptin ear containing, ARF binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:176,552,046...176,585,361
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G |
Pnpt1 |
polyribonucleotide nucleotidyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11080643 PMID:23084291 PMID:24088041 PMID:25326635 PMID:25457163 PMID:25741868 PMID:26633545 PMID:27759031 PMID:28492532 PMID:28594066 PMID:28645153 PMID:30046113 PMID:30244537 PMID:30831263 PMID:31752325 PMID:32020600 PMID:32313153 PMID:33158637 PMID:33199448 PMID:33812062 More...
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NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696
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G |
F13a1 |
coagulation factor XIII A1 chain |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 |
ClinVar |
PMID:22833457 PMID:28492532 |
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NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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G |
Fars2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 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:29302074 PMID:30177229 PMID:30250868 PMID:30634555 PMID:30869852 PMID:31329004 PMID:31665838 PMID:31692161 PMID:32007496 PMID:32597768 PMID:32774346 PMID:32989326 PMID:33168986 PMID:33176815 PMID:33972171 PMID:36531778 More...
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NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
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G |
Lyrm4 |
LYR motif containing 4 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 |
ClinVar |
PMID:22833457 PMID:24161539 PMID:25741868 PMID:28492532 PMID:32007496 |
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NCBI chr17:28,746,457...28,861,849
Ensembl chr17:28,746,469...28,861,750
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G |
Nrn1 |
neuritin 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 |
ClinVar |
PMID:22833457 PMID:28492532 |
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NCBI chr17:28,129,969...28,138,898
Ensembl chr17:28,129,977...28,138,896
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G |
Mtfmt |
mitochondrial methionyl-tRNA formyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15 |
OMIM CTD 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 PMID:30087118 PMID:30369941 PMID:30911575 PMID:32577402 More...
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NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
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G |
Mrpl44 |
mitochondrial ribosomal protein L44 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |
OMIM CTD ClinVar |
PMID:23315540 PMID:25326637 PMID:25741868 PMID:25797485 PMID:26001801 PMID:26968897 PMID:28492532 PMID:33726816 PMID:34140213 More...
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NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812
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G |
Elac2 |
elaC ribonuclease Z 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:9536098 PMID:10986046 PMID:11175785 PMID:11507049 PMID:12515253 PMID:12522685 PMID:15863270 PMID:16199547 PMID:17576681 PMID:23849775 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27769300 PMID:28441660 PMID:28454995 PMID:28492532 PMID:30094188 PMID:30217939 PMID:31045291 PMID:32685970 PMID:32870709 PMID:34056100 PMID:34732400 More...
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NCBI chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614
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G |
Sfxn4 |
sideroflexin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
OMIM CTD ClinVar |
PMID:16199547 PMID:24119684 PMID:25741868 PMID:28492532 |
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NCBI chr 1:259,976,480...259,998,778
Ensembl chr 1:259,976,481...259,998,754
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G |
Fars2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
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G |
Lyrm4 |
LYR motif containing 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 |
OMIM CTD ClinVar |
PMID:23814038 PMID:25741868 PMID:28492532 |
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NCBI chr17:28,746,457...28,861,849
Ensembl chr17:28,746,469...28,861,750
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G |
Mrps16 |
mitochondrial ribosomal protein S16 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 |
OMIM CTD ClinVar |
PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 |
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NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656
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G |
Vars2 |
valyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12345 PMID:16199547 PMID:24639874 PMID:24827421 PMID:25058219 PMID:25741868 PMID:27290639 PMID:27502409 PMID:28492532 PMID:29313548 PMID:29314548 PMID:29478218 PMID:30458719 PMID:30925032 PMID:31064326 PMID:31623496 PMID:34362006 More...
