ATXN7, ataxin 7, 6314

N. diseases: 162; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.110 Biomarker phenotype BEFREE SCA-7 presents a wide spectrum of clinical features including visual loss, dementia, hypoacusia, severe hypotonia, and auditory hallucinations. 9781533 1998
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.110 Biomarker phenotype HPO