Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx EM analiza 304 genes asociados a enfermedades mitocondriales usando secuenciación de exoma completo mediante NGS y cubriendo además el ADN mitocondrial de forma específica.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype description and OMIM disease ID | |
---|---|---|---|---|---|
AARS2 | 132.9 | 0.99 | 0.98 | Combined oxidative phosphorylation deficiency 8 | 614096 |
AARS2 | 132.9 | 0.99 | 0.98 | Leukoencephalopathy, progressive, with ovarian failure, | 615889 |
ABAT | 103 | 1 | 0.99 | GABA-transaminase deficiency, | 613163 |
ACAD9 | 154 | 0.99 | 0.96 | Mitochondrial complex I deficiency due to ACAD9 deficiency, | 611126 |
ACO2 | 138.6 | 0.96 | 0.92 | Infantile cerebellar-retinal degeneration, | 614559 |
ACO2 | 138.6 | 0.96 | 0.92 | ?Optic atrophy 9 | 616289 |
ADCK3 | 146 | 0.99 | 0.98 | Coenzyme Q10 deficiency, primary, 4 | 612016 |
ADCK4 | 106.9 | 1 | 0.99 | Nephrotic syndrome, type 9 | 615573 |
AFG3L2 | 126.4 | 0.92 | 0.85 | Ataxia, spastic, 5 autosomal recessive, | 614487 |
AFG3L2 | 126.4 | 0.92 | 0.85 | Spinocerebellar ataxia 28 | 610246 |
AGK | 137.6 | 0.99 | 0.97 | Cataract 38 autosomal recessive, | 614691 |
AGK | 137.6 | 0.99 | 0.97 | Sengers syndrome, | 212350 |
AIFM1 | 133.5 | 1 | 0.99 | Combined oxidative phosphorylation deficiency 6 | 300816 |
AIFM1 | 133.5 | 1 | 0.99 | Cowchock syndrome, | 310490 |
AIFM1 | 133.5 | 1 | 0.99 | Deafness, X-linked 5 | 300614 |
ALDH1B1 | 224.6 | 1 | 1 | No OMIM phenotype | 300614 |
ALDH1B1 | 224.6 | 1 | 1 | Bladder cancer (Nickerson -2014 Clin Cancer Res 20,4935) | 300614 |
ANO10 | 126.6 | 0.99 | 0.96 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 |
APOA1BP | 95.9 | 0.99 | 0.99 | No OMIM phenotype | 613728 |
APOA1BP | 95.9 | 0.99 | 0.99 | Leukoencephalopathy, lethal infantile (Spiegel -2016 Neurogenetics epub,epub) | 613728 |
APOPT1 | 80.9 | 0.87 | 0.84 | Mitochondrial complex IV deficiency, | 220110 |
APTX | 136.6 | 0.93 | 0.9 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, | 208920 |
ATAD3A | 93 | 0.89 | 0.85 | No OMIM phenotype | 208920 |
ATAD3B | 86.3 | 0.85 | 0.78 | No OMIM phenotype | 208920 |
ATP5A1 | 81.9 | 0.94 | 0.85 | ?Combined oxidative phosphorylation deficiency 22 | 616045 |
ATP5A1 | 81.9 | 0.94 | 0.85 | ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 | 615228 |
ATP5B | 142.2 | 1 | 0.99 | No OMIM phenotype | 615228 |
ATP5C1 | 101.2 | 0.97 | 0.9 | No OMIM phenotype | 615228 |
ATP5D | 65.3 | 0.96 | 0.86 | No OMIM phenotype | 615228 |
ATP5E | 203.2 | 1 | 1 | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 | 614053 |
ATP5F1 | 86.1 | 0.96 | 0.86 | No OMIM phenotype | 614053 |
ATP5G1 | 112.3 | 1 | 0.97 | No OMIM phenotype | 614053 |
ATP5G2 | 84.3 | 0.99 | 0.97 | No OMIM phenotype | 614053 |
ATP5G3 | 125.7 | 1 | 1 | No OMIM phenotype | 614053 |
ATP5H | 106 | 0.88 | 0.7 | No OMIM phenotype | 614053 |
ATP5I | 91.6 | 1 | 1 | No OMIM phenotype | 614053 |
ATP5J | 73.3 | 0.99 | 0.92 | No OMIM phenotype | 614053 |
ATP5J2 | 129.9 | 0.99 | 0.99 | No OMIM phenotype | 614053 |
ATP5L | 123.5 | 0.99 | 0.99 | No OMIM phenotype | 614053 |
ATP5L2 | 172.7 | 1 | 1 | No OMIM phenotype | 614053 |
ATP5O | 119.2 | 0.98 | 0.92 | No OMIM phenotype | 614053 |
ATP5S | 139.8 | 1 | 0.99 | No OMIM phenotype | 614053 |
ATPAF1 | 96.8 | 0.82 | 0.71 | No OMIM phenotype | 614053 |
ATPAF2 | 114.3 | 1 | 0.99 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 604273 |
ATPIF1 | 197.1 | 1 | 1 | No OMIM phenotype | 604273 |
BCS1L | 184.4 | 1 | 1 | Bjornstad syndrome, | 262000 |
BCS1L | 184.4 | 1 | 1 | GRACILE syndrome, | 603358 |
BCS1L | 184.4 | 1 | 1 | Leigh syndrome, | 256000 |
BCS1L | 184.4 | 1 | 1 | Mitochondrial complex III deficiency, nuclear type 1 | 124000 |
BOLA1 | 113.6 | 1 | 1 | No OMIM phenotype | 124000 |
BOLA2 | 105.9 | 1 | 0.99 | No OMIM phenotype | 124000 |
BOLA3 | 59 | 0.91 | 0.82 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, | 614299 |
C10orf2 | 193.6 | 1 | 1 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), | 271245 |
C10orf2 | 193.6 | 1 | 1 | Perrault syndrome 5 | 616138 |
C10orf2 | 193.6 | 1 | 1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 609286 |