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NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994
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G |
Tars2 |
threonyl-tRNA synthetase 2, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 |
OMIM CTD ClinVar |
PMID:24827421 PMID:25741868 PMID:28492532 PMID:33153448 |
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NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184
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G |
Atp5f1a |
ATP synthase F1 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ATP5F1A-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 |
OMIM CTD ClinVar |
PMID:23596069 PMID:25741868 PMID:28492532 PMID:34954817 |
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NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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G |
Gtpbp3 |
GTP binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 |
OMIM CTD ClinVar |
PMID:16199547 PMID:25434004 PMID:25741868 PMID:28492532 PMID:33619562 |
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NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857
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G |
Nars2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 |
OMIM CTD ClinVar |
PMID:22237560 PMID:25385316 PMID:25629079 PMID:25741868 PMID:25807530 PMID:26402642 PMID:26467025 PMID:28077841 PMID:28492532 PMID:30327238 PMID:31665838 PMID:34374940 PMID:35558980 More...
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NCBI chr 1:151,300,446...151,412,086
Ensembl chr 1:151,300,467...151,413,521
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G |
Mars2 |
methionyl-tRNA synthetase 2, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 |
OMIM CTD ClinVar |
PMID:25741868 PMID:25754315 |
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NCBI chr 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820
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G |
Trmt5 |
tRNA methyltransferase 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY |
OMIM CTD ClinVar |
PMID:2544623 PMID:25741868 PMID:26189817 PMID:28492532 PMID:29021354 PMID:31038196 PMID:35342985 More...
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NCBI chr 6:91,963,558...91,987,660
Ensembl chr 6:91,943,724...91,987,555
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G |
Cars2 |
cysteinyl-tRNA synthetase 2, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25361775 PMID:25640679 PMID:25741868 PMID:25787132 PMID:28492532 PMID:30139652 More...
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NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
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Naxd |
NAD(P)HX dehydratase |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
ClinVar |
PMID:28492532 |
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NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
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Slc25a26 |
solute carrier family 25 member 26 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 |
OMIM CTD ClinVar |
PMID:25741868 PMID:26522469 PMID:28492532 |
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NCBI chr 4:127,036,704...127,131,026
Ensembl chr 4:127,036,742...127,131,020
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Txn2 |
thioredoxin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 |
OMIM CTD ClinVar |
PMID:25741868 PMID:26626369 PMID:28492532 |
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NCBI chr 7:109,496,772...109,510,378
Ensembl chr 7:109,496,761...109,510,359
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Avil |
advillin |
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ISO |
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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Tsfm |
Ts translation elongation factor, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
OMIM CTD ClinVar |
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25078778 PMID:25741868 PMID:28074886 PMID:28492532 PMID:29261183 PMID:31267352 PMID:33816677 More...
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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Trmt10c |
tRNA methyltransferase 10C, mitochondrial RNase P subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 |
OMIM CTD ClinVar |
PMID:25741868 PMID:27132592 |
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NCBI chr11:44,584,388...44,589,466
Ensembl chr11:44,584,113...44,589,568
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Mipep |
mitochondrial intermediate peptidase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
OMIM CTD ClinVar |
PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 More...
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NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727
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Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28777931 PMID:35326425 |
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NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
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Mrps34 |
mitochondrial ribosomal protein S34 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 |
OMIM ClinVar |
PMID:2877793 PMID:25741868 PMID:28492532 PMID:28777931 PMID:35326425 |
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NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
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C1qbp |
complement C1q binding protein |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 33 |
OMIM ClinVar |
PMID:28492532 PMID:28942965 PMID:32652806 PMID:34003581 |
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NCBI chr10:55,699,954...55,704,605
Ensembl chr10:55,699,954...55,704,649
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Gga3 |
golgi associated, gamma adaptin ear containing, ARF binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:100,825,427...100,843,422
Ensembl chr10:100,825,426...100,844,462
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Mrps7 |
mitochondrial ribosomal protein S7 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 |
OMIM ClinVar |
PMID:9063420 PMID:25556185 PMID:25741868 PMID:28492532 |
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NCBI chr10:100,843,691...100,846,838
Ensembl chr10:100,843,356...100,847,129
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Trit1 |
tRNA isopentenyltransferase 1 |
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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:25954003 PMID:26381753 PMID:27618451 PMID:28185376 PMID:28490743 PMID:28492532 PMID:31140736 PMID:32324744 More...
