|
G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:25741868 PMID:27597947 PMID:28492532 More...
|
|
NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496
|
|
G |
FOXRED1 |
FAD dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:16199547 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 PMID:25741868 PMID:25803036 PMID:28492532 PMID:28654958 PMID:29142257 PMID:30723688 PMID:30956948 PMID:31065540 PMID:31589614 PMID:33613441 More...
|
|
NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798
|
|
G |
GAMT |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
|
|
Ensembl chr19:1,371,312...1,375,461
|
|
G |
MRPL36 |
mitochondrial ribosomal protein L36 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
|
|
NCBI chr 5:2,129,176...2,132,142
Ensembl chr 5:1,851,883...1,852,194
|
|
G |
NDUFA10 |
NADH:ubiquinone oxidoreductase subunit A10 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr2B:127,204,900...127,269,478
Ensembl chr2B:246,022,168...246,087,658
|
|
G |
NDUFA11 |
NADH:ubiquinone oxidoreductase subunit A11 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:4,912,557...4,925,203
Ensembl chr19:5,843,085...5,854,797
|
|
G |
NDUFA2 |
NADH:ubiquinone oxidoreductase subunit A2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:136,010,029...136,012,373
|
|
G |
NDUFAF1 |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:20,326,486...20,341,156
Ensembl chr15:38,569,731...38,583,872
|
|
G |
NDUFAF2 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:25326635 PMID:25741868 PMID:26795593 PMID:27597947 PMID:28492532 PMID:31130284 More...
|
|
NCBI chr 5:52,843,931...53,053,671
|
|
G |
NDUFAF3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260
|
|
G |
NDUFAF4 |
NADH:ubiquinone oxidoreductase complex assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:94,723,579...94,732,163
Ensembl chr 6:98,609,110...98,619,089
|
|
G |
NDUFAF5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29261183 PMID:30473481 |
|
NCBI chr20:13,751,315...13,788,024
Ensembl chr20:13,735,798...13,768,671
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:25772934 |
|
NCBI chr X:39,579,460...39,582,462
Ensembl chr X:47,437,573...47,440,578
|
|
G |
NDUFS1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496
|
|
G |
NDUFS2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22200994 PMID:25741868 PMID:28031252 PMID:28492532 More...
|
|
NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705
|
|
G |
NDUFS3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 |
|
NCBI chr11:47,528,680...47,534,206
Ensembl chr11:48,078,332...48,083,863
|
|
G |
NDUFS4 |
NADH:ubiquinone oxidoreductase subunit S4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
OMIM ClinVar |
PMID:9463323 PMID:10944442 PMID:11112787 PMID:11181577 PMID:12616398 PMID:12944388 PMID:14765537 PMID:15269216 PMID:16199547 PMID:16213125 PMID:17383918 PMID:18804471 PMID:19107570 PMID:19364667 PMID:20818383 PMID:22033105 PMID:22200994 PMID:22326555 PMID:24020637 PMID:25741868 PMID:27079373 PMID:27671926 PMID:28492532 PMID:30634555 PMID:31292494 PMID:31386302 PMID:32860008 PMID:33093004 PMID:34849584 More...
|
|
NCBI chr 5:60,344,363...60,467,008
Ensembl chr 5:61,966,124...62,088,375
|
|
G |
NDUFS6 |
NADH:ubiquinone oxidoreductase subunit S6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:2,132,177...2,147,226
Ensembl chr 5:1,854,644...1,869,711
|
|
G |
NDUFS7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
Ensembl chr19:1,357,389...1,369,539
|
|
G |
NDUFS8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:20818383 PMID:24595071 PMID:25741868 PMID:26764160 PMID:28492532 PMID:30094188 PMID:33233646 PMID:35551192 More...
|
|
NCBI chr11:63,112,536...63,118,600
Ensembl chr11:66,421,378...66,427,101
|
|
G |
NDUFV1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:17576681 PMID:19073330 PMID:20818383 PMID:22644603 PMID:23562761 PMID:24642831 PMID:25615419 PMID:25741868 PMID:26024641 PMID:26345448 PMID:27344648 PMID:28492532 PMID:29948731 PMID:30090137 PMID:31589614 PMID:31665838 PMID:32180488 PMID:33083013 PMID:33182419 PMID:34134969 PMID:34645491 PMID:34716721 PMID:35482023 PMID:35482246 More...