C11orf83 | 110.9 | 1 | 0.98 | ?Mitochondrial complex III deficiency, nuclear type 9 | 616111 |
C12orf65 | 91.3 | 0.97 | 0.92 | Combined oxidative phosphorylation deficiency 7 | 613559 |
C12orf65 | 91.3 | 0.97 | 0.92 | Spastic paraplegia 55 autosomal recessive, | 615035 |
C19orf12 | 100.8 | 1 | 0.99 | Neurodegeneration with brain iron accumulation 4 | 614298 |
C19orf12 | 100.8 | 1 | 0.99 | ?Spastic paraplegia 43 autosomal recessive, | 615043 |
C19orf70 | 64.2 | 0.99 | 0.97 | No OMIM phenotype | 615043 |
CARS2 | 128.6 | 1 | 0.99 | Combined oxidative phosphorylation deficiency 27 | 616672 |
CEP89 | 155.7 | 0.99 | 0.97 | No OMIM phenotype | 616672 |
CEP89 | 155.7 | 0.99 | 0.97 | Complex IV deficiency,isolated (van Bon -2013 Hum Mol Genet 22,3138) | 616672 |
CEP89 | 155.7 | 0.99 | 0.97 | ?Intellectual disability (Vulto-van Silfhout -2013 Hum Mutat 34,1679) | 616672 |
CHCHD10 | 25.8 | 0.58 | 0.38 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 |
CHCHD10 | 25.8 | 0.58 | 0.38 | Spinal muscular atrophy, Jokela type, | 615048 |
CHCHD10 | 25.8 | 0.58 | 0.38 | ?Myopathy, isolated mitochondrial, autosomal dominant, | 616209 |
CHKB | 101.2 | 0.99 | 0.96 | Muscular dystrophy, congenital, megaconial type, | 602541 |
CLPB | 152.7 | 0.96 | 0.95 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, | 616271 |
CLPP | 128.5 | 0.99 | 0.95 | Perrault syndrome 3 | 614129 |
COA1 | 94.6 | 1 | 0.99 | No OMIM phenotype | 614129 |
COA3 | 156.2 | 1 | 1 | No OMIM phenotype | 614129 |
COA3 | 156.2 | 1 | 1 | Neuropathy,exercise intolerance,obesity and short stature (Ostergaard -2015 J Med Genet 52,203 | 614129 |
COA5 | 52.2 | 0.85 | 0.84 | ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 616500 |
COA6 | 76.6 | 0.95 | 0.87 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 |
COASY | 168 | 1 | 1 | Neurodegeneration with brain iron accumulation 6 | 615643 |
COQ2 | 84.5 | 0.95 | 0.92 | Coenzyme Q10 deficiency, primary, 1 | 607426 |
COQ2 | 84.5 | 0.95 | 0.92 | {Multiple system atrophy, susceptibility to}, | 146500 |
COQ4 | 94 | 0.86 | 0.82 | Coenzyme Q10 deficiency, primary, 7 | 616276 |
COQ6 | 154.8 | 0.98 | 0.96 | Coenzyme Q10 deficiency, primary, 6 | 614650 |
COQ7 | 188.1 | 0.99 | 0.98 | ?Coenzyme Q10 deficiency, primary, 8 | 616733 |
COQ9 | 105.7 | 0.99 | 0.98 | Coenzyme Q10 deficiency, primary, 5 | 614654 |
COX10 | 240.2 | 1 | 0.99 | Leigh syndrome due to mitochondrial COX4 deficiency, | 256000 |
COX10 | 240.2 | 1 | 0.99 | Mitochondrial complex IV deficiency, | 220110 |
COX14 | 146.5 | 1 | 0.99 | ?Mitochondrial complex IV deficiency, | 220110 |
COX15 | 105.9 | 1 | 0.99 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 |
COX15 | 105.9 | 1 | 0.99 | Leigh syndrome due to cytochrome c oxidase deficiency, | 256000 |
COX20 | 52.3 | 0.9 | 0.73 | Mitochondrial complex IV deficiency, | 220110 |
COX4I1 | 160.6 | 1 | 1 | No OMIM phenotype | 220110 |
COX4I1 | 160.6 | 1 | 1 | ?Schizophrenia (Fromer -2014 Nature 506,179) | 220110 |
COX4I2 | 107 | 1 | 1 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, | 612714 |
COX5A | 47.2 | 0.87 | 0.65 | No OMIM phenotype | 612714 |
COX5B | 143.8 | 1 | 0.99 | No OMIM phenotype | 612714 |
COX6A1 | 205.9 | 1 | 0.99 | Charcot-Marie-Tooth disease, recessive intermediate D, | 616039 |
COX6A2 | 51.6 | 0.99 | 0.96 | No OMIM phenotype | 616039 |
COX6B1 | 174.5 | 1 | 1 | Mitochondrial complex IV deficiency, | 220110 |
COX6B2 | 61 | 1 | 0.98 | No OMIM phenotype | 220110 |
COX6C | 144.3 | 0.99 | 0.94 | No OMIM phenotype | 220110 |
COX7A1 | 109.6 | 0.99 | 0.99 | No OMIM phenotype | 220110 |
COX7A2 | 95 | 0.98 | 0.93 | No OMIM phenotype | 220110 |
COX7A2 | 95 | 0.98 | 0.93 | {insulin secretion,association with} (Olsson -2011 Eur J Endocrinol 164,765) | 220110 |
COX7B | 60.7 | 0.76 | 0.49 | Linear skin defects with multiple congenital anomalies, | 300887 |
COX7B2 | 305.4 | 1 | 1 | No OMIM phenotype | 300887 |
COX7C | 65.4 | 0.99 | 0.95 | No OMIM phenotype | 300887 |
COX8A | 120.4 | 1 | 1 | ?Mitochondrial complex IV deficiency, | 220110 |
COX8C | 180.6 | 0.99 | 0.96 | No OMIM phenotype | 220110 |
CYC1 | 198.4 | 0.95 | 0.89 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 |
