| 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 (10.33)
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| 2 | ACAD9 Acyl-CoA dehydrogenase family member 9(M) | 3q21.3 | | Mitochondrial complex 1 deficiency, nuclear type 20 - MC1DN20 (9.29)
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| 3 | ACADVL Acyl-Coenzyme A dehydrogenase, very long chain(M) | 17p13 | | Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.28)
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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, 15.95)
| | Spastic ataxia 5 autosomal recessive - SPAX5 (13.25, 15.95)
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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 (13.108, 14.40, 17.44)
| | Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (13.108, 14.40, 17.44)
| | Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (13.108, 14.40, 17.44)
| | Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (13.108, 14.40, 17.44)
| | Cerebellar ataxia with neuropathy, hearing loss and intellectual disability - (13.108, 14.40, 17.44)
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| 6 | ALDH18A1 Aldehyde deydrogenase 18 family, member A1 (M) | 10q24.1 | | Spastic paraplegia 9 - SPG9A (15.5, 15.26)
| | Spastic paraplegia 9A, autosomal recessive - SPG9B (15.5, 15.26)
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| 7 | APOO Apolipoprotein O(M) | Xp22.11 | | Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (16.32)
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| 8 | ATP13A2 ATPase, type 13A2(M) | 1q36.13 | | Spastic paraplegia 78, autosomal recessive - SPG78 (15.68)
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| 9 | C12orf65 Chomosome 12 open reading frame 65(M) | 12q24.31 | | Spastic paraplegia 55, autosomal recessive - SPG55 (15.55)
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| 10 | C19orf12 Chromosome 19 open reading frame 12(M) | 19q12 | | Spastic paraplegia 43, autosomal recessive - SPG43 (15.43)
| | Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.43)
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| 11 | CASQ1 Calsequestrin 1 (fast-twitch, skeletal muscle)(M) | 1q21 | | Vacuolar myopathy with CASQ1 aggregates - VMCQA (5.43)
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| 12 | CAVIN1 Caveolae-associated protein 1(M) | 17q21-q2 | | lipodystrophy, congenital generalized, type 4 - CGL4 (1.13)
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| 13 | CHCHD10 Coiled-coil-helix-coiled-coil-helix domain containing 10(M) | 22q11.2-q13.2 | | Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.45, 12.86, 16.24)
| | late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.45, 12.86, 16.24)
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| 14 | COQ2 Coenzyme Q2(M) | 4q21.23 | | Coenzyme Q10 deficiency 1 - COQ10D1 (17.48)
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| 15 | COQ4 Coenzyme Q4(M) | 9q34.11 | | Coenzyme Q10 deficiency 7 - COQ10D7 (15.99, 17.52)
| | Spastic ataxia 10, autosomal recessive - SPAX10 (15.99, 17.52)
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| 16 | COQ5 Coenzyme Q5 Methyltransferase(M) | 12q24.31 | | Coenzyme Q10 deficiency - COQ10D9 (13.110)
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| 17 | COQ6 Coenzyme Q6(M) | 14q24.3 | | Coenzyme Q10 deficiency 6 - COQ10D6 (17.51)
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| 18 | COQ7 Coenzyme Q7(M) | 16p12.3 | | Coenzyme Q10 deficiency 8 - COQ10D8 (12.13, 17.53)
| | Neuropathy, distal hereditary motor, autosomal recessive 9 - HMNR9 (12.13, 17.53)
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| 19 | COQ9 Coenzyme Q9(M) | 16q21 | | Coenzyme Q10 deficiency 5 - COQ10D5 (17.50)
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| 20 | COX15 COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M) | 10q24 | | Mitochondrial complex IV deficiency, nuclear type 6 - MC4DN6 (CEMCOX2) (10.38)
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| 21 | COX18 Cytochrome c Oxidase Assembly Factor COX18(M) | 4q13.3 | | Sensory-motor neuropathy with oculofacial apraxia - (12.48)
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| 22 | COX6A1 Cytochrome c oxidase subunit VIa polypeptide 1(M) | 12q24.31 | | CMT recessive intermediate D - CMTRID (14.89)
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| 23 | COX6A2 Cytochrome c-oxidase, subunit 6A2(M) | 16p11.2 | | Mitochondrial complex IV deficiency, nuclear type 18 - MC4DN18 (16.26)
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| 24 | CPT1C Carnitine Palmitoyltransferase 1C(M) | 19q13.33 | | Spastic paraplegia 73, autosomal dominant - SPG73 (15.21)
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| 25 | CPT2 Carnitine palmitoyltransferase II(M) | 1p32 | | CPT deficiency, hepatic, type II - CPT2 (9.22)
| | Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.22)
| | Myopathy due to CPT II deficiency - CPT2 (9.22)
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| 26 | DGUOK Deoxyguanosine kinase(M) | 2p13.1 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.10, 16.14)
| | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.10, 16.14)
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| 27 | DHTKD1 Dehydrogenase E1 and transketolase domain containing 1(M) | 10p14 | | Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.62)
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| 28 | DNA2 DNA replication helicase 2(M) | 10q21.3 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.6)
