Disease: Spinocerebellar ataxia 19 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease UNIPROT Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. 28895081 2018
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease BEFREE Here we describe a Swedish SCA19/22 family spanning five generations and harboring the T377M mutation in KCND3. 29527639 2018
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease BEFREE Recently, we identified loss-of-function mutations in the KCND3 gene as the cause of spinocerebellar ataxia type 19/22 (SCA19/22), revealing a previously unknown role for the voltage-gated potassium channel, Kv4.3, in Purkinje cell survival. 25854634 2015
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GermlineCausalMutation disease ORPHANET Genetics: Mutations in KCND3 linked to spinocerebellar ataxias. 22890214 2012
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease BEFREE KCND3 mutations cause SCA19 by impaired protein maturation and/or reduced channel function. 23280838 2012
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease UNIPROT Mutations in KCND3 cause spinocerebellar ataxia type 22. 23280837 2012
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease UNIPROT KCND3 mutations cause SCA19 by impaired protein maturation and/or reduced channel function. 23280838 2012
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 Biomarker disease BEFREE While it cannot be excluded that the genes lie in close approximation at this locus, it is more likely that the same gene is mutated in both the Dutch and Chinese families, and that SCA19 and SCA22 represent the same condition. 15895560 2005
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 CausalMutation disease CLINVAR
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 Biomarker disease CTD_human
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease CLINVAR
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 Biomarker disease GENOMICS_ENGLAND