CYCS | 77.9 | 0.99 | 0.95 | Thrombocytopenia 4 | 612004 |
DARS2 | 137.8 | 0.99 | 0.99 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, | 611105 |
DDHD1 | 166.1 | 0.96 | 0.94 | Spastic paraplegia 28 autosomal recessive, | 609340 |
DES | 138.3 | 0.99 | 0.98 | Cardiomyopathy, dilated, 1I, | 604765 |
DES | 138.3 | 0.99 | 0.98 | Myopathy, myofibrillar, 1 | 601419 |
DES | 138.3 | 0.99 | 0.98 | Scapuloperoneal syndrome, neurogenic, Kaeser type, | 181400 |
DES | 138.3 | 0.99 | 0.98 | ?Muscular dystrophy, limb-girdle, type 2R, | 615325 |
DGUOK | 134.6 | 0.99 | 0.98 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), | 251880 |
DHTKD1 | 162.9 | 0.99 | 0.97 | 2-aminoadipic 2-oxoadipic aciduria, | 204750 |
DHTKD1 | 162.9 | 0.99 | 0.97 | ?Charcot-Marie-Tooth disease, axonal, type 2Q, | 615025 |
DLAT | 102.4 | 0.99 | 0.95 | Pyruvate dehydrogenase E2 deficiency, | 245348 |
DLD | 142 | 0.99 | 0.97 | Dihydrolipoamide dehydrogenase deficiency, | 246900 |
DLST | 105.1 | 0.93 | 0.89 | No OMIM phenotype | 246900 |
DLST | 105.1 | 0.93 | 0.89 | ?Diaphragmatic hernia,congenital (Yu -2015 Hum Mol Genet 24,4764) | 246900 |
DNA2 | 149.3 | 0.99 | 0.97 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 |
DNA2 | 149.3 | 0.99 | 0.97 | ?Seckel syndrome 8 | 615807 |
DNAJC19 | 105.3 | 0.97 | 0.9 | 3-methylglutaconic aciduria, type V, | 610198 |
DNAJC3 | 131 | 0.99 | 0.98 | ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, | 616192 |
DNM1L | 131.5 | 0.99 | 0.96 | Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, | 614388 |
EARS2 | 110.1 | 0.99 | 0.97 | Combined oxidative phosphorylation deficiency 12 | 614924 |
ECHS1 | 128 | 1 | 0.99 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, | 616277 |
ECSIT | 152.8 | 0.99 | 0.97 | No OMIM phenotype | 616277 |
ECSIT | 152.8 | 0.99 | 0.97 | ?Complex I deficiency (Calvo -2010 Nat Genet 42,851) | 616277 |
ELAC2 | 133 | 1 | 0.99 | Combined oxidative phosphorylation deficiency 17 | 615440 |
ELAC2 | 133 | 1 | 0.99 | {Prostate cancer, hereditary, 2 susceptibility to}, | 614731 |
ETHE1 | 86.4 | 0.99 | 0.94 | Ethylmalonic encephalopathy, | 602473 |
FARS2 | 224.8 | 1 | 0.99 | Combined oxidative phosphorylation deficiency 14 | 614946 |
FARS2 | 224.8 | 1 | 0.99 | ?Spastic paraplegia 77 autosomal recessive, | 617046 |
FASTKD2 | 135.5 | 0.99 | 0.97 | ?Mitochondrial complex IV deficiency, | 220110 |
FBXL4 | 227.1 | 1 | 1 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), | 615471 |
FDX1L | 116.9 | 0.98 | 0.96 | No OMIM phenotype | 615471 |
FDX1L | 116.9 | 0.98 | 0.96 | Mitochondrial muscle myopathy (Spiegel -2014 Eur J Hum Genet 22,902) | 615471 |
FH | 175.4 | 0.92 | 0.88 | Fumarase deficiency, | 606812 |
FH | 175.4 | 0.92 | 0.88 | Leiomyomatosis and renal cell cancer, | 150800 |
FOXRED1 | 145.1 | 1 | 0.99 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
FOXRED1 | 145.1 | 1 | 0.99 | Mitochondrial complex I deficiency, | 252010 |
FXN | 86.1 | 0.86 | 0.76 | Friedreich ataxia with retained reflexes, | 229300 |
FXN | 86.1 | 0.86 | 0.76 | Friedreich ataxia, | 229300 |
GARS | 147.8 | 0.99 | 0.97 | Charcot-Marie-Tooth disease, type 2D, | 601472 |
GARS | 147.8 | 0.99 | 0.97 | Neuropathy, distal hereditary motor, type VA, | 600794 |
GATM | 174.8 | 1 | 0.99 | Cerebral creatine deficiency syndrome 3 | 612718 |
GFER | 91.8 | 0.97 | 0.9 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, | 612718 |
GFER | 91.8 | 0.97 | 0.9 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, | 613076 |
GFM1 | 108.1 | 0.98 | 0.94 | Combined oxidative phosphorylation deficiency 1 | 609060 |
GFM2 | 138.1 | 0.98 | 0.94 | No OMIM phenotype | 609060 |
GFM2 | 138.1 | 0.98 | 0.94 | Leigh syndrome with arthrogryposis multiplex congenita (Fukumura -2015 J Hum Genet 60,509) | 609060 |
GFM2 | 138.1 | 0.98 | 0.94 | Wolcott-Rallison syndrome (Dixon-Salazar -2012 Sci Transl Med 4,138ra78) | 609060 |
GFM2 | 138.1 | 0.98 | 0.94 | {Atorvastatin sensitivity} (Callegari -2012 PLoS Genet 8,e | 1002755) |
GLRX5 | 102.2 | 0.93 | 0.86 | Anemia, sideroblastic, 3 pyridoxine-refractory, | 616860 |
GLRX5 | 102.2 | 0.93 | 0.86 | Spasticity, childhood-onset, with hyperglycinemia, | 616859 |
