ears2 Phenotypes

XB-GENEPAGE-970847

Gene Symbol: ears2 Gene Name: glutamyl-tRNA synthetase 2, mitochondrial

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: ears2 assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (25 sources): Absent speech, Bradykinesia, Cholestasis, Cleft palate, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, Developmental regression, Dysplastic corpus callosum, Dystonia, Failure to thrive, Global developmental delay, Hepatomegaly, Hypoplasia of the corpus callosum, Increased serum lactate, Lactic acidosis, Leukoencephalopathy, Macrovesicular hepatic steatosis, Neonatal hypotonia, Ophthalmoplegia, Ptosis, Ragged-red muscle fibers, Seizure, Spastic tetraparesis, Visual impairment [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

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

Human (25 sources): Absent speech, Bradykinesia, Cholestasis, Cleft palate, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, Developmental regression, Dysplastic corpus callosum, Dystonia, [+]