| Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
| 1 | AARS2 Alanyl-tRNA synthetase 2, mitochondrial(M) | 6p21.1 |  | Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.31)
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| 2 | ACAD9 Acyl-CoA dehydrogenase family member 9(M) | 3q21.3 | | ACAD9-deficient mild myopathy - (9.25)
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| 3 | ACADVL Acyl-Coenzyme A dehydrogenase, very long chain(M) | 17p13 | | Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.24)
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| 4 | AFG3L2 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M) | 18p11-q11 | | Spinocerebellar ataxia 28 - SCA28 (13.25, 15.80)
| | Spastic ataxia 5 autosomal recessive - SPAX5 (13.25, 15.80)
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| 5 | AIFM1 Apoptosis-inducing factor, Mitochondria-associated 1(M) | Xq24-q26.1 | | Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (14.37, 16.63)
| | Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (14.37, 16.63)
| | Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (14.37, 16.63)
| | Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (14.37, 16.63)
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| 6 | ALDH18A1 Aldehyde deydrogenase 18 family, member A1 (M) | 10q24.1 | | Spastic paraplegia 9 - SPG9A (15.5, 15.25)
| | Spastic paraplegia 9A, autosomal recessive - SPG9B (15.5, 15.25)
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| 7 | ATP13A2 ATPase, type 13A2(M) | 1q36.13 | | Spastic paraplegia 78, autosomal recessive - SPG78 (15.66)
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| 8 | C12orf65 Chomosome 12 open reading frame 65(M) | 12q24.31 | | Spastic paraplegia 55, autosomal recessive - SPG55 (15.54)
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| 9 | C19orf12 Chromosome 19 open reading frame 12(M) | 19q12 | | Spastic paraplegia 43, autosomal recessive - SPG43 (15.42)
| | Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.42)
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| 10 | CASQ1 Calsequestrin 1 (fast-twitch, skeletal muscle)(M) | 1q21 | | Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates - (5.33)
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| 11 | CHCHD10 Coiled-coil-helix-coiled-coil-helix domain containing 10(M) | 22q11.2-q13.2 | | Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.36, 12.72, 16.61)
| | late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.36, 12.72, 16.61)
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| 12 | COQ2 Coenzyme Q2(M) | 4q21.23 | | Coenzyme Q10 deficiency 1 - COQ10D1 (16.71)
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| 13 | COQ4 Coenzyme Q4(M) | 9q34.11 | | Coenzyme Q10 deficiency 7 - COQ10D7 (16.75)
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| 14 | COQ6 Coenzyme Q6(M) | 14q24.3 | | Coenzyme Q10 deficiency 6 - COQ10D6 (16.74)
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| 15 | COQ7 Coenzyme Q7(M) | 16p12.3 | | Coenzyme Q10 deficiency 8 - COQ10D8 (16.76)
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| 16 | COQ9 Coenzyme Q9(M) | 16q21 | | Coenzyme Q10 deficiency 5 - COQ10D5 (16.73)
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| 17 | COX15 COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M) | 10q24 | | Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (10.36)
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| 18 | COX6A1 Cytochrome c oxidase subunit VIa polypeptide 1(M) | 12q24.31 | | CMT recessive intermediate D - CMTRID (14.81)
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| 19 | COX6A2 Cytochrome c-oxidase, subunit 6A2(M) | 16p11.2 | | Mitochondrial complex IV deficiency - (16.66)
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| 20 | CPT2 Carnitine palmitoyltransferase II(M) | 1p32 | | CPT deficiency, hepatic, type II - CPT2 (9.18)
| | Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.18)
| | Myopathy due to CPT II deficiency - CPT2 (9.18)
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| 21 | DGUOK Deoxyguanosine kinase(M) | 2p13.1 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.41, 16.45)
| | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.41, 16.45)
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| 22 | DNA2 DNA replication helicase 2(M) | 10q21.3 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.37)
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| 23 | ETFA Electron-transfer-flavoprotein, alpha polypeptide(M) | 15q23-q25 | | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.21)
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| 24 | ETFB Electron-transfer-flavoprotein, beta polypeptide(M) | 19q13.3-q13.4 | | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.22)
