ATXN8, ataxin 8, 724066

N. diseases: 45; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 GeneticVariation disease BEFREE Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS gene. 31471687 2019
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 AlteredExpression disease BEFREE Spinocerebellar ataxia type 8 (SCA8) involves the expression of an expanded CTG/CAG combined repeats (CR) from opposite strands producing CUG expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and a polyglutamine expansion protein (ataxin 8, ATXN8). 19203395 2009
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 Biomarker disease GENOMICS_ENGLAND An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) 10192387 1999
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 GeneticVariation disease BEFREE We recently reported a novel -62 G/A polymorphism within ataxin 8 (ATXN8) gene promoter region, with -62 G displaying significantly higher luciferase activity compared with -62 A. Phenotypic variability in spinocerebellar ataxia type 8 (SCA8) has been suggested, and large SCA8 repeats were found in patients with Parkinson's disease (PD). 22577844 2012
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 GermlineCausalMutation disease ORPHANET
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 AlteredExpression disease BEFREE Additional studies demonstrate that the SCA8 expansion is expressed in both directions (CUG and CAG) and that a novel gene expressed in the CAG direction encodes a pure polyglutamine expansion protein (ataxin 8, ATXN8). 18418692 2008
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 AlteredExpression disease BEFREE Although expressed at low steady-state, ATXN8 expression level is significantly higher (P = 0.012) in cells with SCA8 large alleles than that of the control cells. 19229559 2009
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 Biomarker disease CTD_human
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 Biomarker disease BEFREE Spinocerebellar ataxia type 8 (SCA8) is a progressive neurological disorder caused by the expanded repeat CTA/CTG of two overlapping genes, ATXN8OS and ATXN8, expressed bidirectionally. 28229454 2017
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 GeneticVariation disease BEFREE Bi-directional expression of the spinocerebellar ataxia type 8 (SCA8) CTG CAG expansion produces CUG expansion RNAs (CUG(exp)) from the ATXN8OS gene and a nearly pure polyglutamine expansion protein encoded by ATXN8 CAG(exp) transcripts expressed in the opposite direction. 19680539 2009
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 Biomarker disease GENOMICS_ENGLAND An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) 10192387 1999
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.100 Biomarker disease HPO
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C4021761
Disease: Morphological abnormality of the pyramidal tract
Morphological abnormality of the pyramidal tract 		0.100 Biomarker disease HPO
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 AlteredExpression disease BEFREE The ATXN8 transcriptional activity was significantly higher in the luciferase reporter construct containing the -62G allele than that containing the -62A allele in both neuroblastoma and embryonic kidney cells. 19229559 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 AlteredExpression disease BEFREE ChIP-PCR and cDNA over-expression revealed that CCAAT/enhancer-binding protein alpha binds to the ATXN8 proximal promoter to upregulate ATXN8 expression in neuroblastoma SK-N-SH cells. 22577844 2012
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 AlteredExpression disease BEFREE ChIP-PCR and cDNA over-expression revealed that CCAAT/enhancer-binding protein alpha binds to the ATXN8 proximal promoter to upregulate ATXN8 expression in neuroblastoma SK-N-SH cells. 22577844 2012
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 AlteredExpression disease BEFREE The ATXN8 transcriptional activity was significantly higher in the luciferase reporter construct containing the -62G allele than that containing the -62A allele in both neuroblastoma and embryonic kidney cells. 19229559 2009
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.020 AlteredExpression disease BEFREE ChIP-PCR and cDNA over-expression revealed that CCAAT/enhancer-binding protein alpha binds to the ATXN8 proximal promoter to upregulate ATXN8 expression in neuroblastoma SK-N-SH cells. 22577844 2012
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.020 AlteredExpression disease BEFREE The ATXN8 transcriptional activity was significantly higher in the luciferase reporter construct containing the -62G allele than that containing the -62A allele in both neuroblastoma and embryonic kidney cells. 19229559 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 GeneticVariation disease BEFREE Our data suggest that ATXN8 -62 G/A polymorphism plays a role in Taiwanese PD susceptibility. 22577844 2012