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G |
ACO2 |
aconitase 2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 |
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NCBI chr19:24,008,602...24,068,346
Ensembl chr19:24,008,667...24,071,356
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G |
ATP5F1A |
ATP synthase F1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
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NCBI chr18:34,815,924...34,828,052
Ensembl chr18:34,816,027...34,830,924
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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 6:1,010,210...1,013,360
Ensembl chr 6:1,010,265...1,013,002
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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 1:106,539,262...106,876,397
Ensembl chr 1:106,539,136...106,606,637
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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 chr23:52,829,438...52,899,428
Ensembl chr23:52,829,350...52,899,375
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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 chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829
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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 chr25:2,780,593...2,827,565
Ensembl chr25:2,779,504...2,826,538
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G |
COX20 |
COX20, cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 |
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NCBI chr25:81,861,673...81,869,597
Ensembl chr25:81,862,035...81,869,506
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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 chr14:33,320,957...33,356,088
Ensembl chr14:33,320,969...33,356,093
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G |
DNM1L |
dynamin 1 like |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 |
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NCBI chr11:32,114,642...32,178,330
Ensembl chr11:32,114,675...32,177,661
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G |
EME2 |
essential meiotic structure-specific endonuclease subunit 2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
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NCBI chr 5:1,682,232...1,685,863
Ensembl chr 5:1,682,249...1,685,260
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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 chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
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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 chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
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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 1:117,394,426...117,404,692
Ensembl chr 1:117,394,587...117,404,258
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G |
GFER |
growth factor, augmenter of liver regeneration |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28812649 PMID:34732400 |
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NCBI chr 5:1,880,025...1,886,829
Ensembl chr 5:1,879,968...1,883,696
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G |
GFM2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29075935 |
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NCBI chr 4:69,065,841...69,114,724
Ensembl chr 4:69,066,293...69,114,508
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G |
GSTP1 |
glutathione S-transferase pi 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
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NCBI chr 1:6,676,897...6,679,936
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G |
HADHB |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
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ISO |
Mitochondrial trifunctional protein deficiency, OMIM:609015; DNA:point_mutations:CDS:compound heterozygote 182G>A amino acid R61H, and 740G>A amino acid R247H |
RGD |
PMID:8651282 |
RGD:1600779 |
NCBI chr14:81,361,735...81,411,588
Ensembl chr14:81,361,612...81,411,432
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G |
HIBCH |
3-hydroxyisobutyryl-CoA hydrolase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
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NCBI chr10:75,711,829...75,852,055
Ensembl chr10:75,715,996...75,828,310
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G |
LOC103233807 |
protein PET100 homolog, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Abnormality of the mitochondrion |
ClinVar |
PMID:25741868 |
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NCBI chr 6:7,116,233...7,118,101
Ensembl chr 6:7,116,314...7,118,030
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G |
LOC103234417 |
cytochrome b-c1 complex subunit Rieske, mitochondrial |
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ISO |
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MouseDO |
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NCBI chr 6:24,293,640...24,298,983
Ensembl chr 6:24,293,920...24,299,043
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G |
LOC103239687 |
surfeit locus protein 1 |
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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 chr12:4,780,415...4,785,538
Ensembl chr12:4,780,568...4,785,385
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G |
LOC103243713 |
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder |
ClinVar |
PMID:25741868 PMID:31866046 |
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NCBI chr16:73,190,114...73,192,088
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G |
MAP1LC3B |
microtubule associated protein 1 light chain 3 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30673822 |
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NCBI chr 5:72,762,428...72,774,204
Ensembl chr 5:72,763,050...72,772,770
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G |
MCCC2 |
methylcrotonyl-CoA carboxylase subunit 2 |
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ISO |
DNA:missense mutations, frameshift mutations:multiple (human) |
RGD |
PMID:11170888 |
RGD:2316864 |
NCBI chr 4:65,944,742...66,013,663
Ensembl chr 4:65,944,840...66,013,663
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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 PMID:34988976 PMID:36262091 More...
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NCBI chr20:103,591,944...103,630,253
Ensembl chr20:103,591,944...103,629,102
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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 2:47,028,568...47,050,950
Ensembl chr 2:47,029,329...47,050,948
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G |
MPV17 |
mitochondrial inner membrane protein MPV17 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:16582910 PMID:16909392 PMID:18261905 PMID:19012992 PMID:20074988 PMID:25741868 PMID:26467025 PMID:28209105 PMID:28492532 PMID:29282788 PMID:30273399 PMID:30833296 PMID:32703289 More...
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NCBI chr14:80,289,285...80,302,838
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G |
MRPL39 |
mitochondrial ribosomal protein L39 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:8602753 PMID:25741868 PMID:37133451 |
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NCBI chr 2:66,666,083...66,902,386
Ensembl chr 2:66,666,728...66,686,353
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G |
MRPS34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
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NCBI chr 5:1,680,898...1,682,159
Ensembl chr 5:1,681,228...1,682,151
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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 1:69,647,713...69,778,390
Ensembl chr 1:69,643,531...69,778,361
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G |
NDUFA6 |
NADH:ubiquinone oxidoreductase subunit A6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder |
ClinVar |
PMID:30245030 PMID:30847515 |
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NCBI chr19:24,622,172...24,630,977
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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 chr 6:13,225,005...13,230,650
Ensembl chr 6:13,225,006...13,230,630
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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 1:69,275,729...69,285,782
Ensembl chr 1:69,272,890...69,286,276
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G |
NDUFS1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:91,893,337...91,927,559
Ensembl chr10:91,893,616...91,927,592
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G |
NOL3 |
nucleolar protein 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19139834 |
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NCBI chr 5:60,281,492...60,286,865
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G |
NOS2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16157314 |
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NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
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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:17306754 PMID:17722006 PMID:18065439 PMID:18158317 PMID:18222991 PMID:19029523 PMID:19319978 PMID:20157015 PMID:20185555 PMID:20301426 PMID:20417570 PMID:20484224 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22382025 PMID:22433900 PMID:22857269 PMID:23250881 PMID:23384603 PMID:23401657 PMID:24086434 PMID:24798923 PMID:24907432 PMID:25012220 PMID:25641387 PMID:25741868 PMID:26385429 PMID:26467025 PMID:26905822 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:30165240 PMID:30293569 PMID:31500643 PMID:31609081 PMID:31673222 PMID:32025183 PMID:33546218 PMID:33884488 PMID:34014035 PMID:34242285 PMID:37091313 More...
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NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102
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G |
OXA1L |
OXA1L mitochondrial inner membrane insertase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:30201738 |
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NCBI chr29:23,131,273...23,137,470
Ensembl chr29:23,131,453...23,137,245
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G |
PDHA1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
|
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:17,804,123...17,820,087
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
|
ISO |
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 |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2504279 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:14745080 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:17923349 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:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19221117 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:20685647 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:21038416 PMID:21138766 PMID:21167499 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:22000311 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22342071 PMID:22470557 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22931735 PMID:22980518 PMID:22987704 PMID:22995991 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23836942 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 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:28865037 PMID:29029963 PMID:29272804 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29920680 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30678510 PMID:30843307 PMID:30860128 PMID:30936349 PMID:31147703 PMID:31164858 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32161153 PMID:32234506 PMID:32445240 PMID:32502631 PMID:32504279 PMID:32567010 PMID:32964447 PMID:33396418 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34288125 PMID:34445196 PMID:34490615 PMID:34732400 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35298342 PMID:35350396 PMID:35641312 PMID:35699875 PMID:35760101 PMID:35790454 PMID:35799515 PMID:35860755 PMID:36065636 PMID:36332611 PMID:36342673 PMID:36403551 PMID:36658419 PMID:36703500 PMID:36987741 PMID:37091313 PMID:37184518 PMID:37189790 PMID:38772265 PMID:38845467 More...
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NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
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G |
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:26238252 PMID:26395190 PMID:27159321 PMID:27350610 PMID:27412952 PMID:27843092 PMID:28492532 PMID:28939701 PMID:29071585 PMID:29671881 PMID:31506229 PMID:31568715 PMID:32576985 More...
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NCBI chr13:78,865,327...78,912,235
Ensembl chr13:78,865,765...78,912,601
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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 8:97,055,111...97,091,980
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G |
SCO1 |
SCO1, cytochrome c oxidase assembly protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17182746 |
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NCBI chr16:10,021,480...10,036,920
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G |
SLC25A4 |
solute carrier family 25 member 4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:27693233 PMID:28492532 PMID:32827528 |
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NCBI chr 7:131,102,077...131,106,076
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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 chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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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 |
PMID:25741868 |
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NCBI chr 6:7,123,564...7,133,459
Ensembl chr 6:7,123,597...7,133,460
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G |
TIMM50 |
translocase of inner mitochondrial membrane 50 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30190335 PMID:38828998 |
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NCBI chr 6:34,089,043...34,098,574
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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 1:76,869,434...76,876,282
Ensembl chr 1:76,869,431...76,876,342
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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 chr16:17,315,466...17,358,863
Ensembl chr16:17,316,048...17,358,580
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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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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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 Annotator: match by term: mitochondrial disorder |
ClinVar |
PMID:25741868 PMID:27132592 PMID:33886802 PMID:34489609 |
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NCBI chr22:79,307,124...79,311,496
Ensembl chr22:79,307,444...79,308,658
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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 chr16:15,632,017...15,662,857
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G |
TWNK |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder |
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:20818383 PMID:20880070 PMID:24076137 PMID:24086434 PMID:25741868 PMID:26467025 PMID:26469001 PMID:27650058 PMID:28492532 PMID:28812649 PMID:30496414 PMID:31055809 PMID:32161153 PMID:34732400 PMID:35289132 More...
