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: 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: 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: 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