Mitochondrial Disease Genes Compendium - Gene Index

1. MSeqDR link: AARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:44267391..44281063

HGNC Gene: alanyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000124608; Refseq accession: NM_020745; OMIM ID: 612035; VEGA_ids: OTTHUMG00000014766; uniprot_ids: Q5JTZ9
2. MSeqDR link: AASS Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 7:121715701..121784334

HGNC Gene: aminoadipate-semialdehyde synthase;
Ensembl_gene_id; ENSG00000008311; Refseq accession: NM_005763; OMIM ID: 605113; VEGA_ids: OTTHUMG00000157058; uniprot_ids: Q9UDR5
3. MSeqDR link: ABAT Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:8768422..8878432

HGNC Gene: 4-aminobutyrate aminotransferase;
Ensembl_gene_id; ENSG00000183044; Refseq accession: NM_020686; OMIM ID: 137150; VEGA_ids: OTTHUMG00000048201; uniprot_ids: P80404
4. MSeqDR link: ABCB7 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) X:74273115..74376567

HGNC Gene: ATP binding cassette subfamily B member 7;
Ensembl_gene_id; ENSG00000131269; Refseq accession: NM_004299; OMIM ID: 300135; VEGA_ids: OTTHUMG00000021862; uniprot_ids: O75027
5. MSeqDR link: ACAD9 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:128598439..128634910

HGNC Gene: acyl-CoA dehydrogenase family member 9;
Ensembl_gene_id; ENSG00000177646; Refseq accession: NM_014049; OMIM ID: 611103; VEGA_ids: OTTHUMG00000159942; uniprot_ids: Q9H845
6. MSeqDR link: ACADL Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:211052663..211090215

HGNC Gene: acyl-CoA dehydrogenase, long chain;
Ensembl_gene_id; ENSG00000115361; Refseq accession: NM_001608; OMIM ID: 609576; VEGA_ids: OTTHUMG00000132989; uniprot_ids: P28330
7. MSeqDR link: ACADM Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:76190036..76253260

HGNC Gene: acyl-CoA dehydrogenase, C-4 to C-12 straight chain;
Ensembl_gene_id; ENSG00000117054; Refseq accession: NM_000016; OMIM ID: 607008; VEGA_ids: OTTHUMG00000009784; uniprot_ids: P11310
8. MSeqDR link: ACADS Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:121163538..121177811

HGNC Gene: acyl-CoA dehydrogenase, C-2 to C-3 short chain;
Ensembl_gene_id; ENSG00000122971; Refseq accession: NM_000017; OMIM ID: 606885; VEGA_ids: OTTHUMG00000169203; uniprot_ids: P16219
9. MSeqDR link: ACADVL Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:7120444..7128592

HGNC Gene: acyl-CoA dehydrogenase, very long chain;
Ensembl_gene_id; ENSG00000072778; Refseq accession: NM_000018; OMIM ID: 609575; VEGA_ids: OTTHUMG00000102157; uniprot_ids: P49748
10. MSeqDR link: ACAT1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:107992243..108018503

HGNC Gene: acetyl-CoA acetyltransferase 1;
Ensembl_gene_id; ENSG00000075239; Refseq accession: NM_000019; OMIM ID: 607809; VEGA_ids: OTTHUMG00000166381; uniprot_ids: P24752
11. MSeqDR link: ACO2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 22:41865129..41924993

HGNC Gene: aconitase 2;
Ensembl_gene_id; ENSG00000100412; Refseq accession: NM_001098; OMIM ID: 100850; VEGA_ids: OTTHUMG00000030544; uniprot_ids: Q99798
12. MSeqDR link: AFG3L2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 18:12328943..12377313

HGNC Gene: AFG3 like matrix AAA peptidase subunit 2;
Ensembl_gene_id; ENSG00000141385; Refseq accession: NM_006796; OMIM ID: 604581; VEGA_ids: OTTHUMG00000131695; uniprot_ids: Q9Y4W6
13. MSeqDR link: AGK Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 7:141250989..141355044

HGNC Gene: acylglycerol kinase;
Ensembl_gene_id; ENSG00000006530; Refseq accession: NM_018238; OMIM ID: 610345; VEGA_ids: OTTHUMG00000157499; uniprot_ids: Q53H12
14. MSeqDR link: AIFM1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) X:129263337..129299861

HGNC Gene: apoptosis inducing factor mitochondria associated 1;
Ensembl_gene_id; ENSG00000156709; Refseq accession: NM_001130846; OMIM ID: 300169; VEGA_ids: OTTHUMG00000022392; uniprot_ids: O95831
15. MSeqDR link: AK2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:33473585..33546597

HGNC Gene: adenylate kinase 2;
Ensembl_gene_id; ENSG00000004455; Refseq accession: NM_001625; OMIM ID: 103020; VEGA_ids: OTTHUMG00000004131; uniprot_ids: P54819
16. MSeqDR link: AMT Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:49454211..49460186

HGNC Gene: aminomethyltransferase;
Ensembl_gene_id; ENSG00000145020; Refseq accession: NM_000481; OMIM ID: 238310; VEGA_ids: OTTHUMG00000156847; uniprot_ids: P48728
17. MSeqDR link: APOPT1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 14:104029299..104073860

HGNC Gene: apoptogenic 1, mitochondrial;
Ensembl_gene_id; ENSG00000256053; Refseq accession: NM_032374; OMIM ID: 616003; VEGA_ids: OTTHUMG00000153929; uniprot_ids: Q96IL0
18. MSeqDR link: ATPAF2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:17880723..17942523

HGNC Gene: ATP synthase mitochondrial F1 complex assembly factor 2;
Ensembl_gene_id; ENSG00000171953; Refseq accession: NM_145691; OMIM ID: 608918; VEGA_ids: OTTHUMG00000059354; uniprot_ids: Q8N5M1
19. MSeqDR link: AUH Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 9:93976097..94124195

HGNC Gene: AU RNA binding methylglutaconyl-CoA hydratase;
Ensembl_gene_id; ENSG00000148090; Refseq accession: NM_001306190; OMIM ID: 600529; VEGA_ids: OTTHUMG00000020207; uniprot_ids: Q13825
20. MSeqDR link: BAG3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 10:121410882..121437331

HGNC Gene: BCL2 associated athanogene 3;
Ensembl_gene_id; ENSG00000151929; Refseq accession: NM_004281; OMIM ID: 603883; VEGA_ids: OTTHUMG00000019155; uniprot_ids: O95817
21. MSeqDR link: BCS1L Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:219523487..219528166

HGNC Gene: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone;
Ensembl_gene_id; ENSG00000074582; Refseq accession: NM_004328; OMIM ID: 603647; VEGA_ids: OTTHUMG00000133114; uniprot_ids: Q9Y276
22. MSeqDR link: BOLA3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:74362525..74375121

HGNC Gene: bolA family member 3;
Ensembl_gene_id; ENSG00000163170; Refseq accession: NM_212552; OMIM ID: 613183; VEGA_ids: OTTHUMG00000152834; uniprot_ids: Q53S33
23. MSeqDR link: C12orf65 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:123717463..123742506

HGNC Gene: chromosome 12 open reading frame 65;
Ensembl_gene_id; ENSG00000130921; Refseq accession: NM_152269; OMIM ID: 613541; VEGA_ids: OTTHUMG00000168852; uniprot_ids: Q9H3J6
24. MSeqDR link: C19orf12 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:30191721..30206364

HGNC Gene: chromosome 19 open reading frame 12;
Ensembl_gene_id; ENSG00000131943; Refseq accession: NM_031448; OMIM ID: 614297; VEGA_ids: OTTHUMG00000149838; uniprot_ids: Q9NSK7
25. MSeqDR link: C1QBP Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:5336097..5352150

HGNC Gene: complement C1q binding protein;
Ensembl_gene_id; ENSG00000108561; Refseq accession: NM_001212; OMIM ID: 601269; VEGA_ids: OTTHUMG00000177875; uniprot_ids: Q07021
26. MSeqDR link: CA5A Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:87921625..87970135

HGNC Gene: carbonic anhydrase 5A;
Ensembl_gene_id; ENSG00000174990; Refseq accession: NM_001739; OMIM ID: 114761; VEGA_ids: OTTHUMG00000137677; uniprot_ids: P35218
27. MSeqDR link: CARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 13:111293759..111365950

HGNC Gene: cysteinyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000134905; Refseq accession: NM_024537; OMIM ID: 612800; VEGA_ids: OTTHUMG00000017347; uniprot_ids: Q9HA77
28. MSeqDR link: CHCHD10 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 22:24108021..24110630

HGNC Gene: coiled-coil-helix-coiled-coil-helix domain containing 10;
Ensembl_gene_id; ENSG00000250479; Refseq accession: NM_213720; OMIM ID: 615903; VEGA_ids: OTTHUMG00000150736; uniprot_ids: Q8WYQ3
29. MSeqDR link: CHKB Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 22:51017378..51039884

HGNC Gene: choline kinase beta;
Ensembl_gene_id; ENSG00000100288; Refseq accession: NM_005198; OMIM ID: 612395; VEGA_ids: OTTHUMG00000150275; uniprot_ids: Q9Y259
30. MSeqDR link: COA3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:40947165..40950722

HGNC Gene: cytochrome c oxidase assembly factor 3;
Ensembl_gene_id; ENSG00000183978; Refseq accession: NM_014019; OMIM ID: 614775; VEGA_ids: OTTHUMG00000180651; uniprot_ids: Q9Y2R0
31. MSeqDR link: COQ2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 4:84182689..84206067

HGNC Gene: coenzyme Q2, polyprenyltransferase;
Ensembl_gene_id; ENSG00000173085; Refseq accession: NM_015697; OMIM ID: 609825; VEGA_ids: OTTHUMG00000160940; uniprot_ids: Q96H96
32. MSeqDR link: COQ4 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 9:131084815..131096351

HGNC Gene: coenzyme Q4;
Ensembl_gene_id; ENSG00000167113; Refseq accession: NM_016035; OMIM ID: 612898; VEGA_ids: OTTHUMG00000020743; uniprot_ids: Q9Y3A0
33. MSeqDR link: COQ8B Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:41197434..41224112