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NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164
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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 chr11:32,181,214...32,192,654
Ensembl chr11:32,181,397...32,192,454
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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 chr13:87,363,527...87,378,002
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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 chr13:88,634,100...88,782,371
Ensembl chr13:88,640,548...88,781,702
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G |
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 chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220
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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 chr13:86,210,462...86,218,002
Ensembl chr13:86,210,465...86,217,956
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G |
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 chr13:86,342,954...86,399,827
Ensembl chr13:86,344,051...86,370,622
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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 chr13:86,720,558...86,868,978
Ensembl chr13:86,792,712...86,868,321
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G |
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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Ensembl chr13:85,771,630...85,782,646
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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 chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116
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G |
LPA |
lipoprotein(a) |
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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 chr13:88,077,041...88,337,256
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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 chr13:88,489,835...88,621,504
Ensembl chr13:88,490,200...88,620,992
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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 chr13:87,520,860...87,523,523
Ensembl chr13:87,521,947...87,523,098
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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 chr13:87,389,210...87,395,134
Ensembl chr13:87,389,702...87,394,866
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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 chr13:88,266,054...88,321,596
Ensembl chr13:88,268,198...88,322,644
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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 chr13:87,396,297...87,418,368
Ensembl chr13:87,397,636...87,422,594
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G |
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 chr13:88,856,056...90,329,379
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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 chr13:86,562,453...86,582,483
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SERAC1 |
serine active site containing 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related neurological disorder |
OMIM 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:29686941 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 PMID:37712079 More...
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NCBI chr13:85,711,101...85,770,010
Ensembl chr13:85,710,061...85,769,961
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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 chr13:87,744,600...87,780,846
Ensembl chr13:87,745,023...87,781,073
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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 chr13:87,835,077...87,881,410
Ensembl chr13:87,833,430...87,881,081
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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 chr13:87,971,305...88,076,468
Ensembl chr13:87,971,392...88,074,946
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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 chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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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 chr13:86,242,087...86,342,084
Ensembl chr13:86,242,109...86,341,818
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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 chr13:86,620,021...86,630,814
Ensembl chr13:86,620,046...86,630,956
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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 chr13:87,377,452...87,388,692
Ensembl chr13:87,377,996...87,388,568
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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 chr13:86,102,912...86,206,815
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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 chr13:85,881,735...86,088,074
Ensembl chr13:85,883,698...86,085,894
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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 chr13:87,328,228...87,357,868
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AQP4 |
aquaporin 4 |
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ISO |
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RGD |
PMID:20680636 |
RGD:5148026 |
NCBI chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156
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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 chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841
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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:17452773 PMID:17460694 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18546365 PMID:18991199 PMID:19010300 PMID:19538466 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:22189570 PMID:22237560 PMID:23430898 PMID:23524600 PMID:23783014 PMID:24033266 PMID:24086434 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:28958595 PMID:30423451 PMID:30451971 PMID:30634555 PMID:31655921 PMID:33486010 PMID:35478072 More...
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NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
susceptibility |
ISO |
ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy DNA:missense mutation:cds:p.P1073L (3218C>T) (human) |
OMIM ClinVar RGD |
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 PMID:2504279 PMID:2725645 PMID:7847370 PMID:9500334 PMID:9536098 PMID:11301032 PMID:11431686 PMID:11555352 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16682683 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17452773 PMID:17460694 PMID:17502560 PMID:17538929 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19221117 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19500334 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20400524 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20685647 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21167499 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21447491 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22215559 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22377773 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22805437 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22980518 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23430898 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23596069 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23830586 PMID:23836942 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24086434 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24194468 PMID:24259288 PMID:24265579 PMID:24266892 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:24986207 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25129007 PMID:25193669 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25412673 PMID:25429852 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25497598 PMID:25525159 PMID:25585994 PMID:25638290 PMID:25660390 PMID:25713120 PMID:25724872 PMID:25741868 PMID:25741916 PMID:25742477 PMID:25771874 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26132555 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26341968 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26640698 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27101133 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27349602 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27475922 PMID:27527004 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27854218 PMID:27917773 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28815208 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29420653 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29590070 PMID:29644085 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:29997391 PMID:30009132 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30385167 PMID:30393377 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30552426 PMID:30609409 PMID:30634555 PMID:30637288 PMID:30678510 PMID:30755392 PMID:30818899 PMID:30831263 PMID:30838265 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31075681 PMID:31085725 PMID:31130284 PMID:31147703 PMID:31164858 PMID:31209396 PMID:31359948 PMID:31425757 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31613174 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31731261 PMID:31762033 PMID:31765440 PMID:31799610 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32161153 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32347949 PMID:32348839 PMID:32364361 PMID:32382377 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32504279 PMID:32531456 PMID:32567010 PMID:32600829 PMID:32613234 PMID:32668698 PMID:32703289 PMID:32949115 PMID:32964447 PMID:33046616 PMID:33233646 PMID:33258288 PMID:33278787 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33484326 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33671400 PMID:33683010 PMID:33726816 PMID:33763395 PMID:33791913 PMID:33931544 PMID:33956154 PMID:34008892 PMID:34023347 PMID:34052969 PMID:34062649 PMID:34189666 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34445196 PMID:34490615 PMID:34504347 PMID:34504726 PMID:34670123 PMID:34690748 PMID:34732400 PMID:34777884 PMID:34782754 PMID:34803902 PMID:34927673 PMID:35101151 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35298342 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35488641 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35760101 PMID:35790454 PMID:35799515 PMID:35811315 PMID:35811324 PMID:35860755 PMID:35861376 PMID:36065636 PMID:36157077 PMID:36325100 PMID:36332611 PMID:36342673 PMID:36403551 PMID:36658419 PMID:36689859 PMID:36703223 PMID:36703500 PMID:36918699 PMID:36964972 PMID:36987741 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37189790 PMID:37256495 PMID:37301908 PMID:37349538 PMID:38012111 PMID:38294884 PMID:38772265 PMID:38845467 PMID:39118480 More...
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RGD:15039298 |
NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
|
|
G |
POLRMT |
RNA polymerase mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:358,865...377,007
Ensembl chr 6:358,917...377,089
|
|
G |
RANBP2 |
RAN binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735
|
|
G |
RLBP1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 |
|
NCBI chr29:7,756,742...7,769,061
Ensembl chr29:7,757,158...7,765,777
|
|
|
G |
FANCI |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
|
|
NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
|
|
G |
POLG |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
OMIM ClinVar |
PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:9536098 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17088268 PMID:17280874 PMID:17310215 PMID:17420318 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17538929 PMID:17576681 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24986207 PMID:25025039 PMID:25118206 PMID:25129007 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27101133 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27854218 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29590070 PMID:29655203 PMID:29913018 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30678510 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31147703 PMID:31164858 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31765440 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32161153 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32347949 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32949115 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33600046 PMID:33683010 PMID:33726816 PMID:33763395 PMID:33791913 PMID:33956154 PMID:34023347 PMID:34052969 PMID:34062649 PMID:34288125 PMID:34426522 PMID:34445196 PMID:34490615 PMID:34504347 PMID:34504726 PMID:34670123 PMID:34690748 PMID:34732400 PMID:34777884 PMID:34782754 PMID:34803902 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35298342 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35760101 PMID:35790454 PMID:35799515 PMID:35860755 PMID:35861376 PMID:36065636 PMID:36325100 PMID:36332611 PMID:36342673 PMID:36403551 PMID:36658419 PMID:36703223 PMID:36703500 PMID:36918699 PMID:36964972 PMID:36987741 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37189790 PMID:37256495 PMID:37349538 PMID:38012111 PMID:38294884 PMID:38772265 PMID:38845467 More...
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|
NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
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G |
TWNK |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
ClinVar |
PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 PMID:28492532 More...
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|
NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164
|
|
|
G |
SLC25A4 |
solute carrier family 25 member 4 |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
OMIM ClinVar |
PMID:8644740 PMID:9207786 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 PMID:16155110 PMID:21549803 PMID:22497660 PMID:23401503 PMID:25732997 PMID:25741868 PMID:26265630 PMID:26467025 PMID:27693233 PMID:28492532 PMID:28823815 PMID:29654543 PMID:29892051 PMID:30174309 PMID:31028937 PMID:33923309 More...
