SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. 27871429 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 26288984 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. 23497566 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. 23280630 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. 22751902 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. 22441213 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. 21450511 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mutations in SACS cause atypical and late-onset forms of ARSACS. 20876471 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. 19208651 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. 17683082 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 18465152 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients. 17846221 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 16961075 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR A phenotype without spasticity in sacsin-related ataxia. 15985586 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. 16007637 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Identification of a SACS gene missense mutation in ARSACS. 14718708 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. 12873855 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. 11788093 2001
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. 8472930 1993