HGNC Gene: coenzyme Q8B;
Ensembl_gene_id; ENSG00000123815; Refseq accession: NM_024876; OMIM ID: 615567; VEGA_ids: OTTHUMG00000182620; uniprot_ids: Q96D53
34. MSeqDR link: COQ9 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:57481337..57495187

HGNC Gene: coenzyme Q9;
Ensembl_gene_id; ENSG00000088682; Refseq accession: NM_020312; OMIM ID: 612837; VEGA_ids: OTTHUMG00000176582; uniprot_ids: O75208
35. MSeqDR link: COX10 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:13972813..14111994

HGNC Gene: COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor;
Ensembl_gene_id; ENSG00000006695; Refseq accession: NM_001303; OMIM ID: 602125; VEGA_ids: OTTHUMG00000058814; uniprot_ids: Q12887
36. MSeqDR link: COX14 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:50505762..50514240

HGNC Gene: COX14, cytochrome c oxidase assembly factor;
Ensembl_gene_id; ENSG00000178449; Refseq accession: NM_032901; OMIM ID: 614478; VEGA_ids: OTTHUMG00000185635; uniprot_ids: Q96I36
37. MSeqDR link: COX15 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 10:101471601..101491857

HGNC Gene: COX15, cytochrome c oxidase assembly homolog;
Ensembl_gene_id; ENSG00000014919; Refseq accession: NM_078470; OMIM ID: 603646; VEGA_ids: OTTHUMG00000018893; uniprot_ids: Q7KZN9
38. MSeqDR link: COX20 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:244998624..245008359

HGNC Gene: COX20, cytochrome c oxidase assembly factor;
Ensembl_gene_id; ENSG00000203667; Refseq accession: NM_198076; OMIM ID: 614698; VEGA_ids: OTTHUMG00000040401; uniprot_ids: Q5RI15
39. MSeqDR link: COX6B1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:36139125..36149763

HGNC Gene: cytochrome c oxidase subunit 6B1;
Ensembl_gene_id; ENSG00000126267; Refseq accession: NM_001863; OMIM ID: 124089; VEGA_ids: OTTHUMG00000048112; uniprot_ids: P14854
40. MSeqDR link: CPS1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:211342406..211543831

HGNC Gene: carbamoyl-phosphate synthase 1;
Ensembl_gene_id; ENSG00000021826; Refseq accession: NM_001122633; OMIM ID: 608307; VEGA_ids: OTTHUMG00000132994; uniprot_ids: P31327
41. MSeqDR link: CPT1A Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:68522088..68611878

HGNC Gene: carnitine palmitoyltransferase 1A;
Ensembl_gene_id; ENSG00000110090; Refseq accession: NM_001876; OMIM ID: 600528; VEGA_ids: OTTHUMG00000167892; uniprot_ids: P50416
42. MSeqDR link: CPT2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:53662101..53679869

HGNC Gene: carnitine palmitoyltransferase 2;
Ensembl_gene_id; ENSG00000157184; Refseq accession: NM_000098; OMIM ID: 600650; VEGA_ids: OTTHUMG00000008942; uniprot_ids: P23786
43. MSeqDR link: CYC1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 8:145149930..145152428

HGNC Gene: cytochrome c1;
Ensembl_gene_id; ENSG00000179091; Refseq accession: NM_001916; OMIM ID: 123980; VEGA_ids: OTTHUMG00000165242; uniprot_ids: P08574
44. MSeqDR link: D2HGDH Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:242673994..242708231

HGNC Gene: D-2-hydroxyglutarate dehydrogenase;
Ensembl_gene_id; ENSG00000180902; Refseq accession: NM_152783; OMIM ID: 609186; VEGA_ids: OTTHUMG00000151474; uniprot_ids: Q8N465
45. MSeqDR link: DARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:173793641..173827684

HGNC Gene: aspartyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000117593; Refseq accession: NM_018122; OMIM ID: 610956; VEGA_ids: OTTHUMG00000034803; uniprot_ids: Q6PI48
46. MSeqDR link: DES Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:220283099..220291461

HGNC Gene: desmin;
Ensembl_gene_id; ENSG00000175084; Refseq accession: NM_001927; OMIM ID: 125660; VEGA_ids: OTTHUMG00000058924; uniprot_ids: P17661
47. MSeqDR link: DGUOK Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:74153953..74186088

HGNC Gene: deoxyguanosine kinase;
Ensembl_gene_id; ENSG00000114956; Refseq accession: NM_001318859; OMIM ID: 601465; VEGA_ids: OTTHUMG00000129819; uniprot_ids: Q16854
48. MSeqDR link: DLAT Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:111895538..111935114

HGNC Gene: dihydrolipoamide S-acetyltransferase;
Ensembl_gene_id; ENSG00000150768; Refseq accession: NM_001931; OMIM ID: 608770; VEGA_ids: OTTHUMG00000133751; uniprot_ids: P10515
49. MSeqDR link: DLD Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 7:107531415..107572175

HGNC Gene: dihydrolipoamide dehydrogenase;
Ensembl_gene_id; ENSG00000091140; Refseq accession: NM_000108; OMIM ID: 238331; VEGA_ids: OTTHUMG00000154813; uniprot_ids: P09622
50. MSeqDR link: DNAJC19 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:180701497..180707562

HGNC Gene: DnaJ heat shock protein family (Hsp40) member C19;
Ensembl_gene_id; ENSG00000205981; Refseq accession: NM_145261; OMIM ID: 608977; VEGA_ids: OTTHUMG00000158180; uniprot_ids: Q96DA6
51. MSeqDR link: DNM1L Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:32832134..32898486

HGNC Gene: dynamin 1 like;
Ensembl_gene_id; ENSG00000087470; Refseq accession: NM_012062; OMIM ID: 603850; VEGA_ids: OTTHUMG00000169451; uniprot_ids: O00429
52. MSeqDR link: EARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:23533335..23569052

HGNC Gene: glutamyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000103356; Refseq accession: NM_133451; OMIM ID: 612799; VEGA_ids: OTTHUMG00000177018; uniprot_ids: Q5JPH6
53. MSeqDR link: ECHS1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 10:135175984..135187193

HGNC Gene: enoyl-CoA hydratase, short chain 1;
Ensembl_gene_id; ENSG00000127884; Refseq accession: NM_004092; OMIM ID: 602292; VEGA_ids: OTTHUMG00000019320; uniprot_ids: P30084
54. MSeqDR link: ELAC2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:12895708..12921504

HGNC Gene: elaC ribonuclease Z 2;
Ensembl_gene_id; ENSG00000006744; Refseq accession: NM_001165962; OMIM ID: 605367; VEGA_ids: OTTHUMG00000058764; uniprot_ids: Q9BQ52
55. MSeqDR link: ETFA Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 15:76507696..76603813

HGNC Gene: electron transfer flavoprotein alpha subunit;
Ensembl_gene_id; ENSG00000140374; Refseq accession: NM_000126; OMIM ID: 608053; VEGA_ids: OTTHUMG00000172586; uniprot_ids: P13804
56. MSeqDR link: ETFB Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:51848423..51869672

HGNC Gene: electron transfer flavoprotein beta subunit;
Ensembl_gene_id; ENSG00000105379; Refseq accession: NM_001014763; OMIM ID: 130410; VEGA_ids: OTTHUMG00000182903; uniprot_ids: P38117
57. MSeqDR link: ETFDH Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 4:159593277..159630775

HGNC Gene: electron transfer flavoprotein dehydrogenase;
Ensembl_gene_id; ENSG00000171503; Refseq accession: NM_001281737; OMIM ID: 231675; VEGA_ids: OTTHUMG00000161684; uniprot_ids: Q16134
58. MSeqDR link: ETHE1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:44010871..44031396

HGNC Gene: ETHE1, persulfide dioxygenase;
Ensembl_gene_id; ENSG00000105755; Refseq accession: NM_014297; OMIM ID: 608451; VEGA_ids: OTTHUMG00000182697; uniprot_ids: O95571
59. MSeqDR link: EXOSC3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 9:37766975..37801434

HGNC Gene: exosome component 3;
Ensembl_gene_id; ENSG00000107371; Refseq accession: NM_016042; OMIM ID: 606489; VEGA_ids: OTTHUMG00000019932; uniprot_ids: Q9NQT5
60. MSeqDR link: FARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:5261277..5771813

HGNC Gene: phenylalanyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000145982; Refseq accession: NM_006567; OMIM ID: 611592; VEGA_ids: OTTHUMG00000014178; uniprot_ids: O95363
61. MSeqDR link: FASTKD2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:207630081..207657233

HGNC Gene: FAST kinase domains 2;
Ensembl_gene_id; ENSG00000118246; Refseq accession: NM_014929; OMIM ID: 612322; VEGA_ids: OTTHUMG00000132917; uniprot_ids: Q9NYY8
62. MSeqDR link: FBXL4 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:99316420..99395849

HGNC Gene: F-box and leucine rich repeat protein 4;
Ensembl_gene_id; ENSG00000112234; Refseq accession: NM_001278716; OMIM ID: 605654; VEGA_ids: OTTHUMG00000015259; uniprot_ids: Q9UKA2
63. MSeqDR link: FH Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:241660903..241683061

HGNC Gene: fumarate hydratase;
Ensembl_gene_id; ENSG00000091483; Refseq accession: NM_000143; OMIM ID: 136850; VEGA_ids: OTTHUMG00000039597; uniprot_ids: P07954
64. MSeqDR link: FLAD1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:154955814..154965587

HGNC Gene: flavin adenine dinucleotide synthetase 1;
Ensembl_gene_id; ENSG00000160688; Refseq accession: NM_025207; OMIM ID: 610595; VEGA_ids: OTTHUMG00000037416; uniprot_ids: Q8NFF5
65. MSeqDR link: FOXRED1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:126138950..126148026

