Phenotype: Abnormal activity of mitochondrial respiratory chain (HP:0011922)
Associated genes and diseases:
gene_symbol: IBA57
disease_id: ORPHA:468661
disease_name: Autosomal recessive spastic paraplegia type 74
SPG74
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
gene_symbol: FDX2
disease_id: OMIM:251900
disease_name: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: SDHB
disease_id: OMIM:619224
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: MECR
disease_id: ORPHA:508093
disease_name: MEPAN syndrome
Autosomal recessive childhood-onset dystonia, DYT29 type
Childhood-onset generalized dystonia-optic atrophy syndrome
DYT29
Dystonia 29
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: NFS1
disease_id: OMIM:619386
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52
gene_symbol: SDHD
disease_id: OMIM:619167
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: MIEF2
disease_id: OMIM:619024
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49
gene_symbol: TRMT10C
disease_id: OMIM:616974
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
gene_symbol: SDHA
disease_id: OMIM:613642
disease_name: CARDIOMYOPATHY, DILATED, 1GG
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: CHCHD10
disease_id: OMIM:616209
disease_name: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
gene_symbol: UQCC2
disease_id: OMIM:615824
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: SLC39A8
disease_id: ORPHA:468699
disease_name: SLC39A8-CDG
CDG syndrome type IIn
CDG-IIn
CDG2N
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
Congenital disorder of glycosylation type IIn
SLC39A8 deficiency
gene_symbol: ISCU
disease_id: OMIM:255125
disease_name: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: LRPPRC
disease_id: ORPHA:70472
disease_name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
COX deficiency, French-Canadian type
Cytochrome C oxidase deficiency, French-Canadian type
Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
Leigh syndrome, French-Canadian type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
SLSJ-COX deficiency
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: COX16
disease_id: OMIM:619355
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22
gene_symbol: ATP5F1A
disease_id: OMIM:616045
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
gene_symbol: FLAD1
disease_id: OMIM:255100
disease_name: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
gene_symbol: GFM1
disease_id: OMIM:609060
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
gene_symbol: MTFMT
disease_id: OMIM:614947
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
gene_symbol: TSFM
disease_id: OMIM:610505
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
gene_symbol: VARS2
disease_id: OMIM:615917
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
gene_symbol: MRPS22
disease_id: OMIM:611719
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
gene_symbol: MGME1
disease_id: OMIM:615084
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
gene_symbol: MRPL12
disease_id: OMIM:618951
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45
gene_symbol: CARS2
disease_id: ORPHA:477774
disease_name: Combined oxidative phosphorylation defect type 27
COXPD27
gene_symbol: CARS2
disease_id: OMIM:616672
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
gene_symbol: SLC25A4
disease_id: OMIM:617184
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
gene_symbol: SLC25A4
disease_id: OMIM:615418
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
gene_symbol: GFM2
disease_id: OMIM:618397
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
gene_symbol: QRSL1
disease_id: OMIM:618835
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40
gene_symbol: POLG
disease_id: OMIM:613662
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
gene_symbol: OPA1
disease_id: OMIM:616896
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
gene_symbol: TRMT5
disease_id: OMIM:616539
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
gene_symbol: MRPS23
disease_id: OMIM:618952
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46
gene_symbol: RARS2
disease_id: OMIM:611523
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 6
gene_symbol: GATC
disease_id: OMIM:618839
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42
gene_symbol: COA3
disease_id: OMIM:619058
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14
gene_symbol: TRIT1
disease_id: OMIM:617873
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
gene_symbol: COX20
disease_id: OMIM:619054
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: PET100
disease_id: OMIM:619055
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: NSUN3
disease_id: OMIM:619012
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48
gene_symbol: COA6
disease_id: OMIM:616501
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: TK2
disease_id: OMIM:609560
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
gene_symbol: COA5
disease_id: OMIM:616500
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: MRM2
disease_id: OMIM:618567
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 17
gene_symbol: MRPL39
disease_id: OMIM:620646
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59
gene_symbol: C1QBP
disease_id: OMIM:617713
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
gene_symbol: MTRFR
disease_id: OMIM:613559
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
gene_symbol: EARS2
disease_id: OMIM:614924
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: AGK
disease_id: OMIM:212350
disease_name: SENGERS SYNDROME
gene_symbol: DGUOK
disease_id: OMIM:251880
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
gene_symbol: COA8
disease_id: OMIM:619061
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17
gene_symbol: COX6A2
disease_id: OMIM:619062
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18
gene_symbol: SUCLG1
disease_id: OMIM:245400
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
gene_symbol: SUCLG1
disease_id: ORPHA:17
disease_name: Fatal infantile lactic acidosis with methylmalonic aciduria
gene_symbol: PET117
disease_id: OMIM:619063
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19
gene_symbol: PUS1
disease_id: OMIM:600462
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
gene_symbol: COX5A
disease_id: OMIM:619064
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: COX4I1
disease_id: OMIM:619060
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16
gene_symbol: MRPS25
disease_id: OMIM:619025
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50
gene_symbol: AARS2
disease_id: OMIM:614096
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
gene_symbol: TIMM22
disease_id: OMIM:618851
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43
gene_symbol: MRPS14
disease_id: OMIM:618378
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38
gene_symbol: COXFA4
disease_id: OMIM:619065
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21
gene_symbol: SLC25A26
disease_id: OMIM:616794
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
gene_symbol: YARS2
disease_id: OMIM:613561
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
gene_symbol: RRM2B
disease_id: OMIM:612075
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
gene_symbol: GTPBP3
disease_id: OMIM:616198
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
gene_symbol: GTPBP3
disease_id: ORPHA:444013
disease_name: Combined oxidative phosphorylation defect type 23
COXPD23
gene_symbol: AIFM1
disease_id: OMIM:300816
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
gene_symbol: TAMM41
disease_id: OMIM:620139
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56
gene_symbol: MRPS16
disease_id: OMIM:610498
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2
gene_symbol: NARS2
disease_id: OMIM:616239
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: KARS1
disease_id: OMIM:619147
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: SUCLA2
disease_id: OMIM:612073
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
