PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs550423482
rs550423482
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs550423482
rs550423482
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		A 0.800 CausalMutation CLINVAR Pyridoxine responsiveness in novel mutations of the PNPO gene. 24658933 2014
dbSNP: rs550423482
rs550423482
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		A 0.800 CausalMutation CLINVAR Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. 24645144 2014
dbSNP: rs550423482
rs550423482
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs550423482
rs550423482
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. 15772097 2005