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NCBI chr 5:135,293,472...135,341,522
Ensembl chr 5:135,295,330...135,338,764
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G |
Mrps2 |
mitochondrial ribosomal protein S2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29576219 |
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NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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Micos13 |
mitochondrial contact site and cristae organizing system subunit 13 |
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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 |
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NCBI chr 9:1,439,841...1,441,782
Ensembl chr 9:1,439,058...1,442,076
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Mrps14 |
mitochondrial ribosomal protein S14 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 |
ClinVar OMIM |
PMID:30358850 |
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NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915
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Gfm2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22700954 PMID:25741868 PMID:26016410 PMID:28492532 PMID:29075935 More...
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NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197
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Tufm |
Tu translation elongation factor, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4 |
OMIM CTD ClinVar |
PMID:17160893 PMID:19524667 PMID:20435138 PMID:25741868 PMID:26741492 PMID:28492532 More...
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NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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Qrsl1 |
glutaminyl-tRNA amidotransferase subunit QRSL1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26741492 PMID:28492532 PMID:29440775 PMID:30283131 More...
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NCBI chr20:47,357,206...47,382,160
Ensembl chr20:47,357,216...47,382,135
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Rtn4ip1 |
reticulon 4 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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Gatb |
glutamyl-tRNA amidotransferase subunit B |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 |
OMIM ClinVar |
PMID:25741868 PMID:30283131 |
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NCBI chr 2:170,930,547...171,017,133
Ensembl chr 2:170,930,542...171,016,695
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Gatc |
glutamyl-tRNA amidotransferase subunit C |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 42 |
OMIM ClinVar |
PMID:25741868 PMID:30283131 |
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NCBI chr12:41,270,096...41,278,067
Ensembl chr12:41,270,087...41,277,995
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Timm22 |
translocase of inner mitochondrial membrane 22 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 43 |
OMIM ClinVar |
PMID:22638997 PMID:25741868 PMID:30452684 |
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NCBI chr10:61,253,459...61,261,217
Ensembl chr10:61,253,450...61,261,755
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Fastkd2 |
FAST kinase domains 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 |
OMIM ClinVar |
PMID:18771761 PMID:25741868 PMID:28492532 PMID:28499982 PMID:31944455 |
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NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
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Mrpl12 |
mitochondrial ribosomal protein L12 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 45 |
ClinVar OMIM |
PMID:23603806 |
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NCBI chr10:105,758,410...105,762,913
Ensembl chr10:105,758,410...105,762,913
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G |
Mrps23 |
mitochondrial ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 46 |
OMIM ClinVar |
PMID:25741868 PMID:26741492 |
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NCBI chr10:72,999,033...73,006,791
Ensembl chr10:72,998,497...73,006,264
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Mrps28 |
mitochondrial ribosomal protein S28 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 47 |
ClinVar OMIM |
PMID:30566640 |
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NCBI chr 2:92,820,676...92,951,302
Ensembl chr 2:92,820,606...92,951,284
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Nsun3 |
NOP2/Sun RNA methyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 48 |
OMIM ClinVar |
PMID:27356879 PMID:28492532 PMID:32671698 |
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NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
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Mief2 |
mitochondrial elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 49 |
OMIM ClinVar |
PMID:29361167 |
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NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
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G |
Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:17873122 PMID:18539099 PMID:21189481 PMID:25663021 PMID:25741868 PMID:28492532 PMID:28752220 PMID:29096039 PMID:31683770 More...
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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G |
Mrps25 |
mitochondrial ribosomal protein S25 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 50 |
OMIM ClinVar |
PMID:31039582 |
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NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057
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G |
Ptcd3 |
Pentatricopeptide repeat domain 3 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 51 |
OMIM ClinVar |
PMID:25741868 PMID:30607703 |
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NCBI chr 4:103,922,440...103,957,445
Ensembl chr 4:103,920,566...103,957,538
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Nfs1 |
NFS1 cysteine desulfurase |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 |
OMIM ClinVar |
PMID:16199547 PMID:24498631 PMID:25741868 PMID:28492532 PMID:33457206 |
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NCBI chr 3:144,637,309...144,659,660
Ensembl chr 3:144,637,309...144,659,666
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RGD1306941 |
similar to CG31122-PA |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 |
OMIM ClinVar |
PMID:25741868 PMID:33945503 PMID:34038740 |
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NCBI chr 9:58,949,821...58,958,456
Ensembl chr 9:58,949,846...58,958,561
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Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 54 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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Polrmt |
RNA polymerase mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33602924 |
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NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
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Tamm41 |
TAM41 mitochondrial translocator assembly and maintenance homolog |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 56 |
OMIM ClinVar |
PMID:35321494 |
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NCBI chr 4:148,070,388...148,103,728
Ensembl chr 4:148,018,463...148,103,694
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Crls1 |
cardiolipin synthase 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 57 |
OMIM ClinVar |
PMID:35147173 |
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NCBI chr 3:120,119,822...120,138,674
Ensembl chr 3:120,119,852...120,138,655
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Tefm |
transcription elongation factor, mitochondrial |
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ISO |
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OMIM |
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NCBI chr10:65,119,657...65,124,233
Ensembl chr10:65,119,659...65,124,486
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Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 More...