|
|
NCBI chr11:62,964,970...62,970,605
Ensembl chr11:66,276,638...66,282,320
|
|
G |
NDUFV2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:9570948 PMID:25741868 PMID:28492532 |
|
NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884
|
|
G |
NUBPL |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:29982452 |
|
NCBI chr14:12,338,341...12,628,346
|
|
G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
|
|
NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327
|
|
G |
TIMMDC1 |
translocase of inner mitochondrial membrane domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:116,621,164...116,646,776
Ensembl chr 3:123,533,675...123,559,348
|
|
G |
TMCO6 |
transmembrane and coiled-coil domains 6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:136,003,993...136,009,960
Ensembl chr 5:142,120,756...142,126,727
|
|
G |
TMEM126B |
transmembrane protein 126B |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:80,684,485...80,692,441
|
|
|
G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 |
ClinVar |
PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:25741868 PMID:27597947 PMID:28492532 More...
|
|
NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496
|
|
G |
NDUFAF2 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 |
OMIM ClinVar |
PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:20818383 PMID:21924235 PMID:22099533 PMID:25326635 PMID:25741868 PMID:26795593 PMID:27597947 PMID:28492532 PMID:31130284 More...
|
|
NCBI chr 5:52,843,931...53,053,671
|
|
|
G |
NDUFAF1 |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 |
OMIM ClinVar |
PMID:17557076 PMID:21931170 PMID:25741868 PMID:28492532 |
|
NCBI chr15:20,326,486...20,341,156
Ensembl chr15:38,569,731...38,583,872
|
|
|
G |
NDUFA1 |
NADH:ubiquinone oxidoreductase subunit A1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 |
OMIM ClinVar |
PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28794991 PMID:29353736 PMID:31288420 More...
|
|
NCBI chr X:108,935,315...108,940,237
Ensembl chr X:119,330,105...119,334,963
|
|
|
G |
NDUFA2 |
NADH:ubiquinone oxidoreductase subunit A2 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 |
OMIM ClinVar |
PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 |
|
NCBI chr 5:136,010,029...136,012,373
|
|
G |
TMCO6 |
transmembrane and coiled-coil domains 6 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 |
ClinVar |
PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 |
|
NCBI chr 5:136,003,993...136,009,960
Ensembl chr 5:142,120,756...142,126,727
|
|
|
G |
NDUFA11 |
NADH:ubiquinone oxidoreductase subunit A11 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18306244 PMID:25741868 PMID:28492532 PMID:32712949 More...
|
|
NCBI chr19:4,912,557...4,925,203
Ensembl chr19:5,843,085...5,854,797
|
|
|
G |
NDUFAF4 |
NADH:ubiquinone oxidoreductase complex assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28853723 |
|
NCBI chr 6:94,723,579...94,732,163
Ensembl chr 6:98,609,110...98,619,089
|
|
|
G |
NDUFAF5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18940309 PMID:19542079 PMID:21607760 PMID:23536703 PMID:25326635 PMID:25356970 PMID:25741868 PMID:26275793 PMID:26467025 PMID:28454995 PMID:28492532 PMID:29261183 PMID:29581464 PMID:30473481 PMID:30581749 PMID:31130284 PMID:32918965 PMID:34177781 PMID:34645488 PMID:34732400 PMID:34797029 PMID:34964562 More...
|
|
NCBI chr20:13,751,315...13,788,024
Ensembl chr20:13,735,798...13,768,671
|
|
|
G |
NDUFAF6 |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18614015 PMID:22019594 PMID:25741868 PMID:26741492 PMID:27623250 PMID:28492532 PMID:28639102 PMID:29531337 PMID:30642748 PMID:31665838 PMID:31967322 PMID:32348839 PMID:33097395 PMID:37377599 More...
|
|
NCBI chr 8:91,514,809...91,693,044
Ensembl chr 8:93,843,617...93,877,475
|
|
|
G |
NDUFAF3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 |
OMIM ClinVar |
PMID:19463981 PMID:25741868 PMID:27986404 PMID:28492532 PMID:34656053 PMID:37572574 More...
