SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
Disease: Spastic Paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation disease CLINVAR Diversity of ARSACS mutations in French-Canadians. 23250129 2013
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 GeneticVariation disease BEFREE A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. 23800155 2013
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 GeneticVariation disease CLINVAR Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. 23497566 2013
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation disease CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. 21745802 2011
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation disease CLINVAR Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. 19892370 2010
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation disease CLINVAR ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 18465152 2008
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation disease CLINVAR Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. 11788093 2001
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation disease CLINVAR ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. 10655055 2000