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
ClinVar |
PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 More...
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NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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Mphosph9 |
M-phase phosphoprotein 9 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
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NCBI chr12:32,275,449...32,346,097
Ensembl chr12:32,275,558...32,342,392
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Mtrfr |
mitochondrial translation release factor in rescue |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
OMIM CTD ClinVar |
PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25058219 PMID:25326635 PMID:25741868 PMID:26380172 PMID:26539891 PMID:27858754 PMID:28091420 PMID:28251916 PMID:28492532 PMID:30369941 PMID:31753091 PMID:32478789 PMID:32581362 PMID:34440436 PMID:34732400 More...
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NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
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Aars2 |
alanyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 PMID:27749956 PMID:27839525 PMID:28492532 PMID:28633377 PMID:29440775 PMID:29749055 PMID:29971983 PMID:30054184 PMID:30285085 PMID:30819764 PMID:31099476 PMID:31106991 PMID:31885218 PMID:35305867 PMID:37377599 More...
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NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090
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Polr1c |
RNA polymerase I and III subunit C |
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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:28633377 PMID:29440775 PMID:29749055 PMID:29971983 PMID:30054184 PMID:30285085 PMID:30819764 PMID:31099476 PMID:31106991 PMID:31885218 PMID:35305867 PMID:37377599 More...
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Sdhd |
succinate dehydrogenase complex subunit D |
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ISO |
ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy |
ClinVar |
PMID:26008905 |
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NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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G |
Mrpl3 |
mitochondrial ribosomal protein L3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 |
OMIM CTD ClinVar |
PMID:21786366 PMID:25741868 PMID:27815843 PMID:28492532 |
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NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544
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Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency |
ClinVar |
PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18924171 PMID:19879173 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25741868 PMID:27290639 PMID:28492532 PMID:28798025 PMID:29193756 PMID:29351582 PMID:31589614 PMID:31623504 PMID:32668698 PMID:33098801 PMID:34426522 PMID:34691145 More...
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NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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Tymp |
thymidine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency |
ClinVar |
PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Coa3 |
cytochrome C oxidase assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25604084 |
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NCBI chr10:86,220,192...86,221,173
Ensembl chr10:86,220,194...86,221,178
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Coa8 |
cytochrome c oxidase assembly factor 8 |
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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 PMID:28492532 |
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NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081
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Cox10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
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ISS ISO |
OMIM:220110 ClinVar Annotator: match by term: COX deficiency | 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 |
MouseDO ClinVar |
PMID:9536098 PMID:12928484 PMID:17576681 PMID:23814038 PMID:25741868 PMID:28492532 PMID:32313153 More...
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NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667
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G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:28492532 |
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NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
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G |
Cox18 |
cytochrome c oxidase assembly factor COX18 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25741868 |
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NCBI chr14:17,864,581...17,877,483
Ensembl chr14:17,865,857...17,877,480
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G |
Cox20 |
cytochrome c oxidase assembly factor COX20 |
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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 PMID:32999401 More...