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| 25 | ETFDH Electron-transferring-flavoprotein dehydrogenase(M) | 4q32-q35 | | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.23)
| | Multiple acyl-coa dehydrogenase deficiency - MADD (9.23)
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| 26 | FARS2 Phenylalanine-tRNA synthetase 2(M) | 6p25.1 | | Spastic paraplegia 77, autosomal recessive - SPG77 (15.65)
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| 27 | FDX2 Ferredoxin(M) | 19p13.2 | | Sensory motor axonal neuropathy and myopathy - (16.77)
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| 28 | FLAD1 flavin adenine dinucleotide synthetase, homolog(M) | 1q21.3 | | Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)
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| 29 | FXN Frataxin(M) | 9q13-q21.1 | | Friedreich ataxia - FRDA (13.51)
| | Friedreich ataxia with retained reflexes - FARR (13.51)
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| 30 | HK1 Hexokinase 1(M) | 10q22.1 | | Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.29)
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| 31 | HSPD1 Heat shock 60kDa protein 1 (chaperonin)(M) | 2q33.1 | | Spastic paraplegia 13 - SPG13 (15.8)
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| 32 | IBA57 IBA57 homolog, iron-sulfur cluster assembly (M) | 1q42.13 | | Spastic paraplegia 74, autosomal recessive - SPG74 (15.62)
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| 33 | ISCU Iron-sulfur cluster scaffold homolog (E. coli)(M) | 12q24.1 | | myopathy with exercise intolerance, swedish type - (5.29)
| | myopathy with deficiency of succinate dehydrogenase and aconitase - (5.29)
| | myopathy with lactic acidosis, hereditary - HML (5.29)
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| 34 | KIF1B Kinesin family member 1B(M) | 1p36.2 | | Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.44)
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| 35 | MARS2 Methionyl-tRNA synthetase 2, mitochondrial(M) | 2q33-34 | | autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.78)
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| 36 | MFN2 Mitofusin 2(M) | 1p36.22 | | Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.45, 14.68, 14.72)
| | Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.45, 14.68, 14.72)
| | Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.45, 14.68, 14.72)
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| 37 | MGME1 Mitochondrial genome maintenance exonuclease 1(M) | 20p11.23 | | Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.52)
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| 38 | MPV17 MpV17 mitochondrial inner membrane protein(M) | 2p23.3 | | Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.75)
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| 39 | MRPL3 Mitochondrial ribosomal protein L3(M) | 3q21-q23 | | Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.32)
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| 40 | MRPL44 Mitochondrial ribosomal protein L44(M) | 2q36.1 | | Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.34)
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| 41 | MRPS25 Mitochondrial ribosomal protein S25(M) | 3p25.1 | | Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy - (16.68)
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| 42 | MSTO1 Misato homolog 1 (Drosophila)(M) | 1q22 | | Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.49, 13.93, 16.69)
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| 43 | MTO1 Mitochondrial tRNA translation optimization 1(M) | 6q13 | | Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.33)
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| 44 | MTPAP Mitochondrial poly(A) polymerase(M) | 10p12.1 | | Spastic ataxia 4 autosomal recessive - SPAX4 (15.79)
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| 45 | NDUFAF1 NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M) | 15q15.1 | | patient with HCM and isolated respiratory complex I deficiency - (10.29)
| | Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.29)
| | Mitochondrial complex 1 deficiency, nuclear type 11 - MC1DN11 (10.29)
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| 46 | OPA1 optic atrophy 1(M) | 3q28-q29 | | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.56, 16.58)
| | Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.56, 16.58)
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| 47 | PDK3 Pyruvate dehydrogenase kinase, isoenzyme 3(M) | Xp22.11 | | Charcot-Marie-Tooth neuropathy X-linked 6 - (14.39)
