Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.030 GeneticVariation disease BEFREE As sleep disturbances have been reported in spinocerebellar ataxias (SCAs), including types SCA1, SCA2, SCA3, SCA6 and SCA13, identification and management of these disturbances can help minimise their impact on SCA patients' overall body functions and quality of life. 29624773 2018
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.030 GeneticVariation disease BEFREE The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders, among which SCA subtype 13 (SCA13) was found associated with mutations in the KCNC3 gene. 23293936 2013
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.030 GeneticVariation disease BEFREE Mutations in KCNC3 are a rare cause of spinocerebellar ataxia with a frequency of less than 1%. 21479265 2011