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NCBI chr13:90,065,900...90,075,386
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Cox6b1 |
cytochrome c oxidase subunit 6B1 |
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ISO |
ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:18499082 PMID:24781756 PMID:25741868 PMID:28492532 |
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NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001 Ensembl chr 2:85,875,109...85,884,001
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Cox8a |
cytochrome c oxidase subunit 8A |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25741868 PMID:26685157 |
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NCBI chr 1:204,402,118...204,404,439
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Cutc |
cutC copper transporter |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
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NCBI chr 1:242,622,281...242,637,048
Ensembl chr 1:242,622,276...242,637,047
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Entpd7 |
ectonucleoside triphosphate diphosphohydrolase 7 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
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NCBI chr 1:242,559,365...242,601,044
Ensembl chr 1:242,559,365...242,601,447
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Fastkd2 |
FAST kinase domains 2 |
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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...
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NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
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Lrpprc |
leucine-rich pentatricopeptide repeat containing |
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ISO |
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RGD |
PMID:12529507 |
RGD:1600676 |
NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293
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Mrpl44 |
mitochondrial ribosomal protein L44 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812
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Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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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 |
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:10205264 PMID:10486321 PMID:11471180 PMID:11558799 |
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NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:8630495 PMID:9634511 PMID:11063732 PMID:12414820 PMID:25741868 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
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 PMID:28518168 PMID:32461654 More...
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NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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Pet100 |
PET100 cytochrome c oxidase chaperone |
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ISO |
ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 |
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NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
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Sco1 |
synthesis of cytochrome C oxidase 1 |
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ISS ISO |
OMIM:220110 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 |
MouseDO ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 |
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NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
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Stxbp2 |
syntaxin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 |
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NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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Surf1 |
SURF1, cytochrome c oxidase assembly factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
CTD ClinVar |
PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 PMID:10647889 PMID:10746561 PMID:11317352 PMID:12515039 PMID:12943968 PMID:15214016 PMID:16199547 PMID:16326995 PMID:16542579 PMID:17576681 PMID:19780766 PMID:20624914 PMID:21937992 PMID:22488715 PMID:23829769 PMID:24027061 PMID:24462369 PMID:25111564 PMID:25741868 PMID:27756633 PMID:27896082 PMID:28492532 PMID:28639102 PMID:29933018 PMID:30872186 PMID:32445240 PMID:33134083 PMID:34302356 PMID:35693685 More...
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NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
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Taco1 |
translational activator of cytochrome c oxidase I |
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ISO |
CTD Direct Evidence: marker/mechanism 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 |
CTD ClinVar |
PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 |
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NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042
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Tymp |
thymidine phosphorylase |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Btk |
Bruton tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Deafness dystonia syndrome |
ClinVar |
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NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Timm8a1 |
translocase of inner mitochondrial membrane 8A1 |
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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:17999202 PMID:20301395 PMID:24033266 PMID:25741868 PMID:15710860 PMID:17471106 PMID:11601506 More...
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RGD:13209130, RGD:13209136, RGD:13209134 |
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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Dguok |
deoxyguanosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26342080 |
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NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
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Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26342080 |
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NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Slc25a12 |
solute carrier family 25 member 12 |
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ISO ISS |
OMIM:612949 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:19641205 PMID:24515575 PMID:25741868 PMID:28492532 PMID:31403263 More...
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NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100
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Cep55 |
centrosomal protein 55 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394
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Dnm1l |
dynamin 1-like |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
OMIM CTD 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...
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Osbpl7 |
oxysterol binding protein-like 7 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
ClinVar |
PMID:25741868 |
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NCBI chr10:82,035,995...82,053,566
Ensembl chr10:82,036,042...82,053,557
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Yars2 |
tyrosyl-tRNA synthetase 2 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
ClinVar |
PMID:25741868 |
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NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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Mff |
mitochondrial fission factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
OMIM CTD ClinVar |
PMID:22499341 PMID:25558065 PMID:25741868 PMID:26783368 PMID:28492532 PMID:32181496 PMID:34750646 More...
