ndufa12 Phenotypes

Phenotypes

XB-GENEPAGE-5730171

Gene Symbol: ndufa12 Gene Name: NADH:ubiquinone oxidoreductase subunit A12

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: ndufa12 assayed (2 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (33 sources): Abnormality of movement, Acidosis, Anemia, Apnea, Decreased activity of mitochondrial respiratory chain, Decreased activity of the pyruvate dehydrogenase complex, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Global developmental delay, Hearing impairment, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypotonia, Increased CSF lactate, Increased circulating lactate concentration, Intellectual disability, severe, Leukodystrophy, Nystagmus, Ophthalmoplegia, Optic atrophy, Peripheral neuropathy, Pigmentary retinopathy, Progressive cerebellar ataxia, Progressive spastic paraplegia, Ptosis, Seizure, Spasticity, Strabismus, Ventricular septal defect [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

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

Human (33 sources): Abnormality of movement, Acidosis, Anemia, Apnea, Decreased activity of mitochondrial respiratory chain, Decreased activity of the pyruvate dehydrogenase complex, Dysarthria, Dystonia, Emotional lability, Failure to thrive, [+]