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|
NCBI chr 7:131,102,077...131,106,076
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|
|
G |
TWNK |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
OMIM ClinVar |
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 PMID:12872260 PMID:15668446 PMID:16639411 PMID:17272269 PMID:17614277 PMID:17620490 PMID:18279890 PMID:18575922 PMID:18971204 PMID:18973250 PMID:19084593 PMID:19353676 PMID:19428252 PMID:19513767 PMID:20301746 PMID:20479361 PMID:20659899 PMID:20880070 PMID:21689831 PMID:24014582 PMID:24018892 PMID:24076137 PMID:24086434 PMID:25133958 PMID:25355836 PMID:25741868 PMID:25989649 PMID:26206283 PMID:26467025 PMID:26469001 PMID:26970254 PMID:27551684 PMID:28178980 PMID:28454995 PMID:28492532 PMID:28812649 PMID:29458409 PMID:30496414 PMID:30770810 PMID:30799093 PMID:31271879 PMID:31852434 PMID:32161153 PMID:32619254 PMID:33095980 PMID:34409151 PMID:34732400 PMID:35011763 PMID:35286480 PMID:35289132 PMID:35641312 PMID:36099812 PMID:37302426 PMID:37349538 More...
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|
NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164
|
|
|
G |
MILR1 |
mast cell immunoglobulin like receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
ClinVar |
PMID:9536098 PMID:16685652 PMID:17576681 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 More...
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|
NCBI chr16:56,799,089...56,827,030
Ensembl chr16:56,809,159...56,826,567
|
|
G |
POLG2 |
DNA polymerase gamma 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
OMIM ClinVar |
PMID:9536098 PMID:16685652 PMID:17576681 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 More...
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|
NCBI chr16:56,773,867...56,794,571
Ensembl chr16:56,776,330...56,794,654
|
|
|
G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
OMIM ClinVar |
PMID:8130196 PMID:12859174 PMID:17486094 PMID:18504129 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 PMID:24086434 PMID:24741716 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:29241262 PMID:31462754 PMID:31521625 PMID:31794469 PMID:33144682 PMID:34706366 PMID:38991193 More...
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|
NCBI chr 8:97,055,111...97,091,980
|
|
|
G |
DNA2 |
DNA replication helicase/nuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy |
OMIM ClinVar |
PMID:23352259 PMID:25741868 PMID:28492532 PMID:31478350 |
|
NCBI chr 9:62,926,221...62,985,843
Ensembl chr 9:62,926,674...62,985,842
|
|
|
G |
FANCI |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
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NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
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G |
LOC103246803 |
mismatch repair endonuclease PMS2 |
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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 chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 |
OMIM ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:16957900 PMID:17088268 PMID:17280874 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24986207 PMID:25025039 PMID:25118206 PMID:25129007 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27854218 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28865037 PMID:28958595 PMID:29029963 PMID:29214156 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30678510 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31164858 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31762033 PMID:31765440 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32949115 PMID:32964447 PMID:33046616 PMID:33233646 PMID:33258288 PMID:33396418 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33683010 PMID:33726816 PMID:33763395 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34023347 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34445196 PMID:34490615 PMID:34504347 PMID:34504726 PMID:34670123 PMID:34690748 PMID:34732400 PMID:34782754 PMID:34803902 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35298342 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35790454 PMID:35799515 PMID:35860755 PMID:35861376 PMID:36065636 PMID:36325100 PMID:36332611 PMID:36342673 PMID:36403551 PMID:36658419 PMID:36703223 PMID:36703500 PMID:36918699 PMID:36964972 PMID:36987741 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37189790 PMID:37256495 PMID:38012111 PMID:38294884 PMID:38772265 PMID:38845467 More...
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NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
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G |
RNASEH1 |
ribonuclease H1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | ClinVar Annotator: match by term: RNASEH1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 |
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NCBI chr14:104,095,771...104,111,051
Ensembl chr14:104,095,795...104,114,987
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G |
TK2 |
thymidine kinase 2 |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | ClinVar Annotator: match by term: TK2-related condition |
OMIM ClinVar |
PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 PMID:15639197 PMID:15907288 PMID:16504786 PMID:16908738 PMID:18508266 PMID:18819985 PMID:19265691 PMID:21937588 PMID:22345218 PMID:23303857 PMID:23932787 PMID:23963299 PMID:24033266 PMID:24484525 PMID:25326635 PMID:25446393 PMID:25741868 PMID:25948719 PMID:26224072 PMID:26467025 PMID:26925861 PMID:27839525 PMID:28207748 PMID:28492532 PMID:28812460 PMID:29602790 PMID:29735374 PMID:29783828 PMID:33013660 PMID:35289132 PMID:38177409 More...
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NCBI chr 5:52,202,040...52,272,428
Ensembl chr 5:52,204,605...52,243,017
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G |
DGUOK |
deoxyguanosine kinase |
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ISO |
ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
OMIM ClinVar |
PMID:9536098 PMID:11983456 PMID:12205643 PMID:14568816 PMID:14623087 PMID:16263314 PMID:16908739 PMID:17073823 PMID:17452231 PMID:17576681 PMID:18205204 PMID:19103789 PMID:19125351 PMID:19265691 PMID:23043144 PMID:24321534 PMID:24423689 PMID:24642831 PMID:25131622 PMID:25741868 PMID:26874653 PMID:27324545 PMID:28492532 PMID:28493820 PMID:28902392 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30366773 PMID:30393377 PMID:30589726 PMID:30956829 PMID:31664448 PMID:32482602 More...
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NCBI chr14:33,320,957...33,356,088
Ensembl chr14:33,320,969...33,356,093
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G |
TOP3A |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 |
OMIM ClinVar |
PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:36544354 PMID:37013609 More...
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NCBI chr16:17,315,466...17,358,863
Ensembl chr16:17,316,048...17,358,580
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G |
RRM1 |
ribonucleotide reductase catalytic subunit M1 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder |
OMIM ClinVar |
PMID:25741868 PMID:35617047 |
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NCBI chr 1:62,606,112...62,649,979
Ensembl chr 1:62,604,486...62,650,200
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G |
BCS1L |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22277967 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:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30311386 PMID:30582773 PMID:30634555 PMID:31316545 PMID:31435670 PMID:32581362 PMID:33511646 PMID:34650211 PMID:34662929 More...
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NCBI chr10:104,563,912...104,567,706
Ensembl chr10:104,565,184...104,568,099
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G |
CPS1 |
carbamoyl-phosphate synthase 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Congenital hyperammonemia, type I |
ClinVar OMIM |
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11407344 PMID:11474210 PMID:11536261 PMID:12655559 PMID:12955727 PMID:14718356 PMID:15050969 PMID:15164414 PMID:15465784 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16708072 PMID:16737834 PMID:17310273 PMID:17357079 PMID:17576681 PMID:18414213 PMID:18666241 PMID:19167850 PMID:19309799 PMID:19684305 PMID:19793055 PMID:20154341 PMID:20578160 PMID:20800523 PMID:20855223 PMID:21068339 PMID:21108709 PMID:21120950 PMID:21767969 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:32537019 PMID:32670798 PMID:32718099 PMID:32934962 PMID:33190319 PMID:33309754 PMID:33309854 PMID:33489762 PMID:33551825 PMID:33611823 PMID:33851512 PMID:33924653 PMID:34014557 PMID:34298581 PMID:34440436 PMID:34670888 PMID:34970092 PMID:35003817 PMID:36340787 More...
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NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206
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G |
LOC103226816 |
ATP-binding cassette sub-family A member 3 |
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ISO |
ClinVar Annotator: match by term: Congenital hyperammonemia, type I |
ClinVar |
PMID:24871971 PMID:25741868 PMID:28492532 PMID:31130284 |
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NCBI chr 5:2,171,487...2,218,851
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G |
CPT2 |
carnitine palmitoyltransferase 2 |
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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 |
OMIM ClinVar |
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9536098 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10607472 PMID:10734268 PMID:10862092 PMID:10868782 PMID:10873395 PMID:11257506 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:12809643 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16199547 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17576681 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:20830526 PMID:20934285 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22854105 PMID:22899091 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 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:26010953 PMID:26467025 PMID:26477380 PMID:27067077 PMID:27123472 PMID:27525900 PMID:27578510 PMID:27629963 PMID:27974123 PMID:28492532 PMID:28516040 PMID:28529889 PMID:28600779 PMID:28779239 PMID:28801073 PMID:28871440 PMID:29429925 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30293990 PMID:30455135 PMID:30476936 PMID:30609409 PMID:30957255 PMID:31372341 PMID:31501239 PMID:31770251 PMID:32295037 PMID:32411386 PMID:32489884 PMID:32528171 PMID:33123633 PMID:33532864 PMID:34063237 PMID:34112556 More...
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NCBI chr20:79,710,638...79,728,100
Ensembl chr20:79,706,584...79,727,689
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G |
FANCI |
FA complementation group I |
|
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:22237560 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28130605 PMID:28492532 PMID:30451971 More...
