PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12
Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 AlteredExpression disease BEFREE We believe the reduction in PNPO activity and B6-responsive epilepsy in the patients reported here indicates that it contributes to the pathogenesis of epilepsy. 24645144 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 Biomarker disease BEFREE ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B6 metabolism causing perinatal seizure disorders. 24114605 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report. 26535729 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation. 28818555 2017