Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 CausalMutation phenotype CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE Whereas PEO1 mutations were not found in our cohort, POLG frequently caused ataxia with PEO (47%), psychiatric comorbidities (20%) and, more rarely, with epilepsy (14%). 20803511 2010
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 Biomarker phenotype BEFREE Spinocerebellar ataxia type 8 (SCA 8) is an autosomal dominant disorder characterized by cerebellar ataxia with additional features, such as upper motor neuron signs, urinary incontinence and dysphagia. 18980793 2009
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 Biomarker phenotype BEFREE The SCA 8 expansion is associated with ataxia in Scotland. 18095954 2008
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE We report two patients who developed other causes of ataxia in the setting of SCA-3 and SCA-8 mutations, respectively. 16621237 2007
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE Targeted deletion of the KLHL1 gene in Purkinje neurons results in dendritic deficits in these neurons, abnormal gait, and progressive loss of motor coordination in mice [He Y, Zu T, Benzow KA, Orr HT, Clark HB, Koob MD (2006) Targeted deletion of a single SCA8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits.J Neurosci 26:9975-9982]. 17289272 2007
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE Early onset of ataxia in a child with a pathogenic SCA8 allele. 16087061 2005
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 Biomarker phenotype BEFREE To establish whether the DNA expansion linked to spinocerebellar ataxia type 8 (SCA 8) is associated with ataxia in Scotland; to clarify the range of associated clinical phenotypes; and to compare the findings with previous reports. 14966165 2004
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE We speculate that the presence of a large SCA8 CTA/CTG repeat allele influences the function of channels such as alpha(1A)-voltage-dependent calcium channel through changing or aberrant splicing, resulting in the development of cerebellar ataxia, especially in homozygous patients. 12545428 2003
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE Do CTG expansions at the SCA8 locus cause ataxia? 12838526 2003
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE These results are in agreement with the hypothesis of the CTG expansion in the SCA8 locus being responsible for the SCA8 ataxia showing reduced penetrance. 12431257 2002
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE Isolated patients also had TNR expansions at the MJD1 (6%), SCA8 (6%), or FRDA (8%) genes; in addition, an expanded allele at the TATA-binding protein gene (TBP), with 43 CAGs, was present in a patient with ataxia and mental deterioration. 11939898 2002
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 Biomarker phenotype BEFREE SCA8 repeat expansions in ataxia: a controversial association. 11591855 2001
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE We analyzed the CTG repeat region of the SCA8 gene in a series of Japanese patients with cerebellar ataxia. 10690991 2000
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE Preliminary evidence suggests that large repeat alleles at SCA8 that are non-penetrant for ataxia may be a susceptibility factor for major psychosis. 10813808 2000
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.200 GeneticVariation phenotype BEFREE We have previously assigned the IOSCA locus (HGMW-approved symbol SCA8) to chromosome 10q, where no previously identified ataxia loci are located. 9027505 1997