CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
Disease: Mitochondrial Myopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.130 GeneticVariation group BEFREE Mutations in the mitochondrial cytochrome b gene have been commonly associated isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders. 24771578 2015
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.130 GeneticVariation group LHGDN Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene. 12686403 2003
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.130 GeneticVariation group BEFREE Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene. 12686403 2003
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.130 GeneticVariation group BEFREE The sporadic form of mitochondrial myopathy is associated with somatic mutations in the cytochrome b gene of mtDNA. 10502593 1999
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.130 Biomarker group HPO