DisGeNET - a database of gene-disease associations

PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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:

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:

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:

rs104894629

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs550423482

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.800

CausalMutation

CLINVAR

Pyridoxine responsiveness in novel mutations of the PNPO gene.

24658933

2014

dbSNP:

rs550423482

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.800

CausalMutation

CLINVAR

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

24645144

2014

dbSNP:

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

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

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:

rs773450573

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.800

CausalMutation

CLINVAR

Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

28985901

2017

dbSNP:

rs773450573

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.800

GeneticVariation

UNIPROT

dbSNP:

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

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C0036572
Disease:

Seizures

0.710

CausalMutation

CLINVAR

dbSNP:

rs104894631

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606958

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs550423482

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1833308
Disease:

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V

0.700

CausalMutation

CLINVAR

dbSNP:

rs550423482

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1386048
Disease:

Intrauterine retardation

0.700

CausalMutation

CLINVAR

dbSNP:

rs550423482

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C0456070
Disease:

Growth delay

0.700

CausalMutation

CLINVAR

dbSNP:

rs769266169

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.700

CausalMutation

CLINVAR

Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.

21292558

2011

dbSNP:

rs769266169

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.700

CausalMutation

CLINVAR

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

24645144

2014

dbSNP:

rs774710082

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs780977054

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs796052872

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C1864723
Disease:

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs104894629

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C0543888
Disease:

Epileptic encephalopathy

0.010

GeneticVariation

BEFREE

Our aim is to elucidate the mechanism by which a homozygous missense mutation (R229W) in the oxidase, linked to neonatal epileptic encephalopathy, leads to reduced oxidase activity.

19759001

2009

dbSNP:

rs17679445

Entrez Id:	55163
Gene Symbol:	PNPO

PNPO

CUI:	C0014544
Disease:

Epilepsy

0.010

GeneticVariation

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