GLUD1 | 82.4 | 0.94 | 0.86 | Hyperinsulinism-hyperammonemia syndrome, | 606762 |
GTPBP3 | 135.8 | 0.99 | 0.98 | Combined oxidative phosphorylation deficiency 23 | 616198 |
HARS2 | 196.9 | 0.99 | 0.99 | ?Perrault syndrome 2 | 614926 |
HCCS | 123.6 | 1 | 0.98 | Linear skin defects with multiple congenital anomalies 1 | 309801 |
HIBCH | 76.2 | 0.91 | 0.72 | 3-hydroxyisobutryl-CoA hydrolase deficiency, | 250620 |
HLCS | 193.1 | 1 | 1 | Holocarboxylase synthetase deficiency, | 253270 |
HSD17B10 | 120.3 | 1 | 0.98 | 17-beta-hydroxysteroid dehydrogenase X deficiency, | 300438 |
HSD17B10 | 120.3 | 1 | 0.98 | ?Mental retardation, X-linked syndromic 10 | 300220 |
HSPD1 | 92.7 | 0.96 | 0.89 | Leukodystrophy, hypomyelinating, 4 | 612233 |
HSPD1 | 92.7 | 0.96 | 0.89 | Spastic paraplegia 13 autosomal dominant, | 605280 |
IARS2 | 147.5 | 1 | 0.99 | ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal | 605280 |
IARS2 | 147.5 | 1 | 0.99 | dysplasia, | 616007 |
IBA57 | 114.8 | 0.93 | 0.9 | ?Multiple mitochondrial dysfunctions syndrome 3 | 615330 |
IBA57 | 114.8 | 0.93 | 0.9 | ?Spastic paraplegia 74 autosomal recessive, | 616451 |
ISCA2 | 89.5 | 0.98 | 0.94 | Multiple mitochondrial dysfunctions syndrome 4 | 616370 |
ISCU | 141 | 0.99 | 0.99 | Myopathy with lactic acidosis, hereditary, | 255125 |
KARS | 141.2 | 1 | 0.99 | Deafness, autosomal recessive 89 | 613916 |
KARS | 141.2 | 1 | 0.99 | ?Charcot-Marie-Tooth disease, recessive intermediate, B, | 613641 |
LACTB | 140.7 | 0.96 | 0.85 | No OMIM phenotype | 613641 |
LARS2 | 147.8 | 1 | 1 | Perrault syndrome 4 | 615300 |
LARS2 | 147.8 | 1 | 1 | ?Hydrops, lactic acidosis, and sideroblastic anemia, | 617021 |
LIAS | 159.6 | 0.99 | 0.95 | Hyperglycinemia, lactic acidosis, and seizures, | 614462 |
LIPT1 | 234.6 | 0.99 | 0.99 | Lipoyltransferase 1 deficiency, | 616299 |
LONP1 | 168.1 | 0.97 | 0.95 | CODAS syndrome, | 600373 |
LRPPRC | 140.1 | 0.98 | 0.96 | Leigh syndrome, French-Canadian type, | 220111 |
LYRM4 | 62 | 0.64 | 0.59 | ?Combined oxidative phosphorylation deficiency 19 | 615595 |
LYRM7 | 53.9 | 0.83 | 0.65 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 |
MARS2 | 168.8 | 1 | 1 | Spastic ataxia 3 autosomal recessive, | 611390 |
MARS2 | 168.8 | 1 | 1 | ?Combined oxidative phosphorylation deficiency 25 | 616430 |
MCUR1 | 63.1 | 0.77 | 0.67 | No OMIM phenotype | 616430 |
MFF | 107.2 | 0.92 | 0.88 | No OMIM phenotype | 616430 |
MFF | 107.2 | 0.92 | 0.88 | Mitochondrial ecephalomyopathy (Shamseldin -2012 J Med Genet 49,234) | 616430 |
MFF | 107.2 | 0.92 | 0.88 | Leigh-like encephalopathy, optic atrophy and peripheral neuropathy (Koch -2016 J Med Genet 53 270) | 616430 |
MFN2 | 159.7 | 1 | 1 | Charcot-Marie-Tooth disease, type 2A2, | 609260 |
MFN2 | 159.7 | 1 | 1 | Hereditary motor and sensory neuropathy VIA, | 601152 |
MGME1 | 196.8 | 1 | 1 | Mitochondrial DNA depletion syndrome 11 | 615084 |
MICU1 | 140 | 0.95 | 0.91 | Myopathy with extrapyramidal signs, | 615673 |
MIEF2 | 120.6 | 1 | 0.99 | No OMIM phenotype | 615673 |
MPC1 | 131.6 | 1 | 0.99 | Mitochondrial pyruvate carrier deficiency, | 614741 |
MPV17 | 119.7 | 1 | 0.99 | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), | 256810 |
MRP63 | 142.1 | 0.99 | 0.97 | No OMIM phenotype | 256810 |
MRPL12 | 125.9 | 0.99 | 0.95 | No OMIM phenotype | 256810 |
MRPL12 | 125.9 | 0.99 | 0.95 | Growth retardation and neurological deterioration (Serre -2013 Biochim Biophys Acta 1832) | 256810 |
MRPL3 | 69.9 | 0.89 | 0.78 | Combined oxidative phosphorylation deficiency 9 | 614582 |
MRPL40 | 118 | 0.99 | 0.95 | No OMIM phenotype | 614582 |
MRPL44 | 119.9 | 0.99 | 0.96 | ?Combined oxidative phosphorylation deficiency 16 | 615395 |
MRPS16 | 154.4 | 1 | 0.99 | Combined oxidative phosphorylation deficiency 2 | 610498 |
MRPS2 | 179.6 | 1 | 0.99 | No OMIM phenotype | 610498 |
MRPS22 | 150.8 | 0.95 | 0.91 | Combined oxidative phosphorylation deficiency 5 | 611719 |
MRPS7 | 185.8 | 1 | 1 | No OMIM phenotype | 611719 |
MRPS7 | 185.8 | 1 | 1 | Sensorineural deafness,progressive hepatic and renal failure and lactic acidaemia (Menezes -2015 Hum | 611719 |
MRPS7 | 185.8 | 1 | 1 | Mol Genet 24,2297) | 611719 |