HGNC Gene: FAD dependent oxidoreductase domain containing 1;
Ensembl_gene_id; ENSG00000110074; Refseq accession: NM_017547; OMIM ID: 613622; VEGA_ids: OTTHUMG00000165827; uniprot_ids: Q96CU9
66. MSeqDR link: FXN Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 9:71650175..71715094

HGNC Gene: frataxin;
Ensembl_gene_id; ENSG00000165060; Refseq accession: NM_000144; OMIM ID: 606829; VEGA_ids: OTTHUMG00000019977; uniprot_ids: Q16595
67. MSeqDR link: GAMT Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:1397091..1401569

HGNC Gene: guanidinoacetate N-methyltransferase;
Ensembl_gene_id; ENSG00000130005; Refseq accession: NM_138924; OMIM ID: 601240; VEGA_ids: OTTHUMG00000180095; uniprot_ids: Q14353
68. MSeqDR link: GATM Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 15:45653322..45694525

HGNC Gene: glycine amidinotransferase;
Ensembl_gene_id; ENSG00000171766; Refseq accession: NM_001482; OMIM ID: 602360; VEGA_ids: OTTHUMG00000131427; uniprot_ids: P50440
69. MSeqDR link: GCDH Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:13001840..13025021

HGNC Gene: glutaryl-CoA dehydrogenase;
Ensembl_gene_id; ENSG00000105607; Refseq accession: NM_000159; OMIM ID: 608801; VEGA_ids: OTTHUMG00000180561; uniprot_ids: Q92947
70. MSeqDR link: GCSH Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:81115566..81130008

HGNC Gene: glycine cleavage system protein H;
Ensembl_gene_id; ENSG00000140905; Refseq accession: NM_004483; OMIM ID: 238330; VEGA_ids: OTTHUMG00000137626; uniprot_ids: P23434
71. MSeqDR link: GFER Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:2034208..2037750

HGNC Gene: growth factor, augmenter of liver regeneration;
Ensembl_gene_id; ENSG00000127554; Refseq accession: NM_005262; OMIM ID: 600924; VEGA_ids: OTTHUMG00000176896; uniprot_ids: P55789
72. MSeqDR link: GFM1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:158362067..158410364

HGNC Gene: G elongation factor mitochondrial 1;
Ensembl_gene_id; ENSG00000168827; Refseq accession: NM_024996; OMIM ID: 606639; VEGA_ids: OTTHUMG00000158804; uniprot_ids: Q96RP9
73. MSeqDR link: GFM2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 5:74017029..74063196

HGNC Gene: G elongation factor mitochondrial 2;
Ensembl_gene_id; ENSG00000164347; Refseq accession: NM_032380; OMIM ID: 606544; VEGA_ids: OTTHUMG00000102058; uniprot_ids: Q969S9
74. MSeqDR link: GLDC Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 9:6532464..6645650

HGNC Gene: glycine decarboxylase;
Ensembl_gene_id; ENSG00000178445; Refseq accession: NM_000170; OMIM ID: 238300; VEGA_ids: OTTHUMG00000019524; uniprot_ids: P23378
75. MSeqDR link: GPD2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:157291802..157470247

HGNC Gene: glycerol-3-phosphate dehydrogenase 2;
Ensembl_gene_id; ENSG00000115159; Refseq accession: NM_000408; OMIM ID: 138430; VEGA_ids: OTTHUMG00000131951; uniprot_ids: P43304
76. MSeqDR link: GTPBP3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:17445729..17453544

HGNC Gene: GTP binding protein 3, mitochondrial;
Ensembl_gene_id; ENSG00000130299; Refseq accession: NM_032620; OMIM ID: 608536; VEGA_ids: OTTHUMG00000182766; uniprot_ids: Q969Y2
77. MSeqDR link: HADH Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 4:108910870..108956331

HGNC Gene: hydroxyacyl-CoA dehydrogenase;
Ensembl_gene_id; ENSG00000138796; Refseq accession: NM_005327; OMIM ID: 601609; VEGA_ids: OTTHUMG00000131810; uniprot_ids: Q16836
78. MSeqDR link: HADHA Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:26413504..26467594

HGNC Gene: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit;
Ensembl_gene_id; ENSG00000084754; Refseq accession: NM_000182; OMIM ID: 600890; VEGA_ids: OTTHUMG00000096979; uniprot_ids: P40939
79. MSeqDR link: HADHB Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:26466038..26513336

HGNC Gene: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit;
Ensembl_gene_id; ENSG00000138029; Refseq accession: NM_000183; OMIM ID: 143450; VEGA_ids: OTTHUMG00000096978; uniprot_ids: P55084
80. MSeqDR link: HARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 5:140071011..140078889

HGNC Gene: histidyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000112855; Refseq accession: NM_012208; OMIM ID: 600783; VEGA_ids: OTTHUMG00000129500; uniprot_ids: P49590
81. MSeqDR link: HIBCH Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:191054461..191208919

HGNC Gene: 3-hydroxyisobutyryl-CoA hydrolase;
Ensembl_gene_id; ENSG00000198130; Refseq accession: NM_014362; OMIM ID: 610690; VEGA_ids: OTTHUMG00000132673; uniprot_ids: Q6NVY1
82. MSeqDR link: HMGCS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:120290619..120311528

HGNC Gene: 3-hydroxy-3-methylglutaryl-CoA synthase 2;
Ensembl_gene_id; ENSG00000134240; Refseq accession: NM_005518; OMIM ID: 600234; VEGA_ids: OTTHUMG00000012101; uniprot_ids: P54868
83. MSeqDR link: HNF1B Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:36046435..36105237

HGNC Gene: HNF1 homeobox B;
Ensembl_gene_id; ENSG00000275410; Refseq accession: NM_000458; OMIM ID: 189907; VEGA_ids: OTTHUMG00000188478; uniprot_ids: P35680
84. MSeqDR link: HSD17B10 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) X:53458206..53461320

HGNC Gene: hydroxysteroid 17-beta dehydrogenase 10;
Ensembl_gene_id; ENSG00000072506; Refseq accession: NM_004493; OMIM ID: 300256; VEGA_ids: OTTHUMG00000021612; uniprot_ids: Q99714
85. MSeqDR link: HSPD1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:198351305..198381461

HGNC Gene: heat shock protein family D (Hsp60) member 1;
Ensembl_gene_id; ENSG00000144381; Refseq accession: NM_002156; OMIM ID: 118190; VEGA_ids: OTTHUMG00000154463; uniprot_ids: P10809
86. MSeqDR link: IARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:220267444..220321380

HGNC Gene: isoleucyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000067704; Refseq accession: NM_018060; OMIM ID: 612801; VEGA_ids: OTTHUMG00000037287; uniprot_ids: Q9NSE4
87. MSeqDR link: IBA57 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:228353516..228369958

HGNC Gene: IBA57 homolog, iron-sulfur cluster assembly;
Ensembl_gene_id; ENSG00000181873; Refseq accession: NM_001010867; OMIM ID: 615316; VEGA_ids: OTTHUMG00000039769; uniprot_ids: Q5T440
88. MSeqDR link: IDH2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 15:90626277..90645736

HGNC Gene: isocitrate dehydrogenase (NADP(+)) 2, mitochondrial;
Ensembl_gene_id; ENSG00000182054; Refseq accession: NM_001289910; OMIM ID: 147650; VEGA_ids: OTTHUMG00000149815; uniprot_ids: P48735
89. MSeqDR link: ISCA2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 14:74960423..74963809

HGNC Gene: iron-sulfur cluster assembly 2;
Ensembl_gene_id; ENSG00000165898; Refseq accession: NM_194279; OMIM ID: 615317; VEGA_ids: OTTHUMG00000171214; uniprot_ids: Q86U28
90. MSeqDR link: ISCU Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:108956358..108963160

HGNC Gene: iron-sulfur cluster assembly enzyme;
Ensembl_gene_id; ENSG00000136003; Refseq accession: NM_014301; OMIM ID: 611911; VEGA_ids: OTTHUMG00000168420; uniprot_ids: Q9H1K1
91. MSeqDR link: L2HGDH Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 14:50704281..50779266

HGNC Gene: L-2-hydroxyglutarate dehydrogenase;
Ensembl_gene_id; ENSG00000087299; Refseq accession: NM_024884; OMIM ID: 609584; VEGA_ids: OTTHUMG00000140289; uniprot_ids: Q9H9P8
92. MSeqDR link: LARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:45429998..45590913

HGNC Gene: leucyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000011376; Refseq accession: NM_015340; OMIM ID: 604544; VEGA_ids: OTTHUMG00000133177; uniprot_ids: Q15031
93. MSeqDR link: LDB3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 10:88428206..88495825

HGNC Gene: LIM domain binding 3;
Ensembl_gene_id; ENSG00000122367; Refseq accession: NM_001080114; OMIM ID: 605906; VEGA_ids: OTTHUMG00000018655; uniprot_ids: O75112
94. MSeqDR link: LIAS Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 4:39460620..39479273

HGNC Gene: lipoic acid synthetase;
Ensembl_gene_id; ENSG00000121897; Refseq accession: NM_194451; OMIM ID: 607031; VEGA_ids: OTTHUMG00000099369; uniprot_ids: O43766
95. MSeqDR link: LMNA Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:156052364..156109880

HGNC Gene: lamin A/C;
Ensembl_gene_id; ENSG00000160789; Refseq accession: NM_170707; OMIM ID: 150330; VEGA_ids: OTTHUMG00000013961; uniprot_ids: P02545
96. MSeqDR link: LRPPRC Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:44113647..44223144

HGNC Gene: leucine rich pentatricopeptide repeat containing;
Ensembl_gene_id; ENSG00000138095; Refseq accession: NM_133259; OMIM ID: 607544; VEGA_ids: OTTHUMG00000152782; uniprot_ids: P42704
97. MSeqDR link: LYRM7 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 5:130506503..130541119

HGNC Gene: LYR motif containing 7;
Ensembl_gene_id; ENSG00000186687; Refseq accession: NM_181705; OMIM ID: 615831; VEGA_ids: OTTHUMG00000128994; uniprot_ids: Q5U5X0
98. MSeqDR link: MARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:198570087..198573113

