Disease: Ataxic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234366
Disease: Ataxic
Ataxic 		0.010 GeneticVariation phenotype BEFREE A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect. 28807751 2017