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: 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.010 GeneticVariation group BEFREE We report the case of a 29 year old woman with a complex movement disorder syndrome due to the combination of coexisting pathological triplet repeat expansions of huntingtin and ATXN8 genes. 20403608 2010
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism 		0.010 GeneticVariation disease BEFREE In the present study, we assessed the SCA8 repeat size ranges in Taiwanese Parkinson's disease, Alzheimer's disease and atypical parkinsonism and investigated the genetic variation modulating ATXN8 expression. 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: 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: 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: 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 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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.100 Biomarker phenotype HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0234853
Disease: Facial grimacing
Facial grimacing 		0.100 Biomarker phenotype HPO
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.100 Biomarker disease HPO