Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4519
Gene Symbol: CYTB
CYTB
0.140 GeneticVariation phenotype BEFREE We have analyzed the pathogenic role of a novel homoplasmic mutation (m.15533 A>G) in the cytochrome b (MT-CYB) gene in a patient presenting with lactic acidosis, seizures, mild mental delay, and behaviour abnormalities. 20862300 2010
Entrez Id: 4519
Gene Symbol: CYTB
CYTB
0.140 GeneticVariation phenotype BEFREE Clinical and laboratory data indicate that this defect is the primary cause of the disease, thus adding a new mutation in the cytochrome b gene among the growing number of patients with exercise intolerance and lactic acidosis. 14506725 2003
Entrez Id: 4519
Gene Symbol: CYTB
CYTB
0.140 GeneticVariation phenotype BEFREE We identified a novel mitochondrial cytochrome b mutation in a patient with progressive exercise intolerance, muscle cramps and lactic acidosis. 11731284 2002
Entrez Id: 4519
Gene Symbol: CYTB
CYTB
0.140 Biomarker phenotype BEFREE We sequenced the mtDNA cytochrome b gene in blood and muscle specimens from five patients with severe exercise intolerance, lactic acidosis in the resting state (in four patients), and biochemical evidence of complex III deficiency. 10502593 1999
Entrez Id: 4519
Gene Symbol: CYTB
CYTB
0.140 Biomarker phenotype HPO