HGNC Gene: methionyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000247626; Refseq accession: NM_138395; OMIM ID: 609728; VEGA_ids: OTTHUMG00000154487; uniprot_ids: Q96GW9
99. MSeqDR link: MFF Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:228189867..228222550

HGNC Gene: mitochondrial fission factor;
Ensembl_gene_id; ENSG00000168958; Refseq accession: NM_020194; OMIM ID: 614785; VEGA_ids: OTTHUMG00000133180; uniprot_ids: Q9GZY8
100. MSeqDR link: MFN2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:12040238..12073571

HGNC Gene: mitofusin 2;
Ensembl_gene_id; ENSG00000116688; Refseq accession: NM_014874; OMIM ID: 608507; VEGA_ids: OTTHUMG00000002392; uniprot_ids: O95140
101. MSeqDR link: MGME1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 20:17949556..17971765

HGNC Gene: mitochondrial genome maintenance exonuclease 1;
Ensembl_gene_id; ENSG00000125871; Refseq accession: NM_052865; OMIM ID: 615076; VEGA_ids: OTTHUMG00000031955; uniprot_ids: Q9BQP7
102. MSeqDR link: MICU1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 10:74127098..74385899

HGNC Gene: mitochondrial calcium uptake 1;
Ensembl_gene_id; ENSG00000107745; Refseq accession: NM_006077; OMIM ID: 605084; VEGA_ids: OTTHUMG00000018437; uniprot_ids: Q9BPX6
103. MSeqDR link: MICU2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 13:22066836..22178353

HGNC Gene: mitochondrial calcium uptake 2;
Ensembl_gene_id; ENSG00000165487; Refseq accession: NM_152726; OMIM ID: 610632; VEGA_ids: OTTHUMG00000067414; uniprot_ids: Q8IYU8
104. MSeqDR link: MIPEP Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 13:24304328..24463558

HGNC Gene: mitochondrial intermediate peptidase;
Ensembl_gene_id; ENSG00000027001; Refseq accession: NM_005932; OMIM ID: 602241; VEGA_ids: OTTHUMG00000016573; uniprot_ids: Q99797
105. MSeqDR link: MPC1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:166778407..166796486

HGNC Gene: mitochondrial pyruvate carrier 1;
Ensembl_gene_id; ENSG00000060762; Refseq accession: NM_016098; OMIM ID: 614738; VEGA_ids: OTTHUMG00000015999; uniprot_ids: Q9Y5U8
106. MSeqDR link: MPV17 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:27532360..27548547

HGNC Gene: MPV17, mitochondrial inner membrane protein;
Ensembl_gene_id; ENSG00000115204; Refseq accession: NM_002437; OMIM ID: 137960; VEGA_ids: OTTHUMG00000097074; uniprot_ids: P39210
107. MSeqDR link: MRPL3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:131181056..131221827

HGNC Gene: mitochondrial ribosomal protein L3;
Ensembl_gene_id; ENSG00000114686; Refseq accession: NM_007208; OMIM ID: 607118; VEGA_ids: OTTHUMG00000159607; uniprot_ids: P09001
108. MSeqDR link: MRPL44 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:224822121..224832431

HGNC Gene: mitochondrial ribosomal protein L44;
Ensembl_gene_id; ENSG00000135900; Refseq accession: NM_022915; OMIM ID: 611849; VEGA_ids: OTTHUMG00000133164; uniprot_ids: Q9H9J2
109. MSeqDR link: MRPS16 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 10:75006510..75012451

HGNC Gene: mitochondrial ribosomal protein S16;
Ensembl_gene_id; ENSG00000182180; Refseq accession: NM_016065; OMIM ID: 609204; VEGA_ids: OTTHUMG00000018454; uniprot_ids: Q9Y3D3
110. MSeqDR link: MRPS22 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:138724648..139076065

HGNC Gene: mitochondrial ribosomal protein S22;
Ensembl_gene_id; ENSG00000175110; Refseq accession: NM_020191; OMIM ID: 605810; VEGA_ids: OTTHUMG00000159910; uniprot_ids: P82650
111. MSeqDR link: MRPS34 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:1821891..1823156

HGNC Gene: mitochondrial ribosomal protein S34;
Ensembl_gene_id; ENSG00000074071; Refseq accession: NM_023936; OMIM ID: 611994; VEGA_ids: OTTHUMG00000128636; uniprot_ids: P82930
112. MSeqDR link: MSTO1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:155579979..155718153

HGNC Gene: misato 1, mitochondrial distribution and morphology regulator;
Ensembl_gene_id; ENSG00000125459; Refseq accession: NM_018116; OMIM ID: 0; VEGA_ids: OTTHUMG00000014014; uniprot_ids: Q9BUK6
113. MSeqDR link: MT-ATP6 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:8527..9207

HGNC Gene: mitochondrially encoded ATP synthase 6;
Ensembl_gene_id; ENSG00000198899; Refseq accession: YP_003024031; OMIM ID: 516060; VEGA_ids: ; uniprot_ids: P00846
114. MSeqDR link: MT-ATP8 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:8366..8572

HGNC Gene: mitochondrially encoded ATP synthase 8;
Ensembl_gene_id; ENSG00000228253; Refseq accession: YP_003024030; OMIM ID: 516070; VEGA_ids: ; uniprot_ids: P03928
115. MSeqDR link: MT-CO1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:5904..7445

HGNC Gene: mitochondrially encoded cytochrome c oxidase I;
Ensembl_gene_id; ENSG00000198804; Refseq accession: YP_003024028; OMIM ID: 516030; VEGA_ids: ; uniprot_ids: P00395
116. MSeqDR link: MT-CO2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:7586..8269

HGNC Gene: mitochondrially encoded cytochrome c oxidase II;
Ensembl_gene_id; ENSG00000198712; Refseq accession: YP_003024029; OMIM ID: 516040; VEGA_ids: ; uniprot_ids: P00403
117. MSeqDR link: MT-CO3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:9207..9990

HGNC Gene: mitochondrially encoded cytochrome c oxidase III;
Ensembl_gene_id; ENSG00000198938; Refseq accession: YP_003024032; OMIM ID: 516050; VEGA_ids: ; uniprot_ids: P00414
118. MSeqDR link: MT-CYB Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:14747..15887

HGNC Gene: mitochondrially encoded cytochrome b;
Ensembl_gene_id; ENSG00000198727; Refseq accession: YP_003024038; OMIM ID: 516020; VEGA_ids: ; uniprot_ids: P00156
119. MSeqDR link: MT-ND1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:3307..4262

HGNC Gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1;
Ensembl_gene_id; ENSG00000198888; Refseq accession: YP_003024026; OMIM ID: 516000; VEGA_ids: ; uniprot_ids: P03886
120. MSeqDR link: MT-ND2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:4470..5511

HGNC Gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2;
Ensembl_gene_id; ENSG00000198763; Refseq accession: YP_003024027; OMIM ID: 516001; VEGA_ids: ; uniprot_ids: P03891
121. MSeqDR link: MT-ND3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:10059..10404

HGNC Gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3;
Ensembl_gene_id; ENSG00000198840; Refseq accession: YP_003024033; OMIM ID: 516002; VEGA_ids: ; uniprot_ids: P03897
122. MSeqDR link: MT-ND4 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:10760..12137

HGNC Gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4;
Ensembl_gene_id; ENSG00000198886; Refseq accession: YP_003024035; OMIM ID: 516003; VEGA_ids: ; uniprot_ids: P03905
123. MSeqDR link: MT-ND4L Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:10470..10766

HGNC Gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L;
Ensembl_gene_id; ENSG00000212907; Refseq accession: YP_003024034; OMIM ID: 516004; VEGA_ids: ; uniprot_ids: P03901
124. MSeqDR link: MT-ND5 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:12337..14148

HGNC Gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5;
Ensembl_gene_id; ENSG00000198786; Refseq accession: YP_003024036; OMIM ID: 516005; VEGA_ids: ; uniprot_ids: P03915
125. MSeqDR link: MT-ND6 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:14149..14673

HGNC Gene: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6;
Ensembl_gene_id; ENSG00000198695; Refseq accession: YP_003024037; OMIM ID: 516006; VEGA_ids: ; uniprot_ids: P03923
126. MSeqDR link: MT-RNR1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:648..1601

HGNC Gene: mitochondrially encoded 12S RNA;
Ensembl_gene_id; ENSG00000211459; Refseq accession: ; OMIM ID: 561000; VEGA_ids: ; uniprot_ids: A0A0C5B5G6
127. MSeqDR link: MT-RNR2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:1671..3229

HGNC Gene: mitochondrially encoded 16S RNA;
Ensembl_gene_id; ENSG00000210082; Refseq accession: NC_012920; OMIM ID: 561010; VEGA_ids: ; uniprot_ids: Q8IVG9
128. MSeqDR link: MT-TA Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:5587..5655

HGNC Gene: mitochondrially encoded tRNA alanine;
Ensembl_gene_id; ENSG00000210127; Refseq accession: ; OMIM ID: 590000; VEGA_ids: ; uniprot_ids:
129. MSeqDR link: MT-TC Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:5761..5826

HGNC Gene: mitochondrially encoded tRNA cysteine;
Ensembl_gene_id; ENSG00000210140; Refseq accession: ; OMIM ID: 590020; VEGA_ids: ; uniprot_ids:
130. MSeqDR link: MT-TD Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:7518..7585

HGNC Gene: mitochondrially encoded tRNA aspartic acid;
Ensembl_gene_id; ENSG00000210154; Refseq accession: ; OMIM ID: 590015; VEGA_ids: ; uniprot_ids:
131. MSeqDR link: MT-TE Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:14674..14742

HGNC Gene: mitochondrially encoded tRNA glutamic acid;
Ensembl_gene_id; ENSG00000210194; Refseq accession: ; OMIM ID: 590025; VEGA_ids: ; uniprot_ids:
132. MSeqDR link: MT-TF Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:577..647

