pdk3 Phenotypes

Phenotypes

XB-GENEPAGE-964796

Gene Symbol: pdk3 Gene Name: pyruvate dehydrogenase kinase 3

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: pdk3 assayed (4 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (21 sources): Absent Achilles reflex, Decreased nerve conduction velocity, Difficulty walking, Distal lower limb amyotrophy, Distal sensory impairment, EMG: axonal abnormality, Elevated circulating creatine kinase concentration, Hand muscle weakness, Hand tremor, Hyporeflexia, Impaired vibration sensation in the lower limbs, Lower limb muscle weakness, Motor delay, Peripheral neuropathy, Pes cavus, Polyneuropathy, Sensorimotor neuropathy, Sensorineural hearing impairment, Somatic sensory dysfunction, Steppage gait, Thenar muscle atrophy [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

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

Human (21 sources): Absent Achilles reflex, Decreased nerve conduction velocity, Difficulty walking, Distal lower limb amyotrophy, Distal sensory impairment, EMG: axonal abnormality, Elevated circulating creatine kinase concentration, Hand muscle weakness, Hand tremor, Hyporeflexia, [+]