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NCBI chr 9:84,007,798...84,036,039
Ensembl chr 9:84,007,798...84,036,039
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Fdx2 |
ferredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849
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Cadm4 |
cell adhesion molecule 4 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,075,163...80,097,423
Ensembl chr 1:80,075,202...80,097,423
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Ceacam16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871
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Ceacam19 |
CEA cell adhesion molecule 19 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,542,107...79,550,927
Ensembl chr 1:79,542,107...79,550,927
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Ceacam20 |
CEA cell adhesion molecule 20 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,622,077...79,643,782
Ensembl chr 1:79,622,077...79,643,782
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Ethe1 |
ETHE1, persulfide dioxygenase |
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ISO ISS |
OMIM:602473 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
OMIM MouseDO CTD ClinVar |
PMID:2777167 PMID:9536098 PMID:14732903 PMID:16183799 PMID:16199547 PMID:16828325 PMID:16906473 PMID:17353187 PMID:17576681 PMID:17712735 PMID:18593870 PMID:19136963 PMID:19289697 PMID:20528888 PMID:21472225 PMID:25058219 PMID:25198162 PMID:25596185 PMID:25741868 PMID:26194623 PMID:27391121 PMID:27771676 PMID:27830356 PMID:28492532 PMID:28933811 PMID:29625556 PMID:30298498 PMID:30349987 PMID:30864297 PMID:31477743 PMID:32111695 PMID:32485156 PMID:32860008 PMID:32923369 More...
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NCBI chr 1:80,184,037...80,199,092
Ensembl chr 1:80,183,894...80,199,052
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Igsf23 |
immunoglobulin superfamily, member 23 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,591,059...79,606,323
Ensembl chr 1:79,592,088...79,610,438
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Irgc |
immunity related GTPase cinema |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,020,114...80,025,797
Ensembl chr 1:80,020,079...80,025,802
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Irgq |
immunity-related GTPase Q |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,123,925...80,131,881
Ensembl chr 1:80,123,925...80,131,881
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Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Lypd5 |
Ly6/Plaur domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,929,818...79,941,791
Ensembl chr 1:79,935,240...79,941,039
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Pinlyp |
phospholipase A2 inhibitor and Ly6/Plaur domain containing |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,134,642...80,140,488
Ensembl chr 1:80,134,643...80,139,996
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Plaur |
plasminogen activator, urokinase receptor |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Pvr |
PVR cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,561,294...79,576,700
Ensembl chr 1:79,546,879...79,576,715
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Smg9 |
SMG9 nonsense mediated mRNA decay factor |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254
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Srrm5 |
serine/arginine repetitive matrix 5 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,103,042...80,104,777
Ensembl chr 1:80,103,042...80,104,777
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Xrcc1 |
X-ray repair cross complementing 1 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zfp111 |
zinc finger protein 111 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,762,897...79,774,274
Ensembl chr 1:79,762,782...79,775,608
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Zfp112 |
zinc finger protein 112 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,676,933...79,691,994
Ensembl chr 1:79,676,839...79,691,994
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Zfp180 |
zinc finger protein 180 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,652,441...79,672,737
Ensembl chr 1:79,652,441...79,672,733
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Zfp428 |
zinc finger protein 428 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,099,520...80,108,875
Ensembl chr 1:80,099,441...80,108,870
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Zfp575 |
zinc finger protein 575 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,175,016...80,177,176
Ensembl chr 1:80,175,016...80,177,123
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Zfp94 |
zinc finger protein 94 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,858,188...79,879,702
Ensembl chr 1:79,859,180...79,879,612
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Znf235 |
zinc finger protein 235 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,698,989...79,708,439
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Znf235-ps1 |
zinc finger protein 235, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:79,799,766...79,808,543
Ensembl chr 1:79,799,769...79,808,465
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Dcc |
DCC netrin 1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28250456 |
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NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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G |
Robo3 |
roundabout guidance receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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Robo3 |
roundabout guidance receptor 3 |
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ISO |
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 |
OMIM ClinVar |
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 PMID:19633821 PMID:21850172 PMID:24969490 PMID:25326635 PMID:25741868 PMID:27318526 PMID:28024310 PMID:28492532 PMID:29215389 PMID:32373565 PMID:32580277 PMID:32860008 PMID:34374989 More...
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NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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Dcc |
DCC netrin 1 receptor |
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ISO |
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 |
OMIM ClinVar |
PMID:25741868 PMID:28250456 PMID:28492532 |
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NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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Lrpprc |
leucine-rich pentatricopeptide repeat containing |
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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:9536098 PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 PMID:17576681 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 PMID:31308188 PMID:32962729 PMID:33658040 PMID:34440436 More...