HGNC Gene: mitochondrially encoded tRNA phenylalanine;
Ensembl_gene_id; ENSG00000210049; Refseq accession: ; OMIM ID: 590070; VEGA_ids: ; uniprot_ids:
133. MSeqDR link: MT-TG Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:9991..10058

HGNC Gene: mitochondrially encoded tRNA glycine;
Ensembl_gene_id; ENSG00000210164; Refseq accession: ; OMIM ID: 590035; VEGA_ids: ; uniprot_ids:
134. MSeqDR link: MT-TH Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:12138..12206

HGNC Gene: mitochondrially encoded tRNA histidine;
Ensembl_gene_id; ENSG00000210176; Refseq accession: ; OMIM ID: 590040; VEGA_ids: ; uniprot_ids:
135. MSeqDR link: MT-TI Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:4263..4331

HGNC Gene: mitochondrially encoded tRNA isoleucine;
Ensembl_gene_id; ENSG00000210100; Refseq accession: ; OMIM ID: 590045; VEGA_ids: ; uniprot_ids:
136. MSeqDR link: MT-TK Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:8295..8364

HGNC Gene: mitochondrially encoded tRNA lysine;
Ensembl_gene_id; ENSG00000210156; Refseq accession: ; OMIM ID: 590060; VEGA_ids: ; uniprot_ids:
137. MSeqDR link: MT-TL1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:3230..3304

HGNC Gene: mitochondrially encoded tRNA leucine 1 (UUA/G);
Ensembl_gene_id; ENSG00000209082; Refseq accession: ; OMIM ID: 590050; VEGA_ids: ; uniprot_ids:
138. MSeqDR link: MT-TL2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:12266..12336

HGNC Gene: mitochondrially encoded tRNA leucine 2 (CUN);
Ensembl_gene_id; ENSG00000210191; Refseq accession: ; OMIM ID: 590055; VEGA_ids: ; uniprot_ids:
139. MSeqDR link: MT-TM Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:4402..4469

HGNC Gene: mitochondrially encoded tRNA methionine;
Ensembl_gene_id; ENSG00000210112; Refseq accession: ; OMIM ID: 590065; VEGA_ids: ; uniprot_ids:
140. MSeqDR link: MT-TN Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:5657..5729

HGNC Gene: mitochondrially encoded tRNA asparagine;
Ensembl_gene_id; ENSG00000210135; Refseq accession: ; OMIM ID: 590010; VEGA_ids: ; uniprot_ids:
141. MSeqDR link: MT-TP Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:15956..16023

HGNC Gene: mitochondrially encoded tRNA proline;
Ensembl_gene_id; ENSG00000210196; Refseq accession: ; OMIM ID: 590075; VEGA_ids: ; uniprot_ids:
142. MSeqDR link: MT-TQ Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:4329..4400

HGNC Gene: mitochondrially encoded tRNA glutamine;
Ensembl_gene_id; ENSG00000210107; Refseq accession: ; OMIM ID: 590030; VEGA_ids: ; uniprot_ids:
143. MSeqDR link: MT-TR Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:10405..10469

HGNC Gene: mitochondrially encoded tRNA arginine;
Ensembl_gene_id; ENSG00000210174; Refseq accession: ; OMIM ID: 590005; VEGA_ids: ; uniprot_ids:
144. MSeqDR link: MT-TS1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:7446..7514

HGNC Gene: mitochondrially encoded tRNA serine 1 (UCN);
Ensembl_gene_id; ENSG00000210151; Refseq accession: ; OMIM ID: 590080; VEGA_ids: ; uniprot_ids:
145. MSeqDR link: MT-TS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:12207..12265

HGNC Gene: mitochondrially encoded tRNA serine 2 (AGU/C);
Ensembl_gene_id; ENSG00000210184; Refseq accession: ; OMIM ID: 590085; VEGA_ids: ; uniprot_ids:
146. MSeqDR link: MT-TT Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:15888..15953

HGNC Gene: mitochondrially encoded tRNA threonine;
Ensembl_gene_id; ENSG00000210195; Refseq accession: ; OMIM ID: 590090; VEGA_ids: ; uniprot_ids:
147. MSeqDR link: MT-TV Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:1602..1670

HGNC Gene: mitochondrially encoded tRNA valine;
Ensembl_gene_id; ENSG00000210077; Refseq accession: ; OMIM ID: 590105; VEGA_ids: ; uniprot_ids:
148. MSeqDR link: MT-TW Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:5512..5579

HGNC Gene: mitochondrially encoded tRNA tryptophan;
Ensembl_gene_id; ENSG00000210117; Refseq accession: ; OMIM ID: 590095; VEGA_ids: ; uniprot_ids:
149. MSeqDR link: MT-TY Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) M:5826..5891

HGNC Gene: mitochondrially encoded tRNA tyrosine;
Ensembl_gene_id; ENSG00000210144; Refseq accession: ; OMIM ID: 590100; VEGA_ids: ; uniprot_ids:
150. MSeqDR link: MTFMT Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 15:65294845..65321977

HGNC Gene: mitochondrial methionyl-tRNA formyltransferase;
Ensembl_gene_id; ENSG00000103707; Refseq accession: NM_139242; OMIM ID: 611766; VEGA_ids: OTTHUMG00000172371; uniprot_ids: Q96DP5
151. MSeqDR link: MTO1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:74171301..74218959

HGNC Gene: mitochondrial tRNA translation optimization 1;
Ensembl_gene_id; ENSG00000135297; Refseq accession: NM_012123; OMIM ID: 614667; VEGA_ids: OTTHUMG00000015032; uniprot_ids: Q9Y2Z2
152. MSeqDR link: MTPAP Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 10:30598730..30663377

HGNC Gene: mitochondrial poly(A) polymerase;
Ensembl_gene_id; ENSG00000107951; Refseq accession: NM_018109; OMIM ID: 613669; VEGA_ids: OTTHUMG00000017895; uniprot_ids: Q9NVV4
153. MSeqDR link: NARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:78147007..78285919

HGNC Gene: asparaginyl-tRNA synthetase 2, mitochondrial (putative);
Ensembl_gene_id; ENSG00000137513; Refseq accession: NM_024678; OMIM ID: 612803; VEGA_ids: OTTHUMG00000166702; uniprot_ids: Q96I59
154. MSeqDR link: NDUFA1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) X:119005450..119010625

HGNC Gene: NADH:ubiquinone oxidoreductase subunit A1;
Ensembl_gene_id; ENSG00000125356; Refseq accession: NM_004541; OMIM ID: 300078; VEGA_ids: OTTHUMG00000022287; uniprot_ids: O15239
155. MSeqDR link: NDUFA10 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:240831867..240964819

HGNC Gene: NADH:ubiquinone oxidoreductase subunit A10;
Ensembl_gene_id; ENSG00000130414; Refseq accession: NM_004544; OMIM ID: 603835; VEGA_ids: OTTHUMG00000133350; uniprot_ids: O95299
156. MSeqDR link: NDUFA11 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:5891287..5904017

HGNC Gene: NADH:ubiquinone oxidoreductase subunit A11;
Ensembl_gene_id; ENSG00000174886; Refseq accession: NM_175614; OMIM ID: 612638; VEGA_ids: OTTHUMG00000180617; uniprot_ids: Q86Y39
157. MSeqDR link: NDUFA12 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:95290831..95397546

HGNC Gene: NADH:ubiquinone oxidoreductase subunit A12;
Ensembl_gene_id; ENSG00000184752; Refseq accession: NM_018838; OMIM ID: 614530; VEGA_ids: OTTHUMG00000170098; uniprot_ids: Q9UI09
158. MSeqDR link: NDUFA13 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:19626545..19644285

HGNC Gene: NADH:ubiquinone oxidoreductase subunit A13;
Ensembl_gene_id; ENSG00000186010; Refseq accession: NM_015965; OMIM ID: 609435; VEGA_ids: OTTHUMG00000162211; uniprot_ids: Q9P0J0
159. MSeqDR link: NDUFA2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 5:140018325..140027370

HGNC Gene: NADH:ubiquinone oxidoreductase subunit A2;
Ensembl_gene_id; ENSG00000131495; Refseq accession: NM_002488; OMIM ID: 602137; VEGA_ids: OTTHUMG00000129505; uniprot_ids: O43678
160. MSeqDR link: NDUFA4 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 7:10971578..10979883

HGNC Gene: NDUFA4, mitochondrial complex associated;
Ensembl_gene_id; ENSG00000189043; Refseq accession: NM_002489; OMIM ID: 603833; VEGA_ids: OTTHUMG00000023880; uniprot_ids: O00483
161. MSeqDR link: NDUFA9 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:4758261..4798454

HGNC Gene: NADH:ubiquinone oxidoreductase subunit A9;
Ensembl_gene_id; ENSG00000139180; Refseq accession: NM_005002; OMIM ID: 603834; VEGA_ids: OTTHUMG00000168224; uniprot_ids: Q16795
162. MSeqDR link: NDUFAF1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 15:41679551..41694717

HGNC Gene: NADH:ubiquinone oxidoreductase complex assembly factor 1;
Ensembl_gene_id; ENSG00000137806; Refseq accession: NM_016013; OMIM ID: 606934; VEGA_ids: OTTHUMG00000130340; uniprot_ids: Q9Y375
163. MSeqDR link: NDUFAF2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 5:60240956..60448853

HGNC Gene: NADH:ubiquinone oxidoreductase complex assembly factor 2;
Ensembl_gene_id; ENSG00000164182; Refseq accession: NM_174889; OMIM ID: 609653; VEGA_ids: OTTHUMG00000131221; uniprot_ids: Q8N183
164. MSeqDR link: NDUFAF3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:49057892..49060928

HGNC Gene: NADH:ubiquinone oxidoreductase complex assembly factor 3;
Ensembl_gene_id; ENSG00000178057; Refseq accession: NM_199069; OMIM ID: 612911; VEGA_ids: OTTHUMG00000156773; uniprot_ids: Q9BU61
165. MSeqDR link: NDUFAF4 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:97337189..97345757