MRRF | 216.4 | 1 | 0.98 | No OMIM phenotype | 611719 |
MRRF | 216.4 | 1 | 0.98 | ?Complex I deficiency (Calvo -2010 Nat Genet 42,851) | 611719 |
MTFMT | 148.4 | 0.98 | 0.94 | Combined oxidative phosphorylation deficiency 15 | 614947 |
MTO1 | 179.8 | 0.89 | 0.87 | Combined oxidative phosphorylation deficiency 10 | 614702 |
MTPAP | 133 | 0.98 | 0.93 | Ataxia, spastic, 4 | 613672 |
NARS2 | 155.7 | 0.97 | 0.97 | Combined oxidative phosphorylation deficiency 24 | 616239 |
NDUFA1 | 236.8 | 1 | 0.99 | Mitochondrial complex I deficiency, | 252010 |
NDUFA10 | 155.6 | 0.99 | 0.96 | ?Leigh syndrome, | 256000 |
NDUFA11 | 95.1 | 0.99 | 0.94 | Mitochondrial complex I deficiency, | 252010 |
NDUFA12 | 166 | 1 | 1 | Leigh syndrome due to mitochondrial complex 1 deficiency, | 256000 |
NDUFA13 | 131.6 | 0.95 | 0.94 | {Thyroid carcinoma, Hurthle cell}, | 607464 |
NDUFA2 | 144.1 | 1 | 1 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
NDUFA3 | 130.5 | 0.91 | 0.84 | No OMIM phenotype | 256000 |
NDUFA4 | 83.6 | 0.97 | 0.86 | No OMIM phenotype | 256000 |
NDUFA4 | 83.6 | 0.97 | 0.86 | Cytochrome c oxidase deficiency (Pitceathly -2013 Cell Rep 3,1795) | 256000 |
NDUFA4 | 83.6 | 0.97 | 0.86 | ?Complex I deficiency (Calvo -2010 Nat Genet 42,851) | 256000 |
NDUFA5 | 83.2 | 0.87 | 0.66 | No OMIM phenotype | 256000 |
NDUFA6 | 276.9 | 1 | 1 | No OMIM phenotype | 256000 |
NDUFA6 | 276.9 | 1 | 1 | ?Complex I deficiency (Calvo -2010 Nat Genet 42,851) | 256000 |
NDUFA7 | 117.6 | 1 | 0.98 | No OMIM phenotype | 256000 |
NDUFA8 | 151.6 | 1 | 0.99 | No OMIM phenotype | 256000 |
NDUFA8 | 151.6 | 1 | 0.99 | Complex I deficiency (Bugiani -2004 Biochim Biophys Acta 1659,136) | 256000 |
NDUFA9 | 156.5 | 0.99 | 0.95 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
NDUFAB1 | 129.9 | 0.98 | 0.94 | No OMIM phenotype | 256000 |
NDUFAF1 | 120.7 | 1 | 0.99 | Mitochondrial complex I deficiency, | 252010 |
NDUFAF2 | 59.8 | 0.81 | 0.67 | Leigh syndrome, | 256000 |
NDUFAF2 | 59.8 | 0.81 | 0.67 | Mitochondrial complex I deficiency, | 252010 |
NDUFAF3 | 122.5 | 1 | 0.99 | Mitochondrial complex I deficiency, | 252010 |
NDUFAF4 | 103.9 | 0.98 | 0.91 | Mitochondrial complex I deficiency, | 252010 |
NDUFAF5 | 104.7 | 0.97 | 0.94 | Mitochondrial complex 1 deficiency, | 252010 |
NDUFAF6 | 89.6 | 0.97 | 0.93 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
NDUFAF7 | 110.4 | 0.99 | 0.98 | No OMIM phenotype | 256000 |
NDUFAF7 | 110.4 | 0.99 | 0.98 | ?Complex I deficiency (Calvo -2010 Nat Genet 42,851) | 256000 |
NDUFB1 | 33.1 | 0.73 | 0.53 | No OMIM phenotype | 256000 |
NDUFB1 | 33.1 | 0.73 | 0.53 | ?Complex I deficiency (Calvo -2012 Nat Genet 42,851) | 256000 |
NDUFB10 | 146.4 | 0.99 | 0.97 | No OMIM phenotype | 256000 |
NDUFB11 | 101.4 | 0.94 | 0.84 | Linear skin defects with multiple congenital anomalies 3 | 300952 |
NDUFB2 | 109.8 | 1 | 0.99 | No OMIM phenotype | 300952 |
NDUFB3 | 23.3 | 0.91 | 0.56 | Mitochondrial complex I deficiency, | 252010 |
NDUFB4 | 107.3 | 0.83 | 0.79 | No OMIM phenotype | 252010 |
NDUFB5 | 101.5 | 1 | 1 | No OMIM phenotype | 252010 |
NDUFB6 | 41.6 | 0.97 | 0.87 | No OMIM phenotype | 252010 |
NDUFB7 | 59.1 | 0.99 | 0.97 | No OMIM phenotype | 252010 |
NDUFB8 | 119 | 1 | 1 | No OMIM phenotype | 252010 |
NDUFB9 | 128.2 | 0.99 | 0.97 | ?Mitochondrial complex I deficiency, | 252010 |
NDUFC1 | 95 | 0.99 | 0.97 | No OMIM phenotype | 252010 |
NDUFC2 | 42.3 | 0.96 | 0.82 | No OMIM phenotype | 252010 |
NDUFC2 | 42.3 | 0.96 | 0.82 | {Insulin secrection,association with} (Olsson -2011 Eur J Endocrinol 164,765) | 252010 |
NDUFS1 | 154.7 | 0.99 | 0.98 | Mitochondrial complex I deficiency, | 252010 |
NDUFS2 | 120.4 | 1 | 0.99 | Mitochondrial complex I deficiency, | 252010 |
NDUFS3 | 151.1 | 0.9 | 0.9 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
NDUFS3 | 151.1 | 0.9 | 0.9 | Mitochondrial complex I deficiency, | 252010 |
NDUFS4 | 175.1 | 1 | 0.98 | Leigh syndrome, | 256000 |
NDUFS4 | 175.1 | 1 | 0.98 | Mitochondrial complex I deficiency, | 252010 |
NDUFS5 | 184.5 | 1 | 1 | No OMIM phenotype | 252010 |
NDUFS5 | 184.5 | 1 | 1 | ?Complex I deficiency (Calvo -2010 Nat Genet 42,851) | 252010 |