|
|
NCBI chr 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260
|
|
|
G |
FOXRED1 |
FAD dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 |
OMIM ClinVar |
PMID:16199547 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 PMID:25678554 PMID:25741868 PMID:27215383 PMID:28097321 PMID:28492532 PMID:28654958 PMID:29142257 PMID:30723688 PMID:30956948 PMID:31065540 PMID:31434271 PMID:31589614 PMID:32573669 PMID:32964447 PMID:33613441 PMID:35628876 More...
|
|
NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798
|
|
|
G |
NDUFS8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 |
OMIM ClinVar |
PMID:9837812 PMID:15159508 PMID:20818383 PMID:22499348 PMID:23430795 PMID:25741868 PMID:26764160 PMID:28492532 PMID:30094188 PMID:32445240 PMID:33233646 PMID:34052969 PMID:35551192 More...
|
|
NCBI chr11:63,112,536...63,118,600
Ensembl chr11:66,421,378...66,427,101
|
|
|
G |
ACAD9 |
acyl-CoA dehydrogenase family member 9 |
|
ISO |
ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency |
OMIM ClinVar |
PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 PMID:22277967 PMID:22499348 PMID:23836383 PMID:25326637 PMID:25721401 PMID:25741868 PMID:26467025 PMID:26475292 PMID:26669660 PMID:27233227 PMID:27290639 PMID:27438479 PMID:27884173 PMID:28279569 PMID:28492532 PMID:28529009 PMID:30025539 PMID:30311383 PMID:30831263 PMID:31658717 PMID:31665838 PMID:32313153 PMID:32746448 PMID:33027564 PMID:34023438 PMID:34440436 More...
|
|
NCBI chr 3:125,941,278...125,974,847
Ensembl chr 3:133,298,753...133,331,883
|
|
G |
CEP290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency |
ClinVar |
PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 More...
|
|
NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
|
|
G |
CFAP92 |
cilia and flagella associated protein 92 (putative) |
|
ISO |
ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 PMID:22499348 PMID:25326637 PMID:25721401 PMID:25741868 PMID:27233227 PMID:28492532 PMID:30025539 PMID:30831263 PMID:32746448 More...
|
|
NCBI chr 3:125,971,881...126,061,778
|
|
G |
CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25741868 PMID:26092869 PMID:28492532 PMID:29146704 PMID:33176815 More...
|
|
NCBI chr 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807
|
|
G |
MKS1 |
MKS transition zone complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:9536098 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:19466712 PMID:23736532 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26490104 PMID:28492532 PMID:28497568 PMID:30679815 More...
|
|
NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328
|
|
G |
MOGS |
mannosyl-oligosaccharide glucosidase |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:24716661 |
|
NCBI chr2A:74,527,710...74,532,319
Ensembl chr2A:76,033,692...76,038,561
|
|
G |
MYBPC3 |
myosin binding protein C3 |
|
ISO |
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 PMID:15358028 PMID:15519027 PMID:15856146 PMID:16715312 PMID:18403758 PMID:18409188 PMID:18957093 PMID:19150014 PMID:19659763 PMID:20019025 PMID:20624503 PMID:21185001 PMID:21239446 PMID:21638988 PMID:22267749 PMID:22455086 PMID:22857948 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24093860 PMID:24510615 PMID:24704860 PMID:25031304 PMID:25741868 PMID:26671970 PMID:27532257 PMID:27688314 PMID:27737317 PMID:28024942 PMID:28492532 PMID:28615295 PMID:29121657 PMID:29447731 PMID:30847666 PMID:30871747 PMID:31447099 PMID:33673806 PMID:35535697 More...
|
|
NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
|
|
G |
PEX6 |
peroxisomal biogenesis factor 6 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 PMID:26387595 PMID:28492532 PMID:29220678 More...
|
|
NCBI chr 6:42,554,509...42,570,701
Ensembl chr 6:43,850,129...43,865,355
|
|
|
G |
NUBPL |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | ClinVar Annotator: match by term: NUBPL-related condition |
OMIM ClinVar |
PMID:16199547 PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:24033266 PMID:24088041 PMID:25245479 PMID:25356970 PMID:25741868 PMID:26633545 PMID:28492532 PMID:29417091 PMID:29982452 PMID:30897263 PMID:31787496 PMID:31917109 PMID:32518176 More...