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NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:16957900 PMID:17088268 PMID:17280874 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22084276 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24986207 PMID:25025039 PMID:25118206 PMID:25129007 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27854218 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28865037 PMID:28958595 PMID:29029963 PMID:29214156 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30678510 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31164858 PMID:31440721 PMID:31475037 PMID:31521625 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31694722 PMID:31762033 PMID:31765440 PMID:31980526 PMID:31996268 PMID:32005694 PMID:32019516 PMID:32042919 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:32949115 PMID:32964447 PMID:33046616 PMID:33233646 PMID:33396418 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33683010 PMID:33726816 PMID:33763395 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34023347 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34288125 PMID:34426522 PMID:34445196 PMID:34490615 PMID:34504347 PMID:34504726 PMID:34670123 PMID:34690748 PMID:34732400 PMID:34782754 PMID:34803902 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35289132 PMID:35298342 PMID:35307828 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35790454 PMID:35799515 PMID:35860755 PMID:35861376 PMID:36065636 PMID:36325100 PMID:36332611 PMID:36342673 PMID:36403551 PMID:36658419 PMID:36703223 PMID:36703500 PMID:36918699 PMID:36964972 PMID:36987741 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37189790 PMID:37256495 PMID:38012111 PMID:38294884 PMID:38772265 PMID:38845467 More...
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NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
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G |
FXN |
frataxin |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth-like disease |
ClinVar |
PMID:25741868 PMID:31673878 |
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NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168
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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 chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
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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 chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
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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 chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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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 chr16:56,799,089...56,827,030
Ensembl chr16:56,809,159...56,826,567
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human) DNA:mutations:cds: DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) |
CTD RGD |
PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 PMID:17923349 More...
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RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 |
NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
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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 chr16:56,773,867...56,794,571
Ensembl chr16:56,776,330...56,794,654
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G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | 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 8:97,055,111...97,091,980
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G |
SLC25A4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions |
ClinVar |
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NCBI chr 7:131,102,077...131,106,076
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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 chr 2:60,461,219...60,472,999
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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 chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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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 |
RGD ClinVar |
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:35289132 PMID:35982159 More...
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RGD:1600544 |
NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164
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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 chr12:47,239,094...47,346,528
Ensembl chr12:47,258,798...47,287,102
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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 PMID:33187544 PMID:35483523 More...
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NCBI chr 7:31,656,294...31,677,423
Ensembl chr 7:31,656,670...31,677,274
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G |
COQ8A |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type |
ClinVar |
PMID:18319074 PMID:19440741 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26764160 PMID:27535533 PMID:27884173 PMID:28492532 PMID:29255295 PMID:32337771 PMID:32958805 More...
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NCBI chr25:2,780,593...2,827,565
Ensembl chr25:2,779,504...2,826,538
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G |
COQ9 |
coenzyme Q9 |
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ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
ClinVar |
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NCBI chr 5:43,378,467...43,393,037
Ensembl chr 5:43,378,539...43,392,384
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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 chr 9:26,322,083...26,379,493
Ensembl chr 9:26,323,478...26,377,415
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G |
PDSS2 |
decaprenyl diphosphate synthase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
ClinVar |
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NCBI chr13:66,405,014...66,704,559
Ensembl chr13:66,405,521...66,704,696
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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 chr17:27,855,688...27,869,427
Ensembl chr17:27,855,713...27,870,409
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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:37091313 More...
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NCBI chr X:105,383,408...105,419,146
Ensembl chr X:105,382,693...105,419,095
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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 5:21,248,866...21,282,725
Ensembl chr 5:21,251,224...21,282,966
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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 chr15:32,153,650...32,198,393
Ensembl chr15:32,150,607...32,198,396
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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 5:21,190,080...21,237,204
Ensembl chr 5:21,193,328...21,237,521
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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 chr 9:58,020,526...58,022,393
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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 chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532
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G |
MTO1 |
mitochondrial tRNA translation optimization 1 |
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ISO |
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 chr17:1,650,818...1,688,362
Ensembl chr17:1,651,011...1,688,321
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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 chr11:118,576,548...118,599,035
Ensembl chr11:118,576,618...118,598,106
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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 |
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NCBI chr17:28,637,868...28,649,898
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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:37091313 More...
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NCBI chr X:105,421,709...105,437,206
Ensembl chr X:105,424,290...105,437,169
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G |
TAMM41 |
TAM41 mitochondrial translocator assembly and maintenance homolog |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency |
ClinVar |
PMID:25741868 PMID:35321494 |
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NCBI chr22:47,798,325...47,855,262
Ensembl chr22:47,798,290...47,854,946
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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 chr11:53,696,197...53,714,949
Ensembl chr11:53,696,228...53,708,957
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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:25741868 PMID:28492532 |
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NCBI chr 5:26,221,203...26,225,080
Ensembl chr 5:26,221,337...26,225,083
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G |
GFM1 |
G elongation factor mitochondrial 1 |
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ISO |
ClinVar Annotator: match by term: GFM1-related condition | ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
OMIM 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:25326637 PMID:25741868 PMID:25852744 PMID:28216230 PMID:28492532 PMID:31680380 PMID:31683770 PMID:32313153 PMID:32746448 PMID:32776492 PMID:33093908 PMID:33176815 PMID:33210482 PMID:35703069 More...
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NCBI chr15:32,153,650...32,198,393
Ensembl chr15:32,150,607...32,198,396
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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:25741868 PMID:28492532 PMID:29075935 |
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NCBI chr 4:69,065,841...69,114,724
Ensembl chr 4:69,066,293...69,114,508
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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 chr10:109,904,050...109,912,043
Ensembl chr10:109,904,076...109,912,341
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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 chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532
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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 1:69,647,713...69,778,390
Ensembl chr 1:69,643,531...69,778,361
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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 chr17:41,537,842...41,550,063
Ensembl chr17:41,534,552...41,549,439
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G |
EEF1A1 |
eukaryotic translation elongation factor 1 alpha 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr17:1,626,701...1,630,445
Ensembl chr17:1,627,901...1,630,150
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G |
MTO1 |
mitochondrial tRNA translation optimization 1 |
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ISO |
ClinVar Annotator: match by term: MTO1-related condition | ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22494076 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:31589614 PMID:31842146 PMID:33258288 PMID:33586140 PMID:34990597 More...
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NCBI chr17:1,650,818...1,688,362
Ensembl chr17:1,651,011...1,688,321
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RMND1 |
required for meiotic nuclear division 1 homolog |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 | ClinVar Annotator: match by term: RMND1-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18835491 PMID:23022098 PMID:23022099 PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 PMID:26238252 PMID:26395190 PMID:27159321 PMID:27350610 PMID:27412952 PMID:27843092 PMID:28492532 PMID:28939701 PMID:29071585 PMID:29671881 PMID:31506229 PMID:31568715 PMID:31981491 PMID:32576985 More...
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NCBI chr13:78,865,327...78,912,235
Ensembl chr13:78,865,765...78,912,601
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EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: EARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22492562 PMID:23008233 PMID:24706556 PMID:25058219 PMID:25476837 PMID:25741868 PMID:26741492 PMID:26780086 PMID:26893310 PMID:27117034 PMID:27290639 PMID:28492532 PMID:28748214 PMID:28748215 PMID:28973083 PMID:30831263 PMID:31520968 PMID:31665838 PMID:31980526 PMID:32887222 PMID:33128823 PMID:33258288 PMID:33855712 PMID:33962821 PMID:33972171 PMID:34018027 PMID:34440436 PMID:36349561 PMID:37377599 More...
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NCBI chr 5:21,248,866...21,282,725
Ensembl chr 5:21,251,224...21,282,966
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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 5:21,190,080...21,237,204
Ensembl chr 5:21,193,328...21,237,521
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PNPT1 |
polyribonucleotide nucleotidyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13 |
OMIM ClinVar |
PMID:9536098 PMID:11080643 PMID:16199547 PMID:17576681 PMID:23084291 PMID:24088041 PMID:25326635 PMID:25457163 PMID:25741868 PMID:26633542 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 PMID:34440436 PMID:34740920 PMID:36147510 More...
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NCBI chr14:51,211,385...51,267,706
Ensembl chr14:51,211,118...51,267,098
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F13A1 |
coagulation factor XIII A 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 chr17:65,885,498...66,040,026
Ensembl chr17:65,885,658...66,040,040
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FARS2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 |
OMIM 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:29691679 PMID:30177229 PMID:30250868 PMID:30634555 PMID:30869852 PMID:31106652 PMID:31329004 PMID:31665838 PMID:31692161 PMID:32007496 PMID:32597768 PMID:32774346 PMID:32989326 PMID:33168986 PMID:33176815 PMID:33972171 PMID:36531778 PMID:37523899 PMID:38166857 More...
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NCBI chr17:66,356,479...66,921,276
Ensembl chr17:66,543,452...66,898,446
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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 chr17:66,921,386...67,077,331
Ensembl chr17:66,921,596...67,076,843
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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 chr17:66,187,338...66,196,928
Ensembl chr17:66,187,723...66,196,934
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MTFMT |
mitochondrial methionyl-tRNA formyltransferase |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15 | ClinVar Annotator: match by term: MTFMT-related condition |
OMIM ClinVar |
PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 PMID:30087118 PMID:30369941 PMID:30569017 PMID:30911575 PMID:32577402 PMID:33146414 PMID:34732400 PMID:36704074 PMID:36873085 More...
