PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894629
rs104894629
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 		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: rs773450573
rs773450573
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		A 0.800 CausalMutation CLINVAR Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. 28985901 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: rs104894629
rs104894629
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 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs104894629
rs104894629
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
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
dbSNP: rs104894629
rs104894629
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		T 0.800 CausalMutation CLINVAR
dbSNP: rs773450573
rs773450573
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs550423482
rs550423482
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C0036572
Disease:
Seizures 		0.710 GeneticVariation BEFREE Data suggest that certain genotypes (R225H/C and D33V) are more likely to result in seizures that to respond to treatment with pyridoxine. 24645144 2014
dbSNP: rs550423482
rs550423482
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C0036572
Disease:
Seizures 		A 0.710 CausalMutation CLINVAR
dbSNP: rs370243877
rs370243877
Entrez Id: 55163;100506325
Gene Symbol: PNPO;SP2-AS1
PNPO;SP2-AS1
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031 2016
dbSNP: rs370243877
rs370243877
Entrez Id: 55163;100506325
Gene Symbol: PNPO;SP2-AS1
PNPO;SP2-AS1
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. 25256445 2014
dbSNP: rs370243877
rs370243877
Entrez Id: 55163;100506325
Gene Symbol: PNPO;SP2-AS1
PNPO;SP2-AS1
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. 24645144 2014
dbSNP: rs769266169
rs769266169
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. 24645144 2014
dbSNP: rs370243877
rs370243877
Entrez Id: 55163;100506325
Gene Symbol: PNPO;SP2-AS1
PNPO;SP2-AS1
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid. 23419474 2013
dbSNP: rs769266169
rs769266169
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. 21292558 2011
dbSNP: rs370243877
rs370243877
Entrez Id: 55163;100506325
Gene Symbol: PNPO;SP2-AS1
PNPO;SP2-AS1
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. 20370816 2010
dbSNP: rs104894631
rs104894631
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267606958
rs267606958
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs550423482
rs550423482
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1833308
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		A 0.700 CausalMutation CLINVAR
dbSNP: rs550423482
rs550423482
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1386048
Disease:
Intrauterine retardation 		A 0.700 CausalMutation CLINVAR
dbSNP: rs550423482
rs550423482
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C0456070
Disease:
Growth delay 		A 0.700 CausalMutation CLINVAR