SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751568153
rs751568153
Entrez Id: 26278
Gene Symbol: SACS
SACS
CUI: C1849140
Disease:
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		A 0.700 GeneticVariation CLINVAR Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature. 24384335 2014
dbSNP: rs751568153
rs751568153
Entrez Id: 26278
Gene Symbol: SACS
SACS
CUI: C1849140
Disease:
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		A 0.700 GeneticVariation CLINVAR Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. 23280630 2013