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NCBI chr26:18,556,747...18,583,528
Ensembl chr26:18,556,791...18,583,446
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MRPL44 |
mitochondrial ribosomal protein L44 |
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ISO |
ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | ClinVar Annotator: match by term: MRPL44-related condition |
OMIM 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 chr10:109,904,050...109,912,043
Ensembl chr10:109,904,076...109,912,341
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ELAC2 |
elaC ribonuclease Z 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 | ClinVar Annotator: match by term: ELAC2-related condition |
ClinVar OMIM |
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:29302266 PMID:30094188 PMID:30217939 PMID:31045291 PMID:32685970 PMID:32870709 PMID:34056100 PMID:34732400 More...
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NCBI chr16:12,328,864...12,353,916
Ensembl chr16:12,329,300...12,353,872
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SFXN4 |
sideroflexin 4 |
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ISO |
ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | ClinVar Annotator: match by term: SFXN4-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24119684 PMID:25741868 PMID:28492532 |
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NCBI chr 9:111,932,754...111,955,849
Ensembl chr 9:111,933,083...111,955,833
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FARS2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 | ClinVar Annotator: match by term: LYRM4-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:66,356,479...66,921,276
Ensembl chr17:66,543,452...66,898,446
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LYRM4 |
LYR motif containing 4 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 | ClinVar Annotator: match by term: LYRM4-related condition |
OMIM ClinVar |
PMID:23814038 PMID:25741868 PMID:28492532 |
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NCBI chr17:66,921,386...67,077,331
Ensembl chr17:66,921,596...67,076,843
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MRPS16 |
mitochondrial ribosomal protein S16 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 | ClinVar Annotator: match by term: MRPS16-related condition |
OMIM ClinVar |
PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 |
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NCBI chr 9:58,020,526...58,022,393
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VARS2 |
valyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related condition |
OMIM ClinVar |
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:33937156 PMID:34216551 PMID:34362006 PMID:34484863 More...
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NCBI chr17:41,537,842...41,550,063
Ensembl chr17:41,534,552...41,549,439
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TARS2 |
threonyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 | ClinVar Annotator: match by term: TARS2-related condition |
OMIM ClinVar |
PMID:24827421 PMID:25741868 PMID:28492532 PMID:33153448 PMID:34508595 PMID:37454282 More...
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ATP5F1A |
ATP synthase F1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: ATP5F1A-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 |
OMIM ClinVar |
PMID:23596069 PMID:25741868 PMID:28492532 PMID:34954817 |
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NCBI chr18:34,815,924...34,828,052
Ensembl chr18:34,816,027...34,830,924
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GTPBP3 |
GTP binding protein 3, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 | ClinVar Annotator: match by term: GTPBP3-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25434004 PMID:25741868 PMID:28492532 PMID:33619562 More...
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NCBI chr 6:15,844,678...15,847,517
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NARS2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22237560 PMID:25385316 PMID:25629079 PMID:25741868 PMID:25807530 PMID:26402642 PMID:26467025 PMID:28077841 PMID:28492532 PMID:30327238 PMID:31665838 PMID:32488467 PMID:34374940 PMID:34415467 PMID:35014173 PMID:35094435 PMID:35558980 PMID:36675121 PMID:36918699 More...
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NCBI chr 1:69,647,713...69,778,390
Ensembl chr 1:69,643,531...69,778,361
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MARS2 |
methionyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 | ClinVar Annotator: match by term: MARS2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25754315 PMID:28492532 |
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NCBI chr10:83,186,370...83,193,464
Ensembl chr10:83,187,344...83,189,125
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TRMT5 |
tRNA methyltransferase 5 |
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ISO |
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 | ClinVar Annotator: match by term: TRMT5-related condition |
OMIM ClinVar |
PMID:2544623 PMID:25741868 PMID:26189817 PMID:28492532 PMID:29021354 PMID:31038196 PMID:35342985 More...
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NCBI chr24:38,164,262...38,173,917
Ensembl chr24:38,167,915...38,174,140
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CARS2 |
cysteinyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25361775 PMID:25640679 PMID:25741868 PMID:25787132 PMID:26257172 PMID:28492532 PMID:30139652 PMID:31665838 PMID:32571458 PMID:34426522 PMID:34690748 PMID:34704010 PMID:36360262 PMID:37151360 More...
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NCBI chr 3:88,871,338...88,929,454
Ensembl chr 3:88,871,460...88,929,436
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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 chr 3:88,845,564...88,870,176
Ensembl chr 3:88,845,487...88,868,411
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SLC25A26 |
solute carrier family 25 member 26 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 | ClinVar Annotator: match by term: SLC25A26-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26522469 PMID:28492532 |
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NCBI chr22:27,233,997...27,401,529
Ensembl chr22:27,233,991...27,400,565
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TXN2 |
thioredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 | ClinVar Annotator: match by term: TXN2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26626369 PMID:28492532 |
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NCBI chr19:19,168,693...19,185,898
Ensembl chr19:19,169,286...19,185,735
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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 chr11:53,708,969...53,732,219
Ensembl chr11:53,707,566...53,728,894
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TSFM |
Ts translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25078778 PMID:25741868 PMID:27677415 PMID:28074886 PMID:28492532 PMID:29261183 PMID:30911037 PMID:31267352 PMID:33816677 More...
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NCBI chr11:53,696,197...53,714,949
Ensembl chr11:53,696,228...53,708,957
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TRMT10C |
tRNA methyltransferase 10C, mitochondrial RNase P subunit |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 | ClinVar Annotator: match by term: TRMT10C-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27132592 PMID:28492532 PMID:33886802 PMID:34489609 |
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NCBI chr22:79,307,124...79,311,496
Ensembl chr22:79,307,444...79,308,658
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MIPEP |
mitochondrial intermediate peptidase |
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ISO |
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 PMID:28492532 PMID:33587123 PMID:34620555 PMID:36413997 More...
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NCBI chr 3:3,578,057...3,726,783
Ensembl chr 3:3,578,193...3,726,746
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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 Annotator: match by term: MRPS34-related condition |
ClinVar |
PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 PMID:28777931 PMID:35326425 PMID:37385809 More...
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NCBI chr 5:1,682,232...1,685,863
Ensembl chr 5:1,682,249...1,685,260
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MRPS34 |
mitochondrial ribosomal protein S34 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 | ClinVar Annotator: match by term: MRPS34-related condition |
OMIM ClinVar |
PMID:2877793 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 PMID:28777931 PMID:32445240 PMID:34052969 PMID:35326425 PMID:37385809 More...
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NCBI chr 5:1,680,898...1,682,159
Ensembl chr 5:1,681,228...1,682,151
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C1QBP |
complement C1q binding protein |
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ISO |
ClinVar Annotator: match by term: C1QBP-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 33 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28942965 PMID:32652806 PMID:34003581 More...
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NCBI chr16:4,843,202...4,850,639
Ensembl chr16:4,843,438...4,850,600
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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 Annotator: match by term: MRPS7-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:46,410,941...46,432,560
Ensembl chr16:46,411,391...46,432,991
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MRPS7 |
mitochondrial ribosomal protein S7 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 | ClinVar Annotator: match by term: MRPS7-related condition |
OMIM ClinVar |
PMID:9063420 PMID:25556185 PMID:25741868 PMID:28492532 |
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NCBI chr16:46,407,080...46,411,753
Ensembl chr16:46,404,792...46,412,037
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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 | ClinVar Annotator: match by term: TRIT1-related condition |
OMIM ClinVar |
PMID:24901367 PMID:25741868 PMID:25954003 PMID:26381753 PMID:27618451 PMID:28185376 PMID:28490743 PMID:28492532 PMID:30977854 PMID:31140736 PMID:32088416 PMID:32324744 PMID:32948376 PMID:34052969 PMID:36047296 PMID:36049610 More...
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NCBI chr20:93,017,385...93,065,601
Ensembl chr20:93,017,428...93,064,904
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MRPS2 |
mitochondrial ribosomal protein S2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 | ClinVar Annotator: match by term: MRPS2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29576219 |
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NCBI chr12:2,665,725...2,669,478
Ensembl chr12:2,665,620...2,669,407
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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: MICOS13-related condition | ClinVar Annotator: match by term: Mitochondrial hepato-encephalopathy |
OMIM ClinVar |
PMID:25741868 PMID:27485409 PMID:27623147 PMID:28492532 PMID:29618761 |
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NCBI chr 6:5,326,821...5,338,848
Ensembl chr 6:5,335,730...5,338,432
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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 Annotator: match by term: MRPS14-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30358850 |
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NCBI chr25:54,231,605...54,240,724
Ensembl chr25:54,231,643...54,240,472
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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 | ClinVar Annotator: match by term: GFM2-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22700954 PMID:25741868 PMID:26016410 PMID:28492532 PMID:29075935 More...
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NCBI chr 4:69,065,841...69,114,724
Ensembl chr 4:69,066,293...69,114,508
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TUFM |
Tu translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4 | ClinVar Annotator: match by term: TUFM-related condition |
OMIM ClinVar |
PMID:17160893 PMID:19524667 PMID:20435138 PMID:25741868 PMID:26741492 PMID:28492532 More...