HGNC Gene: NADH:ubiquinone oxidoreductase complex assembly factor 4;
Ensembl_gene_id; ENSG00000123545; Refseq accession: NM_014165; OMIM ID: 611776; VEGA_ids: OTTHUMG00000015246; uniprot_ids: Q9P032
166. MSeqDR link: NDUFAF5 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 20:13765596..13799067

HGNC Gene: NADH:ubiquinone oxidoreductase complex assembly factor 5;
Ensembl_gene_id; ENSG00000101247; Refseq accession: NM_001039375; OMIM ID: 612360; VEGA_ids: OTTHUMG00000031909; uniprot_ids: Q5TEU4
167. MSeqDR link: NDUFAF6 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 8:95907995..96128683

HGNC Gene: NADH:ubiquinone oxidoreductase complex assembly factor 6;
Ensembl_gene_id; ENSG00000156170; Refseq accession: NM_152416; OMIM ID: 612392; VEGA_ids: OTTHUMG00000150173; uniprot_ids: Q330K2
168. MSeqDR link: NDUFB10 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:2009509..2011976

HGNC Gene: NADH:ubiquinone oxidoreductase subunit B10;
Ensembl_gene_id; ENSG00000140990; Refseq accession: NM_004548; OMIM ID: 603843; VEGA_ids: OTTHUMG00000128709; uniprot_ids: O96000
169. MSeqDR link: NDUFB11 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) X:47001615..47004903

HGNC Gene: NADH:ubiquinone oxidoreductase subunit B11;
Ensembl_gene_id; ENSG00000147123; Refseq accession: NM_019056; OMIM ID: 300403; VEGA_ids: OTTHUMG00000021433; uniprot_ids: Q9NX14
170. MSeqDR link: NDUFB3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:201936156..201950473

HGNC Gene: NADH:ubiquinone oxidoreductase subunit B3;
Ensembl_gene_id; ENSG00000119013; Refseq accession: NM_002491; OMIM ID: 603839; VEGA_ids: OTTHUMG00000132820; uniprot_ids: O43676
171. MSeqDR link: NDUFS1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:206979541..207024327

HGNC Gene: NADH:ubiquinone oxidoreductase core subunit S1;
Ensembl_gene_id; ENSG00000023228; Refseq accession: NM_005006; OMIM ID: 157655; VEGA_ids: OTTHUMG00000132892; uniprot_ids: P28331
172. MSeqDR link: NDUFS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:161166894..161184185

HGNC Gene: NADH:ubiquinone oxidoreductase core subunit S2;
Ensembl_gene_id; ENSG00000158864; Refseq accession: NM_004550; OMIM ID: 602985; VEGA_ids: OTTHUMG00000034344; uniprot_ids: O75306
173. MSeqDR link: NDUFS3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:47586888..47606114

HGNC Gene: NADH:ubiquinone oxidoreductase core subunit S3;
Ensembl_gene_id; ENSG00000213619; Refseq accession: NM_004551; OMIM ID: 603846; VEGA_ids: OTTHUMG00000166893; uniprot_ids: O75489
174. MSeqDR link: NDUFS4 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 5:52856463..52979168

HGNC Gene: NADH:ubiquinone oxidoreductase subunit S4;
Ensembl_gene_id; ENSG00000164258; Refseq accession: NM_002495; OMIM ID: 602694; VEGA_ids: OTTHUMG00000096987; uniprot_ids: O43181
175. MSeqDR link: NDUFS6 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 5:1801514..1816719

HGNC Gene: NADH:ubiquinone oxidoreductase subunit S6;
Ensembl_gene_id; ENSG00000145494; Refseq accession: NM_004553; OMIM ID: 603848; VEGA_ids: OTTHUMG00000090372; uniprot_ids: O75380
176. MSeqDR link: NDUFS7 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:1383526..1395583

HGNC Gene: NADH:ubiquinone oxidoreductase core subunit S7;
Ensembl_gene_id; ENSG00000115286; Refseq accession: NM_024407; OMIM ID: 601825; VEGA_ids: OTTHUMG00000168077; uniprot_ids: O75251
177. MSeqDR link: NDUFS8 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:67798084..67804111

HGNC Gene: NADH:ubiquinone oxidoreductase core subunit S8;
Ensembl_gene_id; ENSG00000110717; Refseq accession: NM_002496; OMIM ID: 602141; VEGA_ids: OTTHUMG00000167331; uniprot_ids: O00217
178. MSeqDR link: NDUFV1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:67374323..67380006

HGNC Gene: NADH:ubiquinone oxidoreductase core subunit V1;
Ensembl_gene_id; ENSG00000167792; Refseq accession: NM_007103; OMIM ID: 161015; VEGA_ids: OTTHUMG00000166215; uniprot_ids: P49821
179. MSeqDR link: NDUFV2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 18:9102628..9134343

HGNC Gene: NADH:ubiquinone oxidoreductase core subunit V2;
Ensembl_gene_id; ENSG00000178127; Refseq accession: NM_021074; OMIM ID: 600532; VEGA_ids: OTTHUMG00000131593; uniprot_ids: P19404
180. MSeqDR link: NF2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 22:29999545..30094587

HGNC Gene: neurofibromin 2;
Ensembl_gene_id; ENSG00000186575; Refseq accession: NM_000268; OMIM ID: 607379; VEGA_ids: OTTHUMG00000030727; uniprot_ids: P35240
181. MSeqDR link: NFU1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:69622882..69664760

HGNC Gene: NFU1 iron-sulfur cluster scaffold;
Ensembl_gene_id; ENSG00000169599; Refseq accession: NM_015700; OMIM ID: 608100; VEGA_ids: OTTHUMG00000152668; uniprot_ids: Q9UMS0
182. MSeqDR link: NGLY1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:25760435..25831530

HGNC Gene: N-glycanase 1;
Ensembl_gene_id; ENSG00000151092; Refseq accession: NM_001145293; OMIM ID: 610661; VEGA_ids: OTTHUMG00000155600; uniprot_ids: Q96IV0
183. MSeqDR link: NUBPL Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 14:31959162..32330430

HGNC Gene: nucleotide binding protein like;
Ensembl_gene_id; ENSG00000151413; Refseq accession: NM_025152; OMIM ID: 613621; VEGA_ids: OTTHUMG00000170521; uniprot_ids: Q8TB37
184. MSeqDR link: OPA1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:193310933..193415612

HGNC Gene: OPA1, mitochondrial dynamin like GTPase;
Ensembl_gene_id; ENSG00000198836; Refseq accession: NM_130837; OMIM ID: 605290; VEGA_ids: OTTHUMG00000149897; uniprot_ids: O60313
185. MSeqDR link: OPA3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:46030685..46105470

HGNC Gene: OPA3, outer mitochondrial membrane lipid metabolism regulator;
Ensembl_gene_id; ENSG00000125741; Refseq accession: NM_001017989; OMIM ID: 606580; VEGA_ids: OTTHUMG00000182125; uniprot_ids: Q9H6K4
186. MSeqDR link: PANK2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 20:3869486..3907605

HGNC Gene: pantothenate kinase 2;
Ensembl_gene_id; ENSG00000125779; Refseq accession: NM_024960; OMIM ID: 606157; VEGA_ids: OTTHUMG00000031768; uniprot_ids: Q9BZ23
187. MSeqDR link: PARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:55222571..55230187

HGNC Gene: prolyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000162396; Refseq accession: NM_152268; OMIM ID: 612036; VEGA_ids: OTTHUMG00000009915; uniprot_ids: Q7L3T8
188. MSeqDR link: PC Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:66615704..66725847

HGNC Gene: pyruvate carboxylase;
Ensembl_gene_id; ENSG00000173599; Refseq accession: NM_001040716; OMIM ID: 608786; VEGA_ids: OTTHUMG00000167099; uniprot_ids: P11498
189. MSeqDR link: PDHA1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) X:19362011..19379823

HGNC Gene: pyruvate dehydrogenase E1 alpha 1 subunit;
Ensembl_gene_id; ENSG00000131828; Refseq accession: NM_000284; OMIM ID: 300502; VEGA_ids: OTTHUMG00000021224; uniprot_ids: P08559
190. MSeqDR link: PDHA2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 4:96761239..96762625

HGNC Gene: pyruvate dehydrogenase E1 alpha 2 subunit;
Ensembl_gene_id; ENSG00000163114; Refseq accession: NM_005390; OMIM ID: 179061; VEGA_ids: OTTHUMG00000130990; uniprot_ids: P29803
191. MSeqDR link: PDHB Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:58413357..58419584

HGNC Gene: pyruvate dehydrogenase E1 beta subunit;
Ensembl_gene_id; ENSG00000168291; Refseq accession: NM_000925; OMIM ID: 179060; VEGA_ids: OTTHUMG00000159157; uniprot_ids: P11177
192. MSeqDR link: PDHX Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:34937376..35042138

HGNC Gene: pyruvate dehydrogenase complex component X;
Ensembl_gene_id; ENSG00000110435; Refseq accession: NM_003477; OMIM ID: 608769; VEGA_ids: OTTHUMG00000166491; uniprot_ids: O00330
193. MSeqDR link: PDP1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 8:94870035..94938294

HGNC Gene: pyruvate dehyrogenase phosphatase catalytic subunit 1;
Ensembl_gene_id; ENSG00000164951; Refseq accession: NM_018444; OMIM ID: 605993; VEGA_ids: OTTHUMG00000164356; uniprot_ids: Q9P0J1
194. MSeqDR link: PDSS1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 10:26986588..27035727

HGNC Gene: decaprenyl diphosphate synthase subunit 1;
Ensembl_gene_id; ENSG00000148459; Refseq accession: NM_001321978; OMIM ID: 607429; VEGA_ids: OTTHUMG00000017844; uniprot_ids: Q5T2R2
195. MSeqDR link: PDSS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:107473761..107780768

HGNC Gene: decaprenyl diphosphate synthase subunit 2;
Ensembl_gene_id; ENSG00000164494; Refseq accession: NM_020381; OMIM ID: 610564; VEGA_ids: OTTHUMG00000059359; uniprot_ids: Q86YH6
196. MSeqDR link: PET100 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:7694623..7696842