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NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293
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G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16326995 |
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NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
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Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
DNA:SNP: :rs5186(human) |
RGD |
PMID:21771600 |
RGD:401717567 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Fxn |
frataxin |
treatment onset |
ISO ISS |
DNA:point mutation:exon:p.G130V DNA:repeat,deletion:intron,exon:GAA(human) ClinVar Annotator: match by term: Friedreich ataxia CTD Direct Evidence: marker/mechanism DNA:repeat:intron:GAA (human) |
MouseDO ClinVar CTD RGD |
PMID:8596916 PMID:9090376 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:19775837 PMID:20098685 PMID:20162437 PMID:21298097 PMID:22016819 PMID:23418481 PMID:25566998 PMID:25741868 PMID:26301374 PMID:26339677 PMID:26467025 PMID:26704351 PMID:26954031 PMID:28812047 PMID:29272104 PMID:30451920 PMID:31980526 PMID:34747814 PMID:10543403 PMID:32646255 PMID:22409940 PMID:22113996 PMID:37166361 PMID:24667739 PMID:8596916 More...
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RGD:1598961, RGD:401793713, RGD:401793711, RGD:401793708, RGD:401793707, RGD:401717566, RGD:1582636 |
NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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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
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G |
Fxn |
frataxin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Friedreich ataxia 1 |
OMIM CTD ClinVar |
PMID:25741868 PMID:26467025 PMID:34906502 |
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NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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G |
Etfa |
electron transfer flavoprotein subunit alpha |
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ISO |
ClinVar Annotator: match by term: Glutaric acidemia type 2A |
ClinVar |
PMID:9536098 PMID:16510302 PMID:17576681 PMID:18289905 PMID:23785301 PMID:25741868 PMID:28492532 PMID:29096039 PMID:31268564 More...
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NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
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G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO ISS |
OMIM:603358 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GRACILE syndrome |
OMIM MouseDO CTD ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:33511646 PMID:34662929 More...
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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G |
Hmgcs2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
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ISO ISS |
OMIM:605911 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY |
OMIM MouseDO CTD 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:30477625 PMID:31910233 PMID:32259399 PMID:32952630 PMID:33045405 PMID:35308163 More...
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NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
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G |
Phgdh |
phosphoglycerate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency |
ClinVar |
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NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
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G |
Apbb2 |
amyloid beta precursor protein binding family B member 2 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:41,557,918...41,878,622
Ensembl chr14:41,557,972...41,877,495
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G |
Chrna9 |
cholinergic receptor nicotinic alpha 9 subunit |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192
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G |
Fam114a1 |
family with sequence similarity 114, member A1 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,275,693...43,346,154
Ensembl chr14:43,275,701...43,346,174
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G |
Klb |
klotho beta |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
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G |
Klhl5 |
kelch-like family member 5 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,144,254...43,206,192
Ensembl chr14:43,144,257...43,184,238
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G |
Lias |
lipoic acid synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
OMIM CTD ClinVar |
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26108146 PMID:26467025 PMID:27923773 PMID:28492532 PMID:28817111 PMID:36680912 More...
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NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
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G |
Limch1 |
LIM and calponin homology domains 1 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:41,112,579...41,425,001
Ensembl chr14:41,114,803...41,425,191
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G |
N4bp2 |
NEDD4 binding protein 2 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,342,690...42,479,861
Ensembl chr14:42,409,510...42,483,960
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G |
Nsun7 |
NOP2/Sun RNA methyltransferase family member 7 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:41,878,562...41,935,238
Ensembl chr14:41,879,293...41,934,949
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G |
Pds5a |
PDS5 cohesin associated factor A |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,551,653...42,651,074
Ensembl chr14:42,552,647...42,648,669
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G |
Phox2b |
paired-like homeobox 2b |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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G |
Rbm47 |
RNA binding motif protein 47 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431
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G |
Rfc1 |
replication factor C subunit 1 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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G |
Rhoh |
ras homolog family member H |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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G |
Rpl9 |
ribosomal protein L9 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136 Ensembl chr 3:42,893,942...42,897,136
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G |
Smim14 |
small integral membrane protein 14 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,783,361...42,829,762
Ensembl chr14:42,783,332...42,829,760
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G |
Tlr1 |
toll-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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G |
Tlr10 |
toll-like receptor 10 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917
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G |
Tlr6 |
toll-like receptor 6 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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G |
Tmem156 |
transmembrane protein 156 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,221,464...43,252,453
Ensembl chr14:43,223,381...43,252,449
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G |
Ube2k |
ubiquitin-conjugating enzyme E2K |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,658,016...42,718,899
Ensembl chr14:42,658,016...42,718,630
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G |
Uchl1 |
ubiquitin C-terminal hydrolase L1 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
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G |
Ugdh |
UDP-glucose 6-dehydrogenase |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Atp5f1b |
ATP synthase F1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Hypermetabolism due to Defect in Mitochondrial Coupling |
ClinVar |
PMID:36239646 |
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NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
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G |
Atp5f1b |
ATP synthase F1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 |
OMIM ClinVar |
PMID:36239646 |
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NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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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...
