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: rs17679445
rs17679445
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C1864723
Disease:
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		0.010 GeneticVariation BEFREE The reported data support a pathogenic role of the c.347G>A (p.Arg116Gln) mutation in PNPO deficiency. 28818555 2017