Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated genes and diseases:
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
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: ATP5F1A
disease_id: OMIM:616045
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
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: CHCHD10
disease_id: OMIM:616209
disease_name: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
gene_symbol: GFM1
disease_id: OMIM:609060
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
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: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: TSFM
disease_id: OMIM:610505
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
gene_symbol: MRPS22
disease_id: OMIM:611719
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
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: 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: 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: TRMT10C
disease_id: OMIM:616974
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
gene_symbol: TRMT5
disease_id: OMIM:616539
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
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: 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: NSUN3
disease_id: OMIM:619012
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: TK2
disease_id: OMIM:609560
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: C1QBP
disease_id: OMIM:617713
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
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: ISCU
disease_id: OMIM:255125
disease_name: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY
gene_symbol: DGUOK
disease_id: OMIM:251880
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
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: 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: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: YARS2
disease_id: OMIM:613561
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
gene_symbol: NFS1
disease_id: OMIM:619386
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52
gene_symbol: UQCC3
disease_id: OMIM:616111
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9
gene_symbol: MIEF2
disease_id: OMIM:619024
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: TAMM41
disease_id: OMIM:620139
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56
gene_symbol: UQCC2
disease_id: OMIM:615824
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: MRPS16
disease_id: OMIM:610498
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2
gene_symbol: UQCRH
disease_id: OMIM:620137
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11