HGNC Gene: PET100 homolog;
Ensembl_gene_id; ENSG00000229833; Refseq accession: NM_001171155; OMIM ID: 614770; VEGA_ids: ; uniprot_ids: P0DJ07
197. MSeqDR link: PMPCA Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 9:139305110..139318213

HGNC Gene: peptidase, mitochondrial processing alpha subunit;
Ensembl_gene_id; ENSG00000165688; Refseq accession: NM_015160; OMIM ID: 613036; VEGA_ids: OTTHUMG00000020926; uniprot_ids: Q10713
198. MSeqDR link: PNPLA8 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 7:108110866..108210110

HGNC Gene: patatin like phospholipase domain containing 8;
Ensembl_gene_id; ENSG00000135241; Refseq accession: NM_015723; OMIM ID: 612123; VEGA_ids: OTTHUMG00000154870; uniprot_ids: Q9NP80
199. MSeqDR link: PNPT1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:55861400..55921045

HGNC Gene: polyribonucleotide nucleotidyltransferase 1;
Ensembl_gene_id; ENSG00000138035; Refseq accession: NM_033109; OMIM ID: 610316; VEGA_ids: OTTHUMG00000129335; uniprot_ids: Q8TCS8
200. MSeqDR link: POLG Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 15:89859534..89878092

HGNC Gene: DNA polymerase gamma, catalytic subunit;
Ensembl_gene_id; ENSG00000140521; Refseq accession: NM_002693; OMIM ID: 174763; VEGA_ids: OTTHUMG00000149646; uniprot_ids: P54098
201. MSeqDR link: POLG2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:62473902..62493154

HGNC Gene: DNA polymerase gamma 2, accessory subunit;
Ensembl_gene_id; ENSG00000256525; Refseq accession: NM_007215; OMIM ID: 604983; VEGA_ids: OTTHUMG00000178899; uniprot_ids: Q9UHN1
202. MSeqDR link: PSAP Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 10:73576055..73611126

HGNC Gene: prosaposin;
Ensembl_gene_id; ENSG00000197746; Refseq accession: NM_002778; OMIM ID: 176801; VEGA_ids: OTTHUMG00000018429; uniprot_ids: P07602
203. MSeqDR link: PUS1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:132413745..132428406

HGNC Gene: pseudouridylate synthase 1;
Ensembl_gene_id; ENSG00000177192; Refseq accession: NM_025215; OMIM ID: 608109; VEGA_ids: OTTHUMG00000128507; uniprot_ids: Q9Y606
204. MSeqDR link: RARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:88224096..88299721

HGNC Gene: arginyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000146282; Refseq accession: NM_020320; OMIM ID: 611524; VEGA_ids: OTTHUMG00000015178; uniprot_ids: Q5T160
205. MSeqDR link: RMND1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:151725989..151773259

HGNC Gene: required for meiotic nuclear division 1 homolog;
Ensembl_gene_id; ENSG00000155906; Refseq accession: NM_017909; OMIM ID: 614917; VEGA_ids: OTTHUMG00000015837; uniprot_ids: Q9NWS8
206. MSeqDR link: RNASEH1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:3592383..3606206

HGNC Gene: ribonuclease H1;
Ensembl_gene_id; ENSG00000171865; Refseq accession: NM_001286834; OMIM ID: 604123; VEGA_ids: OTTHUMG00000090279; uniprot_ids: O60930
207. MSeqDR link: RRM2B Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 8:103216730..103251346

HGNC Gene: ribonucleotide reductase regulatory TP53 inducible subunit M2B;
Ensembl_gene_id; ENSG00000048392; Refseq accession: NM_001172477; OMIM ID: 604712; VEGA_ids: OTTHUMG00000164776; uniprot_ids: Q7LG56
208. MSeqDR link: SARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:39405906..39440495

HGNC Gene: seryl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000104835; Refseq accession: NM_017827; OMIM ID: 612804; VEGA_ids: OTTHUMG00000182691; uniprot_ids: Q9NP81
209. MSeqDR link: SCN1A Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:166845670..166984523

HGNC Gene: sodium voltage-gated channel alpha subunit 1;
Ensembl_gene_id; ENSG00000144285; Refseq accession: NM_006920; OMIM ID: 182389; VEGA_ids: OTTHUMG00000044173; uniprot_ids: P35498
210. MSeqDR link: SCO1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:10583654..10601692

HGNC Gene: SCO1, cytochrome c oxidase assembly protein;
Ensembl_gene_id; ENSG00000133028; Refseq accession: NM_004589; OMIM ID: 603644; VEGA_ids: OTTHUMG00000130364; uniprot_ids: O75880
211. MSeqDR link: SCO2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 22:50961997..50964868

HGNC Gene: SCO2, cytochrome c oxidase assembly protein;
Ensembl_gene_id; ENSG00000130489; Refseq accession: NM_005138; OMIM ID: 604272; VEGA_ids: OTTHUMG00000191637; uniprot_ids: O43819
212. MSeqDR link: SDHA Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 5:218356..256815

HGNC Gene: succinate dehydrogenase complex flavoprotein subunit A;
Ensembl_gene_id; ENSG00000073578; Refseq accession: NM_004168; OMIM ID: 600857; VEGA_ids: OTTHUMG00000090275; uniprot_ids: P31040
213. MSeqDR link: SDHAF1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 19:36486090..36487220

HGNC Gene: succinate dehydrogenase complex assembly factor 1;
Ensembl_gene_id; ENSG00000205138; Refseq accession: NM_001042631; OMIM ID: 612848; VEGA_ids: OTTHUMG00000181745; uniprot_ids: A6NFY7
214. MSeqDR link: SDHB Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:17345217..17380665

HGNC Gene: succinate dehydrogenase complex iron sulfur subunit B;
Ensembl_gene_id; ENSG00000117118; Refseq accession: NM_003000; OMIM ID: 185470; VEGA_ids: OTTHUMG00000002289; uniprot_ids: P21912
215. MSeqDR link: SDHC Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:161284047..161332984

HGNC Gene: succinate dehydrogenase complex subunit C;
Ensembl_gene_id; ENSG00000143252; Refseq accession: NM_003001; OMIM ID: 602413; VEGA_ids: OTTHUMG00000034468; uniprot_ids: Q99643
216. MSeqDR link: SDHD Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:111957497..111990353

HGNC Gene: succinate dehydrogenase complex subunit D;
Ensembl_gene_id; ; Refseq accession: NM_003002; OMIM ID: 602690; VEGA_ids: OTTHUMG00000166997; uniprot_ids: O14521
217. MSeqDR link: SERAC1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:158530536..158589312

HGNC Gene: serine active site containing 1;
Ensembl_gene_id; ENSG00000122335; Refseq accession: NM_032861; OMIM ID: 614725; VEGA_ids: OTTHUMG00000015905; uniprot_ids: Q96JX3
218. MSeqDR link: SFXN4 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 10:120900279..120925179

HGNC Gene: sideroflexin 4;
Ensembl_gene_id; ENSG00000183605; Refseq accession: XM_058406; OMIM ID: 615564; VEGA_ids: OTTHUMG00000019147; uniprot_ids: Q6P4A7
219. MSeqDR link: SLC22A5 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 5:131705444..131731306

HGNC Gene: solute carrier family 22 member 5;
Ensembl_gene_id; ENSG00000197375; Refseq accession: NM_003060; OMIM ID: 603377; VEGA_ids: OTTHUMG00000059634; uniprot_ids: O76082
220. MSeqDR link: SLC25A1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 22:19163095..19166343

HGNC Gene: solute carrier family 25 member 1;
Ensembl_gene_id; ENSG00000100075; Refseq accession: NM_005984; OMIM ID: 190315; VEGA_ids: OTTHUMG00000150123; uniprot_ids: P53007
221. MSeqDR link: SLC25A10 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:79670404..79688042

HGNC Gene: solute carrier family 25 member 10;
Ensembl_gene_id; ENSG00000183048; Refseq accession: NM_001270888; OMIM ID: 606794; VEGA_ids: OTTHUMG00000178173; uniprot_ids: Q9UBX3
222. MSeqDR link: SLC25A12 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:172640880..172864766

HGNC Gene: solute carrier family 25 member 12;
Ensembl_gene_id; ENSG00000115840; Refseq accession: NM_003705; OMIM ID: 603667; VEGA_ids: OTTHUMG00000134290; uniprot_ids: O75746
223. MSeqDR link: SLC25A13 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 7:95749532..95951459

HGNC Gene: solute carrier family 25 member 13;
Ensembl_gene_id; ENSG00000004864; Refseq accession: NM_014251; OMIM ID: 603859; VEGA_ids: OTTHUMG00000023074; uniprot_ids: Q9UJS0
224. MSeqDR link: SLC25A15 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 13:41363548..41384247

HGNC Gene: solute carrier family 25 member 15;
Ensembl_gene_id; ENSG00000102743; Refseq accession: NM_014252; OMIM ID: 603861; VEGA_ids: OTTHUMG00000016776; uniprot_ids: Q9Y619
225. MSeqDR link: SLC25A19 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:73269073..73285591

HGNC Gene: solute carrier family 25 member 19;
Ensembl_gene_id; ENSG00000125454; Refseq accession: NM_021734; OMIM ID: 606521; VEGA_ids: OTTHUMG00000179607; uniprot_ids: Q9HC21
226. MSeqDR link: SLC25A20 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:48894369..48936426

HGNC Gene: solute carrier family 25 member 20;
Ensembl_gene_id; ENSG00000178537; Refseq accession: NM_000387; OMIM ID: 613698; VEGA_ids: OTTHUMG00000133538; uniprot_ids: O43772
227. MSeqDR link: SLC25A22 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:790475..798316

HGNC Gene: solute carrier family 25 member 22;
Ensembl_gene_id; ENSG00000177542; Refseq accession: NM_001191060; OMIM ID: 609302; VEGA_ids: OTTHUMG00000133310; uniprot_ids: Q9H936
228. MSeqDR link: SLC25A26 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:66119285..66438540