|
|
NCBI chr14:12,338,341...12,628,346
|
|
|
G |
NDUFA10 |
NADH:ubiquinone oxidoreductase subunit A10 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 |
OMIM ClinVar |
PMID:21150889 PMID:22972949 PMID:25741868 PMID:28247337 PMID:28492532 PMID:33233646 PMID:34827632 PMID:34828274 More...
|
|
NCBI chr2B:127,204,900...127,269,478
Ensembl chr2B:246,022,168...246,087,658
|
|
|
G |
NDUFA12 |
NADH:ubiquinone oxidoreductase subunit A12 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 |
OMIM ClinVar |
PMID:21617257 PMID:25741868 PMID:28454995 PMID:28492532 PMID:32341820 PMID:33715266 PMID:35141356 More...
|
|
NCBI chr12:92,557,630...92,594,947
Ensembl chr12:95,953,491...95,989,618
|
|
|
G |
MTSS1 |
MTSS I-BAR domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 |
ClinVar |
|
|
NCBI chr 8:121,235,545...121,413,037
Ensembl chr 8:123,987,577...124,032,339
|
|
G |
NDUFB9 |
NADH:ubiquinone oxidoreductase subunit B9 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 |
OMIM ClinVar |
PMID:22200994 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:121,223,857...121,234,743
Ensembl chr 8:123,975,910...123,986,781
|
|
|
G |
NDUFB3 |
NADH:ubiquinone oxidoreductase subunit B3 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 |
OMIM ClinVar |
PMID:22277967 PMID:22499348 PMID:25741868 PMID:26467025 PMID:26795593 PMID:27091925 PMID:28492532 PMID:31000363 More...
|
|
NCBI chr2B:88,329,424...88,343,180
Ensembl chr2B:206,487,905...206,501,709
|
|
|
G |
NDUFA9 |
NADH:ubiquinone oxidoreductase subunit A9 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | ClinVar Annotator: match by term: NDUFA9-related condition |
OMIM ClinVar |
PMID:22114105 PMID:25741868 PMID:28492532 PMID:28671271 |
|
NCBI chr12:4,766,608...4,811,871
Ensembl chr12:4,687,250...4,725,669
|
|
|
G |
MTFMT |
mitochondrial methionyl-tRNA formyltransferase |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 |
OMIM ClinVar |
PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 PMID:30087118 PMID:30369941 PMID:30911575 PMID:32577402 More...
|
|
NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
|
|
|
G |
TMEM126B |
transmembrane protein 126B |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 |
OMIM ClinVar |
PMID:25741868 PMID:27290639 PMID:27374773 PMID:27374774 PMID:28492532 PMID:29093663 PMID:30369941 PMID:31658717 More...
|
|
NCBI chr11:80,684,485...80,692,441
|
|
|
G |
NDUFS7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 |
OMIM ClinVar |
PMID:10330338 PMID:10360771 PMID:11004438 PMID:15269216 PMID:17275378 PMID:17604671 PMID:25741868 PMID:26024641 PMID:28492532 PMID:30369941 More...
|
|
Ensembl chr19:1,357,389...1,369,539
|
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 |
OMIM ClinVar |
PMID:25741868 PMID:25772934 PMID:26741492 PMID:27488349 PMID:28050600 PMID:30423443 PMID:31243186 More...
|
|
NCBI chr X:39,579,460...39,582,462
Ensembl chr X:47,437,573...47,440,578
|
|
|
G |
TIMMDC1 |
translocase of inner mitochondrial membrane domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28604674 PMID:33278652 PMID:33586140 PMID:35091571 More...
