Disease: Nystagmus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 GeneticVariation disease BEFREE Here we report a novel PMCA3 mutation (G733R substitution) in the catalytic P-domain of the pump in a patient affected by non-progressive ataxia, muscular hypotonia, dysmetria and nystagmus. 28807751 2017
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 Biomarker disease HPO