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| 48 | PNPLA8 Patatin-like phospholipase domain containing 8(M) | 7q31.1 | | Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.29)
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| 49 | POLG Polymerase (DNA directed), gamma(M) | 15q25 | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.85, 16.32, 16.38, 16.46, 16.47)
| | spinocerebellar ataxia with epilepsy, included - SCAE (13.85, 16.32, 16.38, 16.46, 16.47)
| | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.85, 16.32, 16.38, 16.46, 16.47)
| | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.85, 16.32, 16.38, 16.46, 16.47)
| | Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.85, 16.32, 16.38, 16.46, 16.47)
| | Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.85, 16.32, 16.38, 16.46, 16.47)
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| 50 | POLG2 Mitochondrial DNA polymerase, accessory subunit(M) | 17q24.1 | | progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.35)
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| 51 | PTRF Polymerase I and transcript release factor(M) | 17q21-q23 | | lipodystrophy, congenital generalized, type 4 - CGL4 (1.12)
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| 52 | PUS1 Pseudouridylate synthase 1(M) | 12q24.33 | | Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.59)
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| 53 | REEP1 Receptor accessory protein 1(M) | 2p11.2 | | Distal spinal muscular atrophy, type VB - DSMAVB (12.23, 15.12)
| | Spastic paraplegia 31 - SPG31 (12.23, 15.12)
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| 54 | RNASEH1 Ribonuclease H1(M) | 2p25.3 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.39)
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| 55 | RRM2B Ribonucleotide reductase M2 B (TP53 inducible)(M) | 8q23.1 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.36, 16.49, 16.50)
| | Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.36, 16.49, 16.50)
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| 56 | SCO2 Cytochrome c oxidase assembly protein(M) | 22q13.33 | | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 - CEMCOX1 (10.35, 14.88)
| | Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.35, 14.88)
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| 57 | SDHA Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M) | 5p15 | | Recessive neonatal isolated DC - (10.68)
| | Cardiomyopathy, dilated, 1GG - CMD1GG (10.68)
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| 58 | SLC25A20 Carnitine-acylcarnitine translocase(M) | 3p21.31 | | Carnitine-acylcarnitine translocase deficiency - CACT (9.20)
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| 59 | SLC25A4 Mitochondrial carrier; adenine nucleotide translocator(M) | 4q35 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.33, 16.53, 16.54)
| | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.33, 16.53, 16.54)
| | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.33, 16.53, 16.54)
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| 60 | SLC25A42 Solute carrier family 25 member 42(M) | 19p13.11 | | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.57)
| | Mitochondrial myopathy - (16.57)
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| 61 | SPG7 Paraplegin(M) | 16q24.3 | | Spastic paraplegia 7 - SPG7 (15.24)
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| 62 | SUCLA2 Succinate-CoA ligase, ADP-forming, beta subunit(M) | 13q12.2-q13.3 | | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5 (16.48)
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| 63 | SUCLG1 Succinate-CoA ligase, alpha subunit(M) | 2p11.2 | | Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (16.51)
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| 64 | SURF1 Surfeit 1(M) | 9q34.2 | | Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.32)
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| 65 | TIMM22 Translocase of inner mitochondrial membrane 22(M) | 17q13.3 | | Early onset of mitochondrial myopathy - (16.70)
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| 66 | TK2 Thymidine kinase 2, mitochondrial(M) | 16q22-q23 | | Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.40, 16.44)
| | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.40, 16.44)
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| 67 | TSFM Ts translation elongation factor, mitochondrial(M) | 12q14.1 | | Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.30)
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| 68 | YARS2 Tyrosyl-tRNA synthetase 2, mitochondrial(M) | 12p11.21 | | Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.60)
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