cox5a Phenotypes

Phenotypes

XB-GENEPAGE-973616

Gene Symbol: cox5a Gene Name: cytochrome c oxidase subunit Va

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: cox5a assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (35 sources): Aminoaciduria, Anemia, Ataxia, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, High palate, Hyperphosphaturia, Hypertrophic cardiomyopathy, Hypotonia, Increased CSF lactate, Increased circulating lactate concentration, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Intellectual disability, Lactic acidosis, Leukoencephalopathy, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizure, Sensorineural hearing impairment, Weakness of facial musculature [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

These phenotypes are associated with this gene with a has phenotype relation via Monarch.

Human (35 sources): Aminoaciduria, Anemia, Ataxia, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, [+]