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NCBI chr 5:26,221,203...26,225,080
Ensembl chr 5:26,221,337...26,225,083
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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 chr13:67,153,372...67,188,775
Ensembl chr13:67,151,437...67,189,662
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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 chr13:67,188,707...67,243,288
Ensembl chr13:67,189,318...67,243,925
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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 | ClinVar Annotator: match by term: GATB-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30283131 |
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NCBI chr 7:98,245,646...98,331,083
Ensembl chr 7:98,245,968...98,331,082
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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 chr11:115,800,928...115,813,142
Ensembl chr11:115,800,949...115,812,555
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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 chr16:724,724...731,212
Ensembl chr16:724,449...730,141
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FASTKD2 |
FAST kinase domains 2 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 | ClinVar Annotator: match by term: FASTKD2-related condition |
OMIM ClinVar |
PMID:18771761 PMID:25326635 PMID:25497598 PMID:25741868 PMID:25842391 PMID:28492532 PMID:28499982 PMID:31944455 PMID:34277355 PMID:36712458 More...
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NCBI chr10:92,550,245...92,585,250
Ensembl chr10:92,549,883...92,587,039
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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 Annotator: match by term: MRPL12-related condition |
OMIM ClinVar |
PMID:23603806 |
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NCBI chr16:73,633,786...73,639,142
Ensembl chr16:73,633,918...73,638,902
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MRPS23 |
mitochondrial ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 46 | ClinVar Annotator: match by term: MRPS23-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26741492 PMID:28492532 |
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NCBI chr16:35,550,023...35,560,259
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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:25741868 PMID:27356879 PMID:28492532 PMID:32671698 |
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NCBI chr22:86,576,985...86,643,030
Ensembl chr22:86,577,280...86,642,653
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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 chr16:17,301,133...17,306,791
Ensembl chr16:17,301,629...17,308,780
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MRPS22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 | ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia | ClinVar Annotator: match by term: MRPS22-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:17873122 PMID:18539099 PMID:21189481 PMID:25663021 PMID:25741868 PMID:28492532 PMID:28752220 PMID:29096039 PMID:31683770 PMID:36349561 More...
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NCBI chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532
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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 chr22:50,985,398...50,997,596
Ensembl chr22:50,984,775...50,997,581
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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 PMID:36450274 |
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NCBI chr14:21,019,249...21,050,453
Ensembl chr14:21,015,333...21,050,453
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NFS1 |
NFS1 cysteine desulfurase |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 | ClinVar Annotator: match by term: NFS1-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24498631 PMID:25741868 PMID:28492532 PMID:33457206 |
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NCBI chr 2:56,592,304...56,617,510
Ensembl chr 2:56,592,308...56,617,469
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CUNH2orf69 |
chromosome unknown C2orf69 homolog |
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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 chr10:85,412,119...85,428,373
Ensembl chr10:85,412,287...85,425,998
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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 | ClinVar Annotator: match by term: PRORP-related condition |
OMIM ClinVar |
PMID:25741868 PMID:34715011 PMID:37558808 |
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NCBI chr24:11,936,410...12,081,721
Ensembl chr24:11,936,410...12,083,519
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POLRMT |
RNA polymerase mitochondrial |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 | ClinVar Annotator: match by term: POLRMT-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33602924 |
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NCBI chr 6:358,865...377,007
Ensembl chr 6:358,917...377,089
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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 | ClinVar Annotator: match by term: TAMM41-related condition |
OMIM ClinVar |
PMID:25741868 PMID:35321494 |
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NCBI chr22:47,798,325...47,855,262
Ensembl chr22:47,798,290...47,854,946
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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 2:32,094,610...32,127,186
Ensembl chr 2:32,091,519...32,127,170
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TEFM |
transcription elongation factor, mitochondrial |
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ISO |
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OMIM |
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NCBI chr16:25,601,744...25,609,071
Ensembl chr16:25,601,941...25,608,209
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MRPL39 |
mitochondrial ribosomal protein L39 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 59 |
OMIM ClinVar |
PMID:8602753 PMID:25741868 PMID:37133451 |
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NCBI chr 2:66,666,083...66,902,386
Ensembl chr 2:66,666,728...66,686,353
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AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
OMIM ClinVar |
PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 PMID:25741868 PMID:25986071 PMID:26173962 PMID:26467025 PMID:28492532 PMID:31850270 More...
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NCBI chr X:105,383,408...105,419,146
Ensembl chr X:105,382,693...105,419,095
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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:25986071 PMID:26173962 PMID:26467025 PMID:28492532 PMID:31850270 More...
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NCBI chr X:105,421,709...105,437,206
Ensembl chr X:105,424,290...105,437,169
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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 chr11:118,496,485...118,576,904
Ensembl chr11:118,495,466...118,574,162
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MTRFR |
mitochondrial translation release factor in rescue |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
OMIM ClinVar |
PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25058219 PMID:25326635 PMID:25741868 PMID:26380172 PMID:26539891 PMID:27858754 PMID:28091420 PMID:28251916 PMID:28492532 PMID:30369941 PMID:31694722 PMID:31753091 PMID:32478789 PMID:32581362 PMID:34440436 PMID:34732400 More...
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NCBI chr11:118,576,548...118,599,035
Ensembl chr11:118,576,618...118,598,106
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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 |
OMIM ClinVar |
PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 PMID:27749956 PMID:27839525 PMID:28492532 PMID:28633377 PMID:29440775 PMID:29749055 PMID:29971983 PMID:30054184 PMID:30285085 PMID:30819764 PMID:31099476 PMID:31106991 PMID:31885218 PMID:32080176 PMID:35305867 PMID:37377599 More...
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NCBI chr17:27,855,688...27,869,427
Ensembl chr17:27,855,713...27,870,409
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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:25741868 PMID:37377599 |
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NCBI chr17:28,637,868...28,649,898
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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 1:103,443,666...103,452,681
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MRPL3 |
mitochondrial ribosomal protein L3 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 | ClinVar Annotator: match by term: MRPL3-related condition |
OMIM ClinVar |
PMID:21786366 PMID:25741868 PMID:27815843 PMID:28492532 |
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NCBI chr15:58,732,262...58,772,638
Ensembl chr15:58,732,268...58,772,538
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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 chr19:32,978,771...32,995,055
Ensembl chr19:32,978,562...32,997,160
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SCO2 |
SCO2, cytochrome c oxidase assembly protein |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency |
ClinVar |
PMID:10545952 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18924171 PMID:19879173 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25741868 PMID:26467025 PMID:27290639 PMID:28492532 PMID:28798025 PMID:29193756 PMID:29351582 PMID:31589614 PMID:31623504 PMID:32668698 PMID:33098801 PMID:34426522 PMID:34691145 More...
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NCBI chr19:32,995,153...32,997,249
Ensembl chr19:32,995,196...32,995,996
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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 chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
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COX10 |
COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:12928484 PMID:22669974 PMID:23814038 PMID:24100867 PMID:25741868 PMID:28492532 PMID:32313153 PMID:39152498 More...
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NCBI chr16:13,410,654...13,550,922
Ensembl chr16:13,410,792...13,551,903
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COX20 |
COX20, cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:28492532 PMID:30656193 PMID:32304865 PMID:32606554 PMID:32827528 PMID:32999401 PMID:35651336 PMID:37095481 More...
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NCBI chr25:81,861,673...81,869,597
Ensembl chr25:81,862,035...81,869,506
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FASTKD2 |
FAST kinase domains 2 |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:25497598 PMID:25741868 PMID:25842391 PMID:28492532 |
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NCBI chr10:92,550,245...92,585,250
Ensembl chr10:92,549,883...92,587,039
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LOC103229762 |
cytochrome c oxidase assembly factor 8 |
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ISO |
ClinVar Annotator: match by term: COX deficiency |
ClinVar |
PMID:25175347 PMID:25741868 PMID:28492532 |
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NCBI chr24:81,503,069...81,533,578
Ensembl chr24:81,503,134...81,535,430
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LOC103233807 |
protein PET100 homolog, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 PMID:32313153 More...
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NCBI chr 6:7,116,233...7,118,101
Ensembl chr 6:7,116,314...7,118,030
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LOC103239687 |
surfeit locus protein 1 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 PMID:10647889 PMID:10746561 PMID:11317352 PMID:15214016 PMID:16199547 PMID:16542579 PMID:21937992 PMID:22488715 PMID:23806086 PMID:23829769 PMID:24027061 PMID:24088041 PMID:24462369 PMID:25111564 PMID:25741868 PMID:26257172 PMID:27756633 PMID:28492532 PMID:28639102 PMID:29933018 PMID:30872186 PMID:32445240 More...
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NCBI chr12:4,780,415...4,785,538
Ensembl chr12:4,780,568...4,785,385
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LOC103242353 |
cytochrome c oxidase subunit 6B1 |
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ISO |
ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:18499082 PMID:24781756 PMID:25741868 PMID:28492532 |
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NCBI chr16:7,611,114...7,611,617
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NCAPH2 |
non-SMC condensin II complex subunit H2 |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:23643385 PMID:25741868 PMID:28492532 |
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NCBI chr19:32,978,771...32,995,055
Ensembl chr19:32,978,562...32,997,160
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G |
SCO1 |
SCO1, cytochrome c oxidase assembly protein |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:10,021,480...10,036,920
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G |
SCO2 |
SCO2, cytochrome c oxidase assembly protein |
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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 chr19:32,995,153...32,997,249
Ensembl chr19:32,995,196...32,995,996
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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:28492532 PMID:31406627 PMID:32313153 More...