NDUFS6 | 138.1 | 0.99 | 0.99 | Mitochondrial complex I deficiency, | 252010 |
NDUFS7 | 132.1 | 0.99 | 0.99 | Leigh syndrome, | 256000 |
NDUFS8 | 145.6 | 0.99 | 0.99 | Leigh syndrome due to mitochondrial complex I deficiency, | 256000 |
NDUFV1 | 168.6 | 0.99 | 0.97 | Mitochondrial complex I deficiency, | 252010 |
NDUFV2 | 74.1 | 0.84 | 0.62 | Mitochondrial complex I deficiency, | 252010 |
NDUFV3 | 114 | 1 | 0.99 | No OMIM phenotype | 252010 |
NDUFV3 | 114 | 1 | 0.99 | ?Autistic features,motor problems and macrocephaly (Asadollahi -2014 J Med Genet 51,677) | 252010 |
NDUFV3 | 114 | 1 | 0.99 | ?Complex I deficiency (Calvo -2010 Nat Genet 42,851) | 252010 |
NFS1 | 82.1 | 0.87 | 0.83 | No OMIM phenotype | 252010 |
NFS1 | 82.1 | 0.87 | 0.83 | Mitochondrial complex II/III deficienc,infantile (Farhan -2014 Mol Genet Genomic Med 2,73) | 252010 |
NFU1 | 50.5 | 0.93 | 0.78 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 |
NUBPL | 101.7 | 0.9 | 0.85 | Mitochondrial complex I deficiency, | 252010 |
OGDH | 225.1 | 1 | 1 | Alpha-ketoglutarate dehydrogenase deficiency, | 203740 |
OPA1 | 135.3 | 0.98 | 0.91 | Behr syndrome, | 210000 |
OPA1 | 135.3 | 0.98 | 0.91 | Optic atrophy 1 | 165500 |
OPA1 | 135.3 | 0.98 | 0.91 | Optic atrophy plus syndrome, | 125250 |
OPA1 | 135.3 | 0.98 | 0.91 | ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), | 616896 |
OPA1 | 135.3 | 0.98 | 0.91 | {Glaucoma, normal tension, susceptibility to}, | 606657 |
OPA3 | 122 | 0.99 | 0.96 | 3-methylglutaconic aciduria, type III, | 258501 |
OPA3 | 122 | 0.99 | 0.96 | Optic atrophy 3 with cataract, | 165300 |
OXA1L | 186.8 | 1 | 1 | No OMIM phenotype | 165300 |
PANK2 | 177.5 | 0.99 | 0.96 | HARP syndrome, | 607236 |
PANK2 | 177.5 | 0.99 | 0.96 | Neurodegeneration with brain iron accumulation 1 | 234200 |
PARS2 | 241.4 | 1 | 1 | No OMIM phenotype | 234200 |
PARS2 | 241.4 | 1 | 1 | Alpers syndrome (Sofou -2015 Mol Genet Genomic Med 3,59) | 234200 |
PC | 162.8 | 0.99 | 0.97 | Pyruvate carboxylase deficiency, | 266150 |
PDHA1 | 127.8 | 0.97 | 0.92 | Pyruvate dehydrogenase E1-alpha deficiency, | 312170 |
PDHB | 144 | 0.98 | 0.95 | Pyruvate dehydrogenase E1-beta deficiency, | 614111 |
PDHX | 136.1 | 0.98 | 0.96 | Lacticacidemia due to PDX1 deficiency, | 245349 |
PDK1 | 153.8 | 0.96 | 0.93 | No OMIM phenotype | 245349 |
PDK2 | 183.5 | 1 | 1 | No OMIM phenotype | 245349 |
PDK3 | 145.1 | 0.95 | 0.94 | ?Charcot-Marie-Tooth disease, X-linked dominant, 6 | 300905 |
PDK4 | 124.1 | 0.99 | 0.97 | No OMIM phenotype | 300905 |
PDK4 | 124.1 | 0.99 | 0.97 | ?Autism spectrum disorder (Matsunami -2014 Mol Autism 5,5) | 300905 |
PDP1 | 209.6 | 1 | 1 | Pyruvate dehydrogenase phosphatase deficiency, | 608782 |
PDSS1 | 134.8 | 0.91 | 0.85 | Coenzyme Q10 deficiency, primary, 2 | 614651 |
PDSS2 | 131.3 | 0.97 | 0.93 | Coenzyme Q10 deficiency, primary, 3 | 614652 |
PET100 | 127.6 | 0.95 | 0.82 | Mitochondrial complex IV deficiency, | 220110 |
PET112 | 110.9 | 0.99 | 0.98 | No OMIM phenotype | 220110 |
PIGA | 102.1 | 0.92 | 0.84 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 |
PIGA | 102.1 | 0.92 | 0.84 | Paroxysmal nocturnal hemoglobinuria, somatic, | 300818 |
PITRM1 | 133.2 | 0.97 | 0.95 | Brunetti et al, EMBO Mol Med 2015 | 300818 |
PLA2G6 | 132.4 | 0.99 | 0.98 | Infantile neuroaxonal dystrophy 1 | 256600 |
PLA2G6 | 132.4 | 0.99 | 0.98 | Neurodegeneration with brain iron accumulation 2B, | 610217 |
PLA2G6 | 132.4 | 0.99 | 0.98 | Parkinson disease 14 autosomal recessive, | 612953 |
PMPCA | 146.2 | 0.98 | 0.95 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 |
PNPT1 | 57.7 | 0.92 | 0.79 | Combined oxidative phosphorylation deficiency 13 | 614932 |
PNPT1 | 57.7 | 0.92 | 0.79 | Deafness, autosomal recessive 70 | 614934 |
POLG | 126.2 | 0.99 | 0.99 | Mitochondrial DNA depletion syndrome 4A (Alpers type), | 203700 |
POLG | 126.2 | 0.99 | 0.99 | Mitochondrial DNA depletion syndrome 4B (MNGIE type), | 613662 |
POLG | 126.2 | 0.99 | 0.99 | Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), | 607459 |
POLG | 126.2 | 0.99 | 0.99 | Progressive external ophthalmoplegia, autosomal dominant 1 | 157640 |
POLG | 126.2 | 0.99 | 0.99 | Progressive external ophthalmoplegia, autosomal recessive 1 | 258450 |
