PDXK, pyridoxal kinase, 8566

N. diseases: 27; N. variants: 3
Disease: Optic Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.010 GeneticVariation disease BEFREE We identified biallelic mutations in PDXK in 5 individuals from 2 unrelated families with primary axonal polyneuropathy and optic atrophy. 31187503 2019