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NCBI chr 6:7,123,564...7,133,459
Ensembl chr 6:7,123,597...7,133,460
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TACO1 |
translational activator of cytochrome c oxidase 1 |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 |
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NCBI chr16:57,681,289...57,688,814
Ensembl chr16:57,680,423...57,688,712
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G |
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 chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
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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:89,690,569...89,727,420
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TIMM8A |
translocase of inner mitochondrial membrane 8A |
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ISO |
ClinVar Annotator: match by term: Deafness dystonia syndrome |
OMIM ClinVar |
PMID:8841189 PMID:9536098 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:11956200 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17576681 PMID:17851739 PMID:17936919 PMID:17999202 PMID:20301395 PMID:21984432 PMID:22736418 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 More...
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NCBI chr X:89,686,772...89,690,088
Ensembl chr X:89,687,304...89,689,810
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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 chr14:33,320,957...33,356,088
Ensembl chr14:33,320,969...33,356,093
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MPV17 |
mitochondrial inner membrane protein MPV17 |
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ISO |
ClinVar Annotator: match by term: Hepatocerebral Mitochondrial DNA Depletion Syndrome |
ClinVar |
PMID:23714749 PMID:25741868 PMID:26437932 PMID:28492532 PMID:28673863 PMID:29282788 PMID:30298599 PMID:31673878 PMID:34476298 More...
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NCBI chr14:80,289,285...80,302,838
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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 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525
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TFAM |
transcription factor A, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Hepatocerebral Mitochondrial DNA Depletion Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:72,900,665...72,914,634
Ensembl chr 9:72,904,637...72,914,397
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SLC25A12 |
solute carrier family 25 member 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 | ClinVar Annotator: match by term: SLC25A12-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19641205 PMID:24515575 PMID:25741868 PMID:28492532 PMID:31403263 More...
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NCBI chr10:57,268,948...57,387,958
Ensembl chr10:57,265,550...57,387,910
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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 9:86,746,658...86,772,052
Ensembl chr 9:86,749,730...86,771,115
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DNM1L |
dynamin 1 like |
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ISO |
ClinVar Annotator: match by term: DNM1L-related condition | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
OMIM ClinVar |
PMID:9536098 PMID:12618434 PMID:17460227 PMID:17576681 PMID:18414213 PMID:20696759 PMID:23977156 PMID:25326635 PMID:25741868 PMID:26604000 PMID:26825290 PMID:26931468 PMID:26992161 PMID:27145208 PMID:27328748 PMID:28492532 PMID:28667181 PMID:29529134 PMID:30801875 PMID:30850373 PMID:30939602 PMID:31475481 PMID:31587467 PMID:33644862 More...
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NCBI chr11:32,114,642...32,178,330
Ensembl chr11:32,114,675...32,177,661
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G |
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 chr16:68,208,121...68,222,684
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G |
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 chr11:32,181,214...32,192,654
Ensembl chr11:32,181,397...32,192,454
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G |
MFF |
mitochondrial fission factor |
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ISO |
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | ClinVar Annotator: match by term: MFF-related condition |
OMIM ClinVar |
PMID:22499341 PMID:25558065 PMID:25741868 PMID:26783368 PMID:28492532 PMID:32181496 PMID:34750646 More...
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NCBI chr10:113,348,330...113,381,875
Ensembl chr10:113,348,446...113,381,162
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G |
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 6:37,143,477...37,161,524
Ensembl chr 6:37,140,676...37,161,524
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G |
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 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342
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G |
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 6:38,141,944...38,162,663
Ensembl chr 6:38,150,297...38,161,807
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G |
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 6:37,962,389...37,999,329
Ensembl chr 6:37,962,583...37,991,246
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G |
ETHE1 |
ETHE1 persulfide dioxygenase |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
OMIM 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:27629047 PMID:27771676 PMID:27830356 PMID:28492532 PMID:28933811 PMID:29625556 PMID:29980601 PMID:30298498 PMID:30349987 PMID:30864297 PMID:31477743 PMID:32111695 PMID:32362910 PMID:32485156 PMID:32860008 PMID:32923369 PMID:33900143 PMID:36891747 More...
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NCBI chr 6:37,024,015...37,045,628
Ensembl chr 6:37,024,014...37,045,737
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G |
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 6:38,093,614...38,120,993
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G |
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 6:37,239,527...37,241,438
Ensembl chr 6:37,239,976...37,241,367
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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 6:37,111,782...37,116,258
Ensembl chr 6:37,112,015...37,115,322
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G |
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 6:37,289,088...37,316,850
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G |
LOC103234814 |
zinc finger protein 224 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,564,943...37,580,680
Ensembl chr 6:37,573,936...37,583,320
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G |
LOC103234825 |
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 6:38,127,864...38,141,612
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G |
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 6:37,308,038...37,349,342
Ensembl chr 6:37,324,610...37,329,872
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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 6:37,095,060...37,101,645
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G |
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 6:37,161,957...37,191,867
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G |
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 6:37,253,023...37,277,536
Ensembl chr 6:37,250,791...37,277,557
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G |
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 6:37,132,666...37,138,579
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G |
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 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
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G |
ZNF112 |
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 6:37,798,281...37,830,673
Ensembl chr 6:37,798,285...37,808,975
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G |
ZNF155 |
zinc finger protein 155 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,476,605...37,603,208
Ensembl chr 6:37,482,533...37,492,376
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ZNF180 |
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 6:37,932,745...37,955,742
Ensembl chr 6:37,933,500...37,955,708
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ZNF221 |
zinc finger protein 221 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,451,374...37,459,679
Ensembl chr 6:37,455,895...37,458,991
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G |
ZNF223 |
zinc finger protein 223 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,513,375...37,528,738
Ensembl chr 6:37,522,806...37,528,939
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G |
ZNF225 |
zinc finger protein 225 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,606,860...37,622,663
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G |
ZNF226 |
zinc finger protein 226 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,653,562...37,665,805
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G |
ZNF227 |
zinc finger protein 227 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,701,518...37,755,414
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G |
ZNF229 |
zinc finger protein 229 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,876,143...37,899,795
Ensembl chr 6:37,876,877...37,893,327
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G |
ZNF230 |
zinc finger protein 230 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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G |
ZNF233 |
zinc finger protein 233 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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G |
ZNF234 |
zinc finger protein 234 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,631,168...37,646,193
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G |
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 6:37,766,447...37,786,841
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G |
ZNF283 |
zinc finger protein 283 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,358,888...37,375,262
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G |
ZNF285 |
zinc finger protein 285 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,838,406...37,852,541
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G |
ZNF404 |
zinc finger protein 404 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,391,234...37,404,498
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G |
ZNF428 |
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 6:37,128,017...37,138,403
Ensembl chr 6:37,128,177...37,140,602
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G |
ZNF45 |
zinc finger protein 45 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,415,491...37,427,033
Ensembl chr 6:37,412,926...37,422,425
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G |
ZNF575 |
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 6:37,050,158...37,052,267
Ensembl chr 6:37,050,665...37,052,585
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G |
ZNF576 |
zinc finger protein 576 |
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ISO |
ClinVar Annotator: match by term: Ethylmalonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:37,116,378...37,119,975
Ensembl chr 6:37,116,254...37,123,445
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G |
DCC |
DCC netrin 1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28250456 |
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NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697
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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 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474
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G |
ROBO3 |
roundabout guidance receptor 3 |
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ISO |
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 | ClinVar Annotator: match by term: ROBO3-related condition |
OMIM ClinVar |
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 PMID:19633821 PMID:21850172 PMID:24969490 PMID:25326635 PMID:25741868 PMID:27318526 PMID:28024310 PMID:28492532 PMID:29215389 PMID:32373565 PMID:32580277 PMID:32860008 PMID:34374989 PMID:36186627 More...
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NCBI chr 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474
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G |
DCC |
DCC netrin 1 receptor |
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ISO |
ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 |
OMIM ClinVar |
PMID:25741868 PMID:28250456 PMID:28492532 |
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NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697
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G |
LOC103239687 |
surfeit locus protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16326995 |
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NCBI chr12:4,780,415...4,785,538
Ensembl chr12:4,780,568...4,785,385
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G |
LRPPRC |
leucine rich pentatricopeptide repeat containing |
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ISO |
ClinVar Annotator: match by term: Cox deficiency, French Canadian type | ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: LRPPRC-related condition | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian ClinVar Annotator: match by term: Cox deficiency, French Canadian type | 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 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian |
OMIM ClinVar |
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 chr14:63,263,101...63,380,607
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G |
AGTR1 |
angiotensin II receptor type 1 |
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ISO |
DNA:SNP: :rs5186(human) |
RGD |
PMID:21771600 |
RGD:401717567 |
NCBI chr15:41,957,826...42,002,776
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G |
FXN |
frataxin |
onset treatment |
ISO |
DNA:repeat,deletion:intron,exon:GAA(human) ClinVar Annotator: match by term: Friedreich ataxia |
RGD ClinVar |
PMID:8596916 PMID:8751856 PMID:9090376 PMID:9150176 PMID:9700204 PMID:9737785 PMID:9989622 PMID:10543403 PMID:10732799 PMID:10913738 PMID:11020385 PMID:11030757 PMID:11843702 PMID:12019217 PMID:17331979 PMID:17703324 PMID:18537827 PMID:19494730 PMID:19629184 PMID:19775837 PMID:20162437 PMID:21298097 PMID:21412413 PMID:21671584 PMID:22113996 PMID:22409940 PMID:25566998 PMID:25741868 PMID:26301374 PMID:26339677 PMID:26467025 PMID:26704351 PMID:28812047 PMID:31980526 PMID:32646255 PMID:34747814 PMID:37166361 More...
