CAPN1, calpain 1, 823

N. diseases: 165; N. variants: 6
Disease: Ataxia, Spinocerebellar ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.020 GeneticVariation disease BEFREE A CAPN1 missense mutation in Parson Russell Terrier dogs is associated with spinocerebellar ataxia. 27320912 2016
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.020 GeneticVariation disease BEFREE Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. 23741357 2013