pnpo Phenotypes

Phenotypes

XB-GENEPAGE-955838

Gene Symbol: pnpo Gene Name: pyridoxamine 5'-phosphate oxidase

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: pnpo assayed (2 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (34 sources): Abnormal circulating arginine concentration, Abnormal circulating glycine concentration, Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Abnormal circulating tyrosine concentration, Abnormality of eye movement, Abnormality of the amniotic fluid, Anemia, Axial hypotonia, Decreased CSF homovanillic acid concentration, EEG with burst suppression, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Global brain atrophy, Global developmental delay, High-pitched cry, Hypoargininemia, Hypoglycemia, Increased circulating lactate concentration, Low APGAR score, Metabolic acidosis, Microcephaly, Myoclonus, Premature birth, Progressive microcephaly, Pyridoxine-responsive sideroblastic anemia, Rotary nystagmus, Seizure, Spasticity, Status epilepticus, Unsteady gait [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

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

Human (34 sources): Abnormal circulating arginine concentration, Abnormal circulating glycine concentration, Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Abnormal circulating tyrosine concentration, Abnormality of eye movement, Abnormality of the amniotic fluid, Anemia, Axial hypotonia, Decreased CSF homovanillic acid concentration, [+]