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| 29 | ETFA Electron-transfer-flavoprotein, alpha polypeptide(M) | 15q23-q25 | | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.25)
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| 30 | ETFB Electron-transfer-flavoprotein, beta polypeptide(M) | 19q13.3-q13.4 | | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.26)
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| 31 | ETFDH Electron-transferring-flavoprotein dehydrogenase(M) | 4q32-q35 | | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.27)
| | Multiple acyl-coa dehydrogenase deficiency - MADD (9.27)
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| 32 | FARS2 Phenylalanine-tRNA synthetase 2(M) | 6p25.1 | | Spastic paraplegia 77, autosomal recessive - SPG77 (15.67)
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| 33 | FDX2 Ferredoxin(M) | 19p13.2 | | Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - MEOAL (16.30)
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| 34 | FLAD1 flavin adenine dinucleotide synthetase, homolog(M) | 1q21.3 | | Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.34)
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| 35 | FXN Frataxin(M) | 9q13-q21.1 | | Friedreich ataxia - FRDA (13.57)
| | Friedreich ataxia with retained reflexes - FARR (13.57)
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| 36 | HK1 Hexokinase 1(M) | 10q22.1 | | Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.31)
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| 37 | HSPD1 Heat shock 60kDa protein 1 (chaperonin)(M) | 2q33.1 | | Spastic paraplegia 13 - SPG13 (15.8)
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| 38 | IBA57 IBA57 homolog, iron-sulfur cluster assembly (M) | 1q42.13 | | Spastic paraplegia 74, autosomal recessive - SPG74 (15.64)
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| 39 | ISCU Iron-sulfur cluster scaffold homolog (E. coli)(M) | 12q24.1 | | myopathy with exercise intolerance, swedish type - (5.39)
| | myopathy with deficiency of succinate dehydrogenase and aconitase - (5.39)
| | myopathy with lactic acidosis, hereditary - HML (5.39)
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| 40 | KIF1B Kinesin family member 1B(M) | 1p36.2 | | Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.47)
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| 41 | MARS2 Methionyl-tRNA synthetase 2, mitochondrial(M) | 2q33-34 | | autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.93)
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| 42 | MFN2 Mitofusin 2(M) | 1p36.22 | | Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.48, 14.72, 14.80)
| | Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.48, 14.72, 14.80)
| | Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.48, 14.72, 14.80)
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| 43 | MGME1 Mitochondrial genome maintenance exonuclease 1(M) | 20p11.23 | | Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.17)
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| 44 | MPV17 MpV17 mitochondrial inner membrane protein(M) | 2p23.3 | | Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.83)
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| 45 | MRPL3 Mitochondrial ribosomal protein L3(M) | 3q21-q23 | | Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.34)
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| 46 | MRPL44 Mitochondrial ribosomal protein L44(M) | 2q36.1 | | Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.36)
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| 47 | MRPS25 Mitochondrial ribosomal protein S25(M) | 3p25.1 | | Combined oxidative phosphorylation deficiency 50 - COXPD50 (17.47)
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| 48 | MSTO1 Misato homolog 1 (Drosophila)(M) | 1q22 | | Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.50, 13.106, 16.29)
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| 49 | MTO1 Mitochondrial tRNA translation optimization 1(M) | 6q13 | | Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.35)
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| 50 | MTPAP Mitochondrial poly(A) polymerase(M) | 10p12.1 | | Spastic ataxia 4 autosomal recessive - SPAX4 (15.94)
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| 51 | NDUFAF1 NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M) | 15q15.1 | | patient with HCM and isolated respiratory complex I deficiency - (10.31)
| | Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.31)
| | Mitochondrial complex 1 deficiency, nuclear type 11 - MC1DN11 (10.31)
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| 52 | OPA1 optic atrophy 1(M) | 3q28-q29 | | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.20, 16.21)
| | Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.20, 16.21)
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| 53 | PDK3 Pyruvate dehydrogenase kinase, isoenzyme 3(M) | Xp22.11 | | Charcot-Marie-Tooth neuropathy X-linked 6 - (14.42)
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| 54 | PMPCA Mitochondrial processing peptidase-alpha, KIAA0123(M) | 9q34.3 | | Autosomal recessive spinocerebellar ataxia, 2 - SCAR2 (13.62)
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| 55 | PNPLA8 Patatin-like phospholipase domain containing 8(M) | 7q31.1 | | Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.33)
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| 56 | POLG Polymerase (DNA directed), gamma(M) | 15q25 | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.98, 16.1, 16.7, 16.15, 16.16)