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RGD:12910473 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 |
ClinVar |
PMID:29389947 |
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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G |
Camkmt |
calmodulin-lysine N-methyltransferase |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:606407 |
CTD MouseDO |
PMID:26247364 |
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NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
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G |
Ppm1b |
protein phosphatase, Mg2+/Mn2+ dependent, 1B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
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NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974
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G |
Prepl |
prolyl endopeptidase-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
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NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
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G |
Slc3a1 |
solute carrier family 3 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
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NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
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G |
Chchd10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance | ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant |
OMIM CTD ClinVar |
PMID:4104978 PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:24934289 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25428574 PMID:25576308 PMID:25681414 PMID:25700176 PMID:25726362 PMID:25741868 PMID:25833818 PMID:26152333 PMID:26224640 PMID:27066538 PMID:27810918 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29540477 PMID:29789341 PMID:30014597 PMID:31690696 PMID:33749723 PMID:35700042 More...
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NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
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G |
RGD1564162 |
similar to Homo sapiens fetal lung specific expression unknown |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: Kearns-Sayre syndrome |
ClinVar |
PMID:20301382 |
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NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
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ISO |
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RGD |
PMID:23406886 |
RGD:7241824 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Tfam |
transcription factor A, mitochondrial |
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ISS |
OMIM:530000 |
MouseDO |
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NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
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:9758712 PMID:10090476 PMID:10398215 PMID:10734268 PMID:10862092 PMID:10868782 PMID:10873395 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:16168441 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:19762733 PMID:20301431 PMID:20661589 PMID:20810031 PMID:21227726 PMID:21709843 PMID:21913903 PMID:22652984 PMID:22854105 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23911907 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:27629963 PMID:27974123 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30455135 PMID:30609409 PMID:31372341 PMID:32295037 PMID:32528171 PMID:33123633 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Apoa4 |
apolipoprotein A4 |
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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
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G |
Ephx1 |
epoxide hydrolase 1 |
onset |
ISO |
DNA:missense mutation:cds:p.Y113H (human) |
RGD |
PMID:15838728 |
RGD:5688732 |
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Lrat |
lecithin retinol acyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16250670 PMID:17011878 |
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NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
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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:3612192 PMID:7668837 PMID:7726182 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8554662 PMID:8602753 PMID:8644724 PMID:8739943 PMID:8750605 PMID:9199572 PMID:9221962 PMID:9270604 PMID:9329425 PMID:9501263 PMID:9556461 PMID:9568930 PMID:9631394 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11119722 PMID:11245730 PMID:11371515 PMID:11382202 PMID:11730668 PMID:11731285 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:12915481 PMID:14998933 PMID:16049925 PMID:16217706 PMID:17352390 PMID:17452590 PMID:17663470 PMID:18055910 PMID:18461509 PMID:19160410 PMID:19454486 PMID:19626676 PMID:19667215 PMID:19875463 PMID:20056103 PMID:20301353 PMID:22577227 PMID:22789932 PMID:22933740 PMID:23206802 PMID:24002810 PMID:24088041 PMID:25037980 PMID:25741868 PMID:26633545 PMID:27450679 PMID:27812026 PMID:29350304 PMID:29602698 PMID:30143805 PMID:31181185 PMID:31187502 PMID:31379041 |