POLG2 | 179.6 | 0.98 | 0.95 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 610131 |
PPA2 | 86.9 | 0.94 | 0.86 | No OMIM phenotype | 610131 |
PTRH2 | 315.8 | 1 | 1 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, | 616263 |
PUS1 | 150.8 | 0.99 | 0.96 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 |
PYCR1 | 105.4 | 0.99 | 0.94 | Cutis laxa, autosomal recessive, type IIB, | 612940 |
PYCR1 | 105.4 | 0.99 | 0.94 | Cutis laxa, autosomal recessive, type IIIB, | 614438 |
PYCR2 | 137.6 | 0.99 | 0.98 | Leukodystrophy, hypomyelinating, 10 | 616420 |
RARS2 | 126.3 | 0.99 | 0.98 | Pontocerebellar hypoplasia, type 6 | 611523 |
RMND1 | 142.9 | 0.99 | 0.96 | Combined oxidative phosphorylation deficiency 11 | 614922 |
RNASEH1 | 111.1 | 0.97 | 0.93 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 |
RRM2B | 148.4 | 0.99 | 0.97 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), | 612075 |
RRM2B | 148.4 | 0.99 | 0.97 | Mitochondrial DNA depletion syndrome 8B (MNGIE type), | 612075 |
RRM2B | 148.4 | 0.99 | 0.97 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 613077 |
SARS2 | 116.3 | 0.96 | 0.95 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, | 613845 |
SCO1 | 130.6 | 0.97 | 0.93 | Mitochondrial complex IV deficiency, | 220110 |
SCO2 | 113.3 | 1 | 0.99 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 604377 |
SCO2 | 113.3 | 1 | 0.99 | Myopia 6 | 608908 |
SDHA | 117.4 | 0.84 | 0.78 | Cardiomyopathy, dilated, 1GG, | 613642 |
SDHA | 117.4 | 0.84 | 0.78 | Leigh syndrome, | 256000 |
SDHA | 117.4 | 0.84 | 0.78 | Mitochondrial respiratory chain complex II deficiency, | 252011 |
SDHA | 117.4 | 0.84 | 0.78 | Paragangliomas 5 | 614165 |
SDHAF1 | 48.8 | 0.99 | 0.98 | Mitochondrial complex II deficiency, | 252011 |
SDHB | 144 | 0.99 | 0.99 | Cowden syndrome 2 | 612359 |
SDHB | 144 | 0.99 | 0.99 | Gastrointestinal stromal tumor, | 606764 |
SDHB | 144 | 0.99 | 0.99 | Paraganglioma and gastric stromal sarcoma, | 606864 |
SDHB | 144 | 0.99 | 0.99 | Paragangliomas 4 | 115310 |
SDHB | 144 | 0.99 | 0.99 | Pheochromocytoma, | 171300 |
SDHD | 59.9 | 0.62 | 0.58 | Carcinoid tumors, intestinal, | 114900 |
SDHD | 59.9 | 0.62 | 0.58 | Cowden syndrome 3 | 615106 |
SDHD | 59.9 | 0.62 | 0.58 | Merkel cell carcinoma, somatic | 615106 |
SDHD | 59.9 | 0.62 | 0.58 | Mitochondrial complex II deficiency, | 252011 |
SDHD | 59.9 | 0.62 | 0.58 | Paraganglioma and gastric stromal sarcoma, | 606864 |
SDHD | 59.9 | 0.62 | 0.58 | Paragangliomas 1 with or without deafness, | 168000 |
SDHD | 59.9 | 0.62 | 0.58 | Pheochromocytoma, | 171300 |
SERAC1 | 125.5 | 0.98 | 0.94 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, | 614739 |
SFXN4 | 155.3 | 0.99 | 0.98 | Combined oxidative phosphorylation deficiency 18 | 615578 |
SLC19A2 | 128.5 | 0.99 | 0.98 | Thiamine-responsive megaloblastic anemia syndrome, | 249270 |
SLC19A3 | 191.3 | 1 | 1 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), | 249270 |
SLC19A3 | 191.3 | 1 | 1 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), | 607483 |
SLC25A1 | 84.7 | 0.97 | 0.9 | Combined D-2- and L-2-hydroxyglutaric aciduria, | 615182 |
SLC25A12 | 165 | 0.99 | 0.98 | Epileptic encephalopathy, early infantile, 39 | 612949 |
SLC25A13 | 125.3 | 0.98 | 0.93 | Citrullinemia, adult-onset type II, | 603471 |
SLC25A13 | 125.3 | 0.98 | 0.93 | Citrullinemia, type II, neonatal-onset, | 605814 |
SLC25A19 | 81.4 | 0.99 | 0.95 | Microcephaly, Amish type, | 607196 |
SLC25A19 | 81.4 | 0.99 | 0.95 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), | 613710 |
SLC25A22 | 117.1 | 0.99 | 0.96 | Epileptic encephalopathy, early infantile, 3 | 609304 |
SLC25A3 | 157.9 | 0.99 | 0.95 | Mitochondrial phosphate carrier deficiency, | 610773 |
SLC25A32 | 132.1 | 1 | 0.99 | ?Exercise intolerance, riboflavin-responsive, | 616839 |
SLC25A4 | 152.1 | 1 | 1 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), | 615418 |
SLC25A4 | 152.1 | 1 | 1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 609283 |
SLC25A46 | 191.1 | 0.93 | 0.87 | Neuropathy, hereditary motor and sensory, type VIB, | 616505 |
SPATA5 | 146.6 | 0.99 | 0.99 | Epilepsy, hearing loss, and mental retardation syndrome, | 616577 |