gene_symbol: GFER
disease_id: OMIM:613076
disease_name: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY
gene_symbol: AFG3L2
disease_id: OMIM:610246
disease_name: SPINOCEREBELLAR ATAXIA 28
gene_symbol: HACD1
disease_id: OMIM:619967
disease_name: CONGENITAL MYOPATHY 11
gene_symbol: NAXE
disease_id: OMIM:617186
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1
gene_symbol: CDK5
disease_id: OMIM:616342
disease_name: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
gene_symbol: NDUFA8
disease_id: OMIM:619272
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37
gene_symbol: NDUFB11
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB11
disease_id: OMIM:301021
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
gene_symbol: NDUFAF3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF3
disease_id: OMIM:618240
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
gene_symbol: NDUFAF1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF1
disease_id: OMIM:618234
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: NDUFAF2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF2
disease_id: OMIM:618233
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: TIMMDC1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: TIMMDC1
disease_id: OMIM:618251
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
gene_symbol: NDUFB10
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB10
disease_id: OMIM:619003
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35
gene_symbol: NDUFV1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV1
disease_id: OMIM:618225
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: FOXRED1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: FOXRED1
disease_id: OMIM:618241
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
gene_symbol: NDUFAF8
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF8
disease_id: OMIM:618776
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34
gene_symbol: TMEM126B
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: TMEM126B
disease_id: OMIM:618250
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
gene_symbol: MT-ND1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV2
disease_id: OMIM:618229
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: NDUFA1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA1
disease_id: OMIM:301020
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: NDUFS2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS2
disease_id: OMIM:618228
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: NDUFS4
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: NDUFS6
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS6
disease_id: OMIM:618232
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
gene_symbol: NDUFS8
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS8
disease_id: OMIM:618222
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: NDUFS3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS3
disease_id: OMIM:618230
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: NDUFAF5
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF5
disease_id: OMIM:618238
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
gene_symbol: NDUFA11
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA11
disease_id: OMIM:618236
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14
gene_symbol: NDUFB3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB3
disease_id: OMIM:618246
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
gene_symbol: NUBPL
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NUBPL
disease_id: OMIM:618242
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
gene_symbol: NDUFAF4
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF4
disease_id: OMIM:618237
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
gene_symbol: NDUFS7
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA6
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA6
disease_id: OMIM:618253
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
gene_symbol: MT-ND2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS1
disease_id: OMIM:618226
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: NDUFB9
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB9
disease_id: OMIM:618245
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24
gene_symbol: NDUFA2
disease_id: OMIM:618235
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: NDUFAF6
disease_id: OMIM:618239
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
gene_symbol: NDUFC2
disease_id: OMIM:619170
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36
gene_symbol: NDUFA12
disease_id: OMIM:618244
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23
gene_symbol: NDUFA9
disease_id: OMIM:618247
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
gene_symbol: PTCD3
disease_id: OMIM:619057
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51
gene_symbol: NDUFA10
disease_id: OMIM:618243
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
gene_symbol: NDUFA13
disease_id: OMIM:618249
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
gene_symbol: MT-TE
disease_id: ORPHA:254864
disease_name: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Benign COX deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile cytochrome C oxidase deficiency
Reversible infantile respiratory chain deficiency
gene_symbol: TRMU
disease_id: ORPHA:254864
disease_name: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Benign COX deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile cytochrome C oxidase deficiency
Reversible infantile respiratory chain deficiency
gene_symbol: NDUFB8
disease_id: OMIM:618252
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
gene_symbol: ACAD9
disease_id: ORPHA:99901
disease_name: Acyl-CoA dehydrogenase 9 deficiency
ACAD9 deficiency
gene_symbol: ACAD9
disease_id: OMIM:611126
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: MT-TL1
disease_id: ORPHA:324525
disease_name: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation
Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation
gene_symbol: ISCA2
disease_id: OMIM:616370
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
gene_symbol: TXN2
disease_id: ORPHA:478029
disease_name: Combined oxidative phosphorylation defect type 29
COXPD29
gene_symbol: TXN2
disease_id: OMIM:616811
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
gene_symbol: ELAC2
disease_id: OMIM:615440
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
gene_symbol: SCN4A
disease_id: OMIM:620351
disease_name: CONGENITAL MYOPATHY 22A, CLASSIC
gene_symbol: SFXN4
disease_id: OMIM:615578
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
gene_symbol: SLC25A10
disease_id: OMIM:618972
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 19
gene_symbol: NDUFB7
disease_id: OMIM:620135
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39
gene_symbol: UQCRQ
disease_id: OMIM:615159
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: TTC19
disease_id: OMIM:615157
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: UQCRB
disease_id: OMIM:615158
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: MTO1
disease_id: OMIM:614702
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
gene_symbol: LYRM7
disease_id: OMIM:615838
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: CYC1
disease_id: OMIM:615453
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: UQCC3
disease_id: OMIM:616111
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9
gene_symbol: UQCRH
disease_id: OMIM:620137
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: TMEM70
disease_id: OMIM:614052
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: ATP5F1D
disease_id: OMIM:618120
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: ATP5F1E
disease_id: OMIM:614053
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: TIMM50
disease_id: ORPHA:505216
disease_name: 3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
MGA9
gene_symbol: ATPAF2
disease_id: OMIM:604273
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1