ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.130 Biomarker disease BEFREE SCA 6 was characterized by frequent occurrence of nystagmus and abnormal pursuit and rarity of slow saccades and ophthalmoparesis and SCA 2 by the frequent occurrence of slow saccades and infrequent nystagmus and dysmetric saccades. 25259863 2015
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.130 GeneticVariation disease BEFREE Areflexia, slow saccades and hypopallesthesia predominated in SCA2; nystagmus, pyramidal signs or areflexia restricted to the legs in SCA 3; and retinal degeneration, pyramidal signs and slow saccades in SCA 7. 15876341 2005
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.130 GeneticVariation disease BEFREE There were characteristic clinical features such as hypotonia and optic atrophy for SCA1; hyporeflexia for SCA2; nystagmus, bulging eye, and dystonia for SCA3; and macular degeneration for SCA7. 12810491 2003
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.130 Biomarker disease HPO