SPG20 | 166.4 | 0.99 | 0.97 | Troyer syndrome, | 275900 |
SPG7 | 127.9 | 0.96 | 0.92 | Spastic paraplegia 7 autosomal recessive, | 607259 |
STXBP1 | 147.9 | 1 | 1 | Epileptic encephalopathy, early infantile, 4 | 612164 |
SUCLA2 | 69.4 | 0.92 | 0.82 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), | 612164 |
SUCLA2 | 69.4 | 0.92 | 0.82 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), | 612073 |
SUCLG1 | 111.3 | 0.99 | 0.97 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), | 612073 |
SUCLG1 | 111.3 | 0.99 | 0.97 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), | 245400 |
SUCLG2 | 65.9 | 0.91 | 0.79 | No OMIM phenotype | 245400 |
SURF1 | 97 | 0.89 | 0.88 | Charcot-Marie-Tooth disease, type 4K, | 616684 |
SURF1 | 97 | 0.89 | 0.88 | Leigh syndrome, due to COX IV deficiency, | 256000 |
TACO1 | 104.3 | 0.96 | 0.92 | Mitochondrial complex IV deficiency, | 220110 |
TANGO2 | 161 | 1 | 0.99 | Metabolic encephalomyopathic crises,recurrent,with rhabdomyolysis,cardiac arrhythmias and | 220110 |
TANGO2 | 161 | 1 | 0.99 | neurodegeneration, | 616878 |
TARS2 | 103.6 | 0.99 | 0.96 | ?Combined oxidative phosphorylation deficiency 21 | 615918 |
TAZ | 126.3 | 1 | 0.98 | Barth syndrome, | 302060 |
THG1L | 158.2 | 1 | 0.99 | No OMIM phenotype | 302060 |
TIMM44 | 136.3 | 0.99 | 0.97 | No OMIM phenotype | 302060 |
TIMM44 | 136.3 | 0.99 | 0.97 | Oncocytic thyroid carcinoma (Bonora -2006 Br J Cancer 95,1529) | 302060 |
TIMM50 | 115.1 | 0.99 | 0.97 | No OMIM phenotype | 302060 |
TIMM50 | 115.1 | 0.99 | 0.97 | ?Epileptic encephalopathy with Lennox-Gastaut syndrome (Helbig -2016 Genet Med Epub,epub) | 302060 |
TIMM8A | 45.5 | 0.87 | 0.7 | Jensen syndrome, | 311150 |
TIMM8A | 45.5 | 0.87 | 0.7 | Mohr-Tranebjaerg syndrome, | 304700 |
TIMMDC1 | 167.1 | 1 | 1 | No OMIM phenotype | 304700 |
TK2 | 109.9 | 0.92 | 0.87 | Mitochondrial DNA depletion syndrome 2 (myopathic type), | 609560 |
TMEM126A | 118.9 | 0.95 | 0.83 | Optic atrophy 7 | 612989 |
TMEM126B | 100.8 | 0.99 | 0.97 | Mitochondrial complex I deficiency, | 252010 |
TMEM70 | 152.6 | 0.95 | 0.91 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | 614052 |
TPK1 | 127.3 | 0.99 | 0.97 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), | 614458 |
TRIT1 | 149.2 | 1 | 0.99 | No OMIM phenotype | 614458 |
TRMT10C | 123.5 | 0.99 | 0.96 | Combined oxidative phosphorylation deficiency 30 | 616974 |
TRMT5 | 232.1 | 0.98 | 0.93 | Combined oxidative phosphorylation deficiency 26 | 616539 |
TRMU | 121.1 | 1 | 0.99 | Liver failure, transient infantile, | 613070 |
TRMU | 121.1 | 1 | 0.99 | {Deafness, mitochondrial, modifier of}, | 580000 |
TRNT1 | 111.2 | 0.95 | 0.9 | Retinitis pigmentosa and erythrocytic microcytosis, | 616959 |
TRNT1 | 111.2 | 0.95 | 0.9 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, | 616084 |
TSFM | 148.4 | 1 | 0.99 | Combined oxidative phosphorylation deficiency 3 | 610505 |
TTC19 | 106.2 | 0.9 | 0.81 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 |
TUFM | 146.1 | 1 | 0.99 | Combined oxidative phosphorylation deficiency 4 | 610678 |
TXN2 | 100.5 | 1 | 1 | ?Combined oxidative phosphorylation deficiency 29 | 616811 |
TYMP | 96.7 | 0.96 | 0.88 | Mitochondrial DNA depletion syndrome 1 (MNGIE type), | 603041 |
UQCC1 | 114.2 | 1 | 0.99 | No OMIM phenotype | 603041 |
UQCC2 | 103.8 | 1 | 0.99 | ?Mitochondrial complex III deficiency, nuclear type 7 | 615824 |
UQCR10 | 186.8 | 1 | 1 | No OMIM phenotype | 615824 |
UQCR11 | 199.9 | 1 | 1 | No OMIM phenotype | 615824 |
UQCRB | 121.7 | 0.98 | 0.95 | Mitochondrial complex III deficiency, nuclear type 3 | 615158 |
UQCRC1 | 143.6 | 0.99 | 0.99 | No OMIM phenotype | 615158 |
UQCRC2 | 154.8 | 0.99 | 0.99 | Mitochondrial complex III deficiency, nuclear type 5 | 615160 |
UQCRFS1 | 148.5 | 0.88 | 0.83 | No OMIM phenotype | 615160 |
UQCRH | 130 | 0.99 | 0.98 | No OMIM phenotype | 615160 |
UQCRQ | 162.5 | 1 | 0.99 | Mitochondrial complex III deficiency, nuclear type 4 | 615159 |
VARS2 | 17.7 | 0.62 | 0.35 | Combined oxidative phosphorylation deficiency 20 | 615917 |
YARS2 | 186.8 | 0.99 | 0.98 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 |