rs780247476, SACS

N. diseases: 2
Disease: Spastic Paraplegia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. 21745802 2011
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
0.700 CausalMutation CLINVAR Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. 19892370 2010
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
0.700 CausalMutation CLINVAR ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 18465152 2008