SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776537
rs587776537
Entrez Id: 23064
Gene Symbol: SETX
SETX
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. 19696032 2009
dbSNP: rs587776537
rs587776537
Entrez Id: 23064
Gene Symbol: SETX
SETX
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. 15732101 2005
dbSNP: rs587776537
rs587776537
Entrez Id: 23064
Gene Symbol: SETX
SETX
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). 15106121 2004
dbSNP: rs587776537
rs587776537
Entrez Id: 23064
Gene Symbol: SETX
SETX
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. 14770181 2004