PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12
Disease: Seizures ×
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: 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