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