| | spinocerebellar ataxia with epilepsy, included - SCAE (13.98, 16.1, 16.7, 16.15, 16.16)
| | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.98, 16.1, 16.7, 16.15, 16.16)
| | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.98, 16.1, 16.7, 16.15, 16.16)
| | Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.98, 16.1, 16.7, 16.15, 16.16)
| | Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.98, 16.1, 16.7, 16.15, 16.16)
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| 57 | POLG2 Mitochondrial DNA polymerase, accessory subunit(M) | 17q24.1 | | progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.4)
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| 58 | PTRH2 Peptidyl-tRNA Hydrolase 2(M) | 17q23.1 | | Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD (16.28)
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| 59 | PUS1 Pseudouridylate synthase 1(M) | 12q24.33 | | Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.22)
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| 60 | REEP1 Receptor accessory protein 1(M) | 2p11.2 | | Neuropathy, distal hereditary motor, autosomal recessive 6 - HMNR6 (12.10, 12.34, 15.13)
| | Distal spinal muscular atrophy, type VB - DSMAVB (12.10, 12.34, 15.13)
| | Spastic paraplegia 31 - SPG31 (12.10, 12.34, 15.13)
| | Neuronopathy, distal hereditary motor, autosomal dominant 12 - HMND12 (12.10, 12.34, 15.13)
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| 61 | RNASEH1 Ribonuclease H1(M) | 2p25.3 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.8)
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| 62 | RRM2B Ribonucleotide reductase M2 B (TP53 inducible)(M) | 8q23.1 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.5, 17.40, 17.41)
| | Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.5, 17.40, 17.41)
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| 63 | SCO2 Cytochrome c oxidase assembly protein(M) | 22q13.33 | | Mitochondrial complex IV deficiency, nuclear type 2 - MC4DN2 (CEMCOX1) (10.37, 14.96)
| | Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.37, 14.96)
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| 64 | SDHA Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M) | 5p15 | | Recessive neonatal isolated DC - (10.70)
| | Cardiomyopathy, dilated, 1GG - CMD1GG (10.70)
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| 65 | SLC25A1 Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M) | 22q11.21 | | Presynaptic congenital myasthenic syndrome 23 - CMS23 (11.31)
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| 66 | SLC25A20 Carnitine-acylcarnitine translocase(M) | 3p21.31 | | Carnitine-acylcarnitine translocase deficiency - CACT (9.24)
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| 67 | SLC25A4 Mitochondrial carrier; adenine nucleotide translocator(M) | 4q35 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.2, 16.18, 16.19)
| | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.2, 16.18, 16.19)
| | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.2, 16.18, 16.19)
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| 68 | SLC25A42 Solute carrier family 25 member 42(M) | 19p13.11 | | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (17.38)
| | Mitochondrial myopathy - (17.38)
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| 69 | SLC25A46 solute carrier family 25 member 46(M) | 5q22.1 | | Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.104)
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| 70 | SPG7 Paraplegin(M) | 16q24.3 | | Spastic paraplegia 7 - SPG7 (15.25)
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| 71 | 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 (17.39)
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| 72 | SUCLG1 Succinate-CoA ligase, alpha subunit(M) | 2p11.2 | | Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (17.42)
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| 73 | SURF1 Surfeit 1(M) | 9q34.2 | | Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.34)
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| 74 | TIMM22 Translocase of inner mitochondrial membrane 22(M) | 17q13.3 | | Combined oxidative phosphorylation deficiency 43 - COXPD43 (16.25)
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| 75 | TK2 Thymidine kinase 2, mitochondrial(M) | 16q22-q23 | | Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.9, 16.13)
| | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.9, 16.13)
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| 76 | TMEM126B Transmembrane protein 126B(M) | 11q14.1 | | Mitochondrial complex I deficiency, nuclear type 29 - MC1DN29 (16.31)
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| 77 | TSFM Ts translation elongation factor, mitochondrial(M) | 12q14.1 | | Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.32)
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| 78 | VAMP1 Vesicle associated membrane protein (synaptobrevin 1)(M) | 12p13 | | ataxia, spastic, 1, autosomal dominant - SPAX1 (11.33, 15.91)
| | Presynaptic congenital myasthenic syndrome 25 - CMS25 (11.33, 15.91)
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| 79 | WWOX WW Domain-Containing Oxidoreductase(M) | 16q23.1-q23.2 | | Spinocerebellar ataxia, autosomal recessive 12 - SCAR12 (13.72)
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| 80 | YARS2 Tyrosyl-tRNA synthetase 2, mitochondrial(M) | 12p11.21 | | Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.23)
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