HGNC Gene: solute carrier family 25 member 26;
Ensembl_gene_id; ENSG00000144741; Refseq accession: NM_173471; OMIM ID: 611037; VEGA_ids: OTTHUMG00000149917; uniprot_ids: Q70HW3
229. MSeqDR link: SLC25A3 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:98987369..98995946

HGNC Gene: solute carrier family 25 member 3;
Ensembl_gene_id; ENSG00000075415; Refseq accession: NM_005888; OMIM ID: 600370; VEGA_ids: OTTHUMG00000170212; uniprot_ids: Q00325
230. MSeqDR link: SLC25A4 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 4:186064395..186071536

HGNC Gene: solute carrier family 25 member 4;
Ensembl_gene_id; ENSG00000151729; Refseq accession: NM_001151; OMIM ID: 103220; VEGA_ids: OTTHUMG00000134299; uniprot_ids: P12235
231. MSeqDR link: SLC6A8 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) X:152953554..152962048

HGNC Gene: solute carrier family 6 member 8;
Ensembl_gene_id; ENSG00000130821; Refseq accession: NM_001142805; OMIM ID: 300036; VEGA_ids: OTTHUMG00000024208; uniprot_ids: P48029
232. MSeqDR link: SPG7 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:89557325..89624176

HGNC Gene: SPG7, paraplegin matrix AAA peptidase subunit;
Ensembl_gene_id; ENSG00000197912; Refseq accession: NM_003119; OMIM ID: 602783; VEGA_ids: OTTHUMG00000138046; uniprot_ids: Q9UQ90
233. MSeqDR link: SSBP1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 7:141438121..141487722

HGNC Gene: single stranded DNA binding protein 1;
Ensembl_gene_id; ENSG00000106028; Refseq accession: NM_003143; OMIM ID: 600439; VEGA_ids: OTTHUMG00000157572; uniprot_ids: Q04837
234. MSeqDR link: STXBP1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 9:130374544..130457460

HGNC Gene: syntaxin binding protein 1;
Ensembl_gene_id; ENSG00000136854; Refseq accession: NM_003165; OMIM ID: 602926; VEGA_ids: OTTHUMG00000020713; uniprot_ids: P61764
235. MSeqDR link: SUCLA2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 13:48510622..48612125

HGNC Gene: succinate-CoA ligase ADP-forming beta subunit;
Ensembl_gene_id; ENSG00000136143; Refseq accession: NM_003850; OMIM ID: 603921; VEGA_ids: OTTHUMG00000016889; uniprot_ids: Q9P2R7
236. MSeqDR link: SUCLG1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 2:84650647..84687169

HGNC Gene: succinate-CoA ligase alpha subunit;
Ensembl_gene_id; ENSG00000163541; Refseq accession: NM_003849; OMIM ID: 611224; VEGA_ids: OTTHUMG00000130023; uniprot_ids: P53597
237. MSeqDR link: SURF1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 9:136218610..136223552

HGNC Gene: SURF1, cytochrome c oxidase assembly factor;
Ensembl_gene_id; ENSG00000148290; Refseq accession: NM_003172; OMIM ID: 185620; VEGA_ids: OTTHUMG00000020866; uniprot_ids: Q15526
238. MSeqDR link: TACO1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:61678231..61685725

HGNC Gene: translational activator of cytochrome c oxidase I;
Ensembl_gene_id; ENSG00000136463; Refseq accession: NM_016360; OMIM ID: 612958; VEGA_ids: OTTHUMG00000178904; uniprot_ids: Q9BSH4
239. MSeqDR link: TARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:150459887..150480078

HGNC Gene: threonyl-tRNA synthetase 2, mitochondrial (putative);
Ensembl_gene_id; ENSG00000143374; Refseq accession: NM_025150; OMIM ID: 612805; VEGA_ids: OTTHUMG00000012809; uniprot_ids: Q9BW92
240. MSeqDR link: TAZ Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) X:153639854..153650065

HGNC Gene: tafazzin;
Ensembl_gene_id; ENSG00000102125; Refseq accession: NM_000116; OMIM ID: 300394; VEGA_ids: OTTHUMG00000033190; uniprot_ids: Q16635
241. MSeqDR link: TIMM8A Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) X:100600649..100604184

HGNC Gene: translocase of inner mitochondrial membrane 8A;
Ensembl_gene_id; ENSG00000126953; Refseq accession: NM_004085; OMIM ID: 300356; VEGA_ids: OTTHUMG00000022028; uniprot_ids: O60220
242. MSeqDR link: TK2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:66541906..66586447

HGNC Gene: thymidine kinase 2, mitochondrial;
Ensembl_gene_id; ENSG00000166548; Refseq accession: NM_001172643; OMIM ID: 188250; VEGA_ids: OTTHUMG00000137499; uniprot_ids: O00142
243. MSeqDR link: TMEM126B Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 11:85339629..85347580

HGNC Gene: transmembrane protein 126B;
Ensembl_gene_id; ENSG00000171204; Refseq accession: NM_018480; OMIM ID: 615533; VEGA_ids: OTTHUMG00000166974; uniprot_ids: Q8IUX1
244. MSeqDR link: TMEM70 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 8:74884672..74895018

HGNC Gene: transmembrane protein 70;
Ensembl_gene_id; ENSG00000175606; Refseq accession: NM_017866; OMIM ID: 612418; VEGA_ids: OTTHUMG00000164502; uniprot_ids: Q9BUB7
245. MSeqDR link: TPTE2P5 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 13:41396432..41495890

HGNC Gene: transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 5;
Ensembl_gene_id; ENSG00000168852; Refseq accession: NR_038258; OMIM ID: 0; VEGA_ids: OTTHUMG00000016779; uniprot_ids:
246. MSeqDR link: TRIT1 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:40306723..40349183

HGNC Gene: tRNA isopentenyltransferase 1;
Ensembl_gene_id; ENSG00000043514; Refseq accession: NM_017646; OMIM ID: 0; VEGA_ids: OTTHUMG00000009245; uniprot_ids: Q9H3H1
247. MSeqDR link: TRMT10C Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 3:101280706..101285290

HGNC Gene: tRNA methyltransferase 10C, mitochondrial RNase P subunit;
Ensembl_gene_id; ENSG00000174173; Refseq accession: NM_017819; OMIM ID: 615423; VEGA_ids: OTTHUMG00000159114; uniprot_ids: Q7L0Y3
248. MSeqDR link: TRMT5 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 14:61438169..61448076

HGNC Gene: tRNA methyltransferase 5;
Ensembl_gene_id; ENSG00000126814; Refseq accession: NM_020810; OMIM ID: 611023; VEGA_ids: OTTHUMG00000171294; uniprot_ids: Q32P41
249. MSeqDR link: TRMU Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 22:46726772..46753237

HGNC Gene: tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase;
Ensembl_gene_id; ENSG00000100416; Refseq accession: NM_018006; OMIM ID: 610230; VEGA_ids: OTTHUMG00000150424; uniprot_ids: O75648
250. MSeqDR link: TSFM Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:58176372..58201854

HGNC Gene: Ts translation elongation factor, mitochondrial;
Ensembl_gene_id; ENSG00000123297; Refseq accession: NM_005726; OMIM ID: 604723; VEGA_ids: OTTHUMG00000153042; uniprot_ids: P43897
251. MSeqDR link: TTC19 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 17:15902694..15948329

HGNC Gene: tetratricopeptide repeat domain 19;
Ensembl_gene_id; ENSG00000011295; Refseq accession: NM_017775; OMIM ID: 613814; VEGA_ids: OTTHUMG00000059306; uniprot_ids: Q6DKK2
252. MSeqDR link: TUFM Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:28853732..28857729

HGNC Gene: Tu translation elongation factor, mitochondrial;
Ensembl_gene_id; ENSG00000178952; Refseq accession: NM_003321; OMIM ID: 602389; VEGA_ids: OTTHUMG00000097039; uniprot_ids: P49411
253. MSeqDR link: TYMP Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 22:50964181..50968485

HGNC Gene: thymidine phosphorylase;
Ensembl_gene_id; ENSG00000025708; Refseq accession: NM_001953; OMIM ID: 131222; VEGA_ids: OTTHUMG00000150249; uniprot_ids: P19971
254. MSeqDR link: UQCRC2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 16:21963981..21994981

HGNC Gene: ubiquinol-cytochrome c reductase core protein II;
Ensembl_gene_id; ENSG00000140740; Refseq accession: NM_003366; OMIM ID: 191329; VEGA_ids: OTTHUMG00000131585; uniprot_ids: P22695
255. MSeqDR link: UQCRQ Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 5:132202252..132203723

HGNC Gene: ubiquinol-cytochrome c reductase complex III subunit VII;
Ensembl_gene_id; ENSG00000164405; Refseq accession: NM_014402; OMIM ID: 612080; VEGA_ids: OTTHUMG00000059836; uniprot_ids: O14949
256. MSeqDR link: VARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 6:30876019..30894236

HGNC Gene: valyl-tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000137411; Refseq accession: NM_020442; OMIM ID: 612802; VEGA_ids: OTTHUMG00000031263; uniprot_ids: Q5ST30
257. MSeqDR link: WARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 1:119573839..119683294

HGNC Gene: tryptophanyl tRNA synthetase 2, mitochondrial;
Ensembl_gene_id; ENSG00000116874; Refseq accession: NM_015836; OMIM ID: 604733; VEGA_ids: OTTHUMG00000012335; uniprot_ids: Q9UGM6
258. MSeqDR link: YARS2 Portal   Exome

External link: HGNC Ensembl GTR   OMIM OMIM  NCBI

Gene region (GRCh37) 12:32880424..32908836

HGNC Gene: tyrosyl-tRNA synthetase 2;
Ensembl_gene_id; ENSG00000139131; Refseq accession: NM_015936; OMIM ID: 610957; VEGA_ids: OTTHUMG00000169454; uniprot_ids: Q9Y2Z4