SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.770 Biomarker disease GENOMICS_ENGLAND Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. 23881933 2013
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.770 Biomarker disease GENOMICS_ENGLAND Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression. 21438761 2011
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.770 Biomarker disease GENOMICS_ENGLAND To identify the molecular basis of ALS4, we tested 19 genes within the ALS4 interval and detected missense mutations (T3I, L389S, and R2136H) in the Senataxin gene (SETX). 15106121 2004
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.300 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation disease UNIPROT Mutations in the Senataxin gene (SETX) are associated with autosomal recessive ataxia-ocular apraxia 2 (AOA2) and autosomal dominant juvenile ALS (ALS4). 16717225 2006
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation disease UNIPROT The patient carrying the p.K992R SETX polymorphism had a phenotype similar to that of the diagnosed AOA2 patients, while the other three undiagnosed subjects had a very late onset and a few distinguishing clinical features. 23941260 2013
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation disease UNIPROT Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. 14770181 2004
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation disease UNIPROT Senataxin (SETX) is an RNA/DNA helicase implicated in transcription termination and the DNA damage response and is mutated in two distinct neurological disorders: AOA2 (ataxia oculomotor apraxia 2) and ALS4 (amyotrophic lateral sclerosis 4). 24105744 2013
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation disease UNIPROT In this paper, we document two cases of a new SETX mutation (820:A>G) combined with an established recessive SETX mutation (5927:T>G) causing ataxia with oculomotor apraxia type 2 (AOA2). 23566282 2013
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation disease UNIPROT Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. 23786967 2013
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation disease UNIPROT In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. 17096168 2007
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation disease UNIPROT A severe recessive cerebellar ataxia, Ataxia-Oculomotor Apraxia 2 (AOA2) and a juvenile onset form of dominant amyotrophic lateral sclerosis (ALS4) result from mutations of the Senataxin (SETX) gene. 16644229 2006
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.770 GeneticVariation disease UNIPROT A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage. 24105744 2013
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.770 GeneticVariation disease UNIPROT We further found that L389S senataxin interacts with other proteins containing regions of conserved homology with the BCYRN1 reverse complement-encoded peptide, suggesting that such aberrant protein interactions may contribute to L389S ALS4 disease pathogenesis. 24244371 2013
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.770 GeneticVariation disease UNIPROT Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. 14770181 2004
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.770 GeneticVariation disease UNIPROT To identify the molecular basis of ALS4, we tested 19 genes within the ALS4 interval and detected missense mutations (T3I, L389S, and R2136H) in the Senataxin gene (SETX). 15106121 2004
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.770 GeneticVariation disease UNIPROT Senataxin mutations and amyotrophic lateral sclerosis. 21190393 2011
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.800 GermlineCausalMutation disease ORPHANET Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. 14770181 2004
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.770 GermlineCausalMutation disease ORPHANET Complex genetics of amyotrophic lateral sclerosis. 15478096 2004
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		0.770 GermlineCausalMutation disease ORPHANET To identify the molecular basis of ALS4, we tested 19 genes within the ALS4 interval and detected missense mutations (T3I, L389S, and R2136H) in the Senataxin gene (SETX). 15106121 2004
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 Biomarker disease HPO