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RGD:401793707 RGD:401793708 RGD:401793711 RGD:401793713 |
NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168
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G |
FXN |
frataxin |
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ISO |
ClinVar Annotator: match by term: FXN-related disorder | ClinVar Annotator: match by term: Friedreich ataxia 1 |
OMIM ClinVar |
PMID:8596916 PMID:8751856 PMID:9090376 PMID:9700204 PMID:9737785 PMID:10913738 PMID:17331979 PMID:19775837 PMID:21412413 PMID:21671584 PMID:25566998 PMID:25741868 PMID:26467025 PMID:31673878 PMID:34747814 PMID:34906502 More...
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NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168
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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 chr26:6,970,593...7,075,077
Ensembl chr26:6,970,584...7,076,049
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G |
BCS1L |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20472482 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22310368 PMID:22991165 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:32313153 PMID:32552793 PMID:33511646 PMID:34645488 PMID:34662929 More...
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NCBI chr10:104,563,912...104,567,706
Ensembl chr10:104,565,184...104,568,099
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G |
HMGCS2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
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ISO |
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: HMGCS2-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY |
OMIM ClinVar |
PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 PMID:12072887 PMID:12647205 PMID:16199547 PMID:17576681 PMID:20346956 PMID:23751782 PMID:25511235 PMID:25741868 PMID:28492532 PMID:29597274 PMID:30283815 PMID:30477625 PMID:31910233 PMID:32259399 PMID:32952630 PMID:33045405 PMID:35308163 PMID:38469099 More...
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NCBI chr20:14,018,669...14,040,934
Ensembl chr20:14,019,692...14,041,016
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G |
PHGDH |
phosphoglycerate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr20:14,045,395...14,075,935
Ensembl chr20:14,045,346...14,076,177
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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 chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756
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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 chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756
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G |
HSPD1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
ClinVar Annotator: match by term: HSPD1-related condition | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 |
OMIM ClinVar |
PMID:18414213 PMID:18571143 PMID:22552817 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27405012 PMID:28492532 More...
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NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363
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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 chr 9:53,411,869...53,462,773
Ensembl chr 9:53,411,889...53,464,668
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G |
CAMKMT |
calmodulin-lysine N-methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism OMIM:606407 |
CTD MouseDO |
PMID:26247364 |
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NCBI chr14:62,457,493...62,879,767
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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 chr14:63,003,885...63,093,584
Ensembl chr14:63,016,553...63,093,592
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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 chr14:62,879,616...62,925,265
Ensembl chr14:62,875,133...62,924,746
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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 chr14:62,924,906...62,971,268
Ensembl chr14:62,925,443...62,971,252
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CHCHD10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance | ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant |
OMIM ClinVar |
PMID:4104978 PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:24934289 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25428574 PMID:25576308 PMID:25681414 PMID:25700176 PMID:25726362 PMID:25741868 PMID:25833818 PMID:26131548 PMID:26152333 PMID:26224640 PMID:27066538 PMID:27810918 PMID:28069311 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29540477 PMID:29789341 PMID:30014597 PMID:31690696 PMID:33749723 PMID:35700042 PMID:36158221 More...
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NCBI chr19:6,882,007...6,884,176
Ensembl chr19:6,878,662...6,884,655
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CUNH22orf15 |
chromosome unknown C22orf15 homolog |
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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 chr19:6,878,973...6,882,034
Ensembl chr19:6,879,478...6,881,927
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IL1A |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
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IL1B |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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PPARGC1A |
PPARG coactivator 1 alpha |
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ISO |
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RGD |
PMID:23406886 |
RGD:7241824 |
NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582
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TFAM |
transcription factor A, mitochondrial |
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ISO |
OMIM:530000 |
MouseDO |
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NCBI chr 9:72,900,665...72,914,634
Ensembl chr 9:72,904,637...72,914,397
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CPT2 |
carnitine palmitoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LATE-ONSET | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced |
OMIM ClinVar |
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9536098 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10607472 PMID:10734268 PMID:10862092 PMID:10868782 PMID:10873395 PMID:11257506 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12673791 PMID:12707442 PMID:12809643 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16199547 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17576681 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19762733 PMID:20301431 PMID:20661589 PMID:20810031 PMID:20830526 PMID:20934285 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22854105 PMID:22899091 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 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:26010953 PMID:26467025 PMID:26477380 PMID:27067077 PMID:27123472 PMID:27578510 PMID:27629963 PMID:27974123 PMID:28492532 PMID:28516040 PMID:28529889 PMID:28600779 PMID:28779239 PMID:28801073 PMID:28871440 PMID:29429925 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30293990 PMID:30455135 PMID:30476936 PMID:30609409 PMID:30957255 PMID:31372341 PMID:31770251 PMID:32295037 PMID:32489884 PMID:32528171 PMID:33123633 PMID:34063237 PMID:34112556 PMID:34626609 More...
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NCBI chr20:79,710,638...79,728,100
Ensembl chr20:79,706,584...79,727,689
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APOA4 |
apolipoprotein A4 |
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ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:18061280 |
RGD:5685659 |
NCBI chr 1:108,186,627...108,190,508
Ensembl chr 1:108,186,921...108,189,698
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EPHX1 |
epoxide hydrolase 1 |
onset |
ISO |
DNA:missense mutation:cds:p.Y113H (human) |
RGD |
PMID:15838728 |
RGD:5688732 |
NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535
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IL1A |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
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IL1B |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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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 7:101,297,114...101,304,675
Ensembl chr 7:101,297,691...101,302,520
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NDUFS2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
ClinVar Annotator: match by term: Leber optic atrophy |
ClinVar |
PMID:25741868 |
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NCBI chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704
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PARL |
presenilin associated rhomboid like |
no_association |
ISO |
DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) |
RGD |
PMID:20407791 PMID:20711738 |
RGD:12902617 RGD:12902618 |
NCBI chr15:5,536,556...5,589,522
Ensembl chr15:5,536,610...5,590,825
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PRICKLE3 |
prickle planar cell polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: Leber optic atrophy |
ClinVar |
PMID:32516135 |
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NCBI chr X:46,271,001...46,286,440
Ensembl chr X:46,266,985...46,283,689
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RDH12 |
retinol dehydrogenase 12 |
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ISO |
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RGD |
PMID:15322982 |
RGD:1599415 |
NCBI chr24:44,957,854...44,971,855
Ensembl chr24:44,959,921...44,971,836
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RP1 |
RP1 axonemal microtubule associated |
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ISO |
ClinVar Annotator: match by term: Leber optic atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:50,743,699...50,837,089
Ensembl chr 8:50,627,957...50,685,911 Ensembl chr 8:50,627,957...50,685,911
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RPE65 |
retinoid isomerohydrolase RPE65 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16828753 PMID:17011878 |
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NCBI chr20:64,662,777...64,684,178
Ensembl chr20:64,664,358...64,683,211
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RPGRIP1 |
RPGR interacting protein 1 |
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ISO |
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RGD |
PMID:11283794 |
RGD:1599580 |
NCBI chr29:21,769,366...21,822,346
Ensembl chr29:21,762,809...21,822,249
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SOD2 |
superoxide dismutase 2 |
treatment |
ISO |
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RGD |
PMID:12601034 PMID:15293270 |
RGD:8158101 RGD:8158104 |
NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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TP53 |
tumor protein p53 |
onset |
ISO |
DNA:polymorphism:cds:p.R72P(human) |
RGD |
PMID:15838728 |
RGD:5688732 |
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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NDUFS2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 | ClinVar Annotator: match by term: NDUFS2-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20818383 PMID:22200994 PMID:25741868 PMID:28031252 PMID:28050010 PMID:28492532 More...
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NCBI chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704
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DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
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ISO |
ClinVar Annotator: match by term: LHON, MODIFIER OF |
ClinVar |
PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 PMID:36388184 PMID:37579815 More...
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NCBI chr28:9,383,068...9,385,590
Ensembl chr28:9,383,095...9,383,775
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PRICKLE3 |
prickle planar cell polarity protein 3 |
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ISO |
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OMIM |
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NCBI chr X:46,271,001...46,286,440
Ensembl chr X:46,266,985...46,283,689
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NDUFAF5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
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ISO |
ClinVar Annotator: match by term: Leber plus disease |
ClinVar |
PMID:25741868 |
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NCBI chr 2:42,670,613...42,706,341
Ensembl chr 2:42,670,421...42,711,024
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PRICKLE3 |
prickle planar cell polarity protein 3 |
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ISO |
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MouseDO |
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NCBI chr X:46,271,001...46,286,440
Ensembl chr X:46,266,985...46,283,689
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ABCA2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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