|
|
NCBI chr 3:116,621,164...116,646,776
Ensembl chr 3:123,533,675...123,559,348
|
|
|
G |
NDUFB8 |
NADH:ubiquinone oxidoreductase subunit B8 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429571 |
|
NCBI chr10:97,123,826...97,129,919
Ensembl chr10:100,604,914...100,611,016
|
|
|
G |
NDUFA6 |
NADH:ubiquinone oxidoreductase subunit A6 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30245030 PMID:30847515 |
|
NCBI chr22:22,978,954...22,987,979
Ensembl chr22:41,066,111...41,074,852
|
|
|
G |
NDUFAF8 |
NADH:ubiquinone oxidoreductase complex assembly factor 8 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 |
OMIM ClinVar |
PMID:25741868 PMID:31866046 |
|
NCBI chr17:75,665,568...75,667,559
|
|
|
G |
NARS1 |
asparaginyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 |
ClinVar |
PMID:28040730 |
|
NCBI chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454
|
|
G |
NDUFB10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 |
OMIM ClinVar |
PMID:28040730 |
|
NCBI chr16:742,402...744,850
Ensembl chr16:2,048,550...2,051,005
|
|
|
G |
NDUFC2 |
NADH:ubiquinone oxidoreductase subunit C2 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 |
OMIM ClinVar |
PMID:25741868 PMID:32969598 |
|
NCBI chr11:73,128,457...73,140,344
Ensembl chr11:76,720,094...76,763,098
|
|
|
G |
NDUFA8 |
NADH:ubiquinone oxidoreductase subunit A8 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 |
OMIM ClinVar |
PMID:25741868 PMID:32385911 PMID:33153867 |
|
NCBI chr 9:93,268,929...93,284,704
Ensembl chr 9:121,610,091...121,625,688
|
|
|
G |
DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
|
ISO |
ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 PMID:37579815 More...
|
|
Ensembl chr 7:80,835,722...80,836,402
|
|
|
G |
NDUFB7 |
NADH:ubiquinone oxidoreductase subunit B7 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 39 |
ClinVar OMIM |
PMID:25741868 PMID:33502047 |
|
NCBI chr19:14,129,123...14,135,129
Ensembl chr19:14,972,882...14,978,730
|
|
|
G |
NDUFV1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: NDUFV1-Related Disorders | ClinVar Annotator: match by term: NDUFV1-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 PMID:15576045 PMID:17576681 PMID:19073330 PMID:20818383 PMID:21364701 PMID:21696386 PMID:22644603 PMID:23266820 PMID:23334465 PMID:23562761 PMID:23631824 PMID:25615419 PMID:25741868 PMID:26024641 PMID:26345448 PMID:27126960 PMID:27344648 PMID:28454995 PMID:28492532 PMID:29353736 PMID:29948731 PMID:29976978 PMID:30090137 PMID:30770271 PMID:31589614 PMID:31665838 PMID:32180488 PMID:32445240 PMID:33083013 PMID:33182419 PMID:33258288 PMID:34134969 PMID:34645491 PMID:34716721 PMID:34807224 PMID:34906502 PMID:35482023 PMID:35482246 PMID:35586607 More...
|
|
NCBI chr11:62,964,970...62,970,605
Ensembl chr11:66,276,638...66,282,320
|
|
|
G |
NDUFS1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: NDUFS1-related condition |
OMIM ClinVar |
PMID:11349233 PMID:15824269 PMID:19167255 PMID:20382551 PMID:20819849 PMID:21203893 PMID:21458341 PMID:22200994 PMID:25615419 PMID:25741868 PMID:28492532 PMID:33547378 PMID:34716721 PMID:35012964 More...
|
|
NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496
|
|
|
G |
NDUFS2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 |
OMIM ClinVar |
PMID:9536098 PMID:11220739 PMID:17576681 PMID:20818383 PMID:20819849 PMID:22200994 PMID:25741868 PMID:28031252 PMID:28492532 PMID:31411514 More...
|
|
NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705
|
|
|
G |
NDUFV2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 |
OMIM ClinVar |
PMID:9570948 PMID:25741868 PMID:26008862 PMID:28492532 PMID:30369941 |
|
NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884
|
|
|
G |
NDUFS3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 |
OMIM ClinVar |
PMID:9536098 PMID:14729820 PMID:17576681 PMID:22499348 PMID:25741868 PMID:28492532 PMID:30140060 PMID:33097395 More...
|
|
NCBI chr11:47,528,680...47,534,206
Ensembl chr11:48,078,332...48,083,863
|
|
|
G |
MRPL36 |
mitochondrial ribosomal protein L36 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:2,129,176...2,132,142
Ensembl chr 5:1,851,883...1,852,194
|
|
G |
NDUFS6 |
NADH:ubiquinone oxidoreductase subunit S6 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 |
OMIM ClinVar |
PMID:9536098 PMID:15372108 PMID:17576681 PMID:19259137 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28429146 PMID:28490743 PMID:28492532 PMID:30948790 More...
|
|
NCBI chr 5:2,132,177...2,147,226
Ensembl chr 5:1,854,644...1,869,711
|
|