CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.100 GeneticVariation disease CLINVAR Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. 11601507 2001
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.100 CausalMutation disease CLINVAR Functional characterization of novel mutations in the human cytochrome b gene. 11464242 2001
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.100 CausalMutation disease CLINVAR Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. 10502593 1999
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.100 GeneticVariation disease CLINVAR Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation. 8988236 1996
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.100 GeneticVariation disease CLINVAR A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. 8910895 1996