ATXN7, ataxin 7, 6314

N. diseases: 162; N. variants: 13
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.110 GeneticVariation phenotype BEFREE Spinocerebellar Ataxia type 7 (SCA7, OMIM # 164500) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia and blindness. 29427104 2018
CUI: C0456909
Disease: Blindness
Blindness 		0.110 Biomarker phenotype HPO