TSHZ1, teashirt zinc finger homeobox 1, 10194

N. diseases: 93; N. variants: 5
Disease: Cerebellar Ataxia ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 Biomarker phenotype BEFREE Genetic testing showed 40 CAG repeats and 4 CAA interruptions which is the longest repeat number among the families or patients manifesting with a parkinsonian phenotype without ataxia. 28462804 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 GeneticVariation phenotype BEFREE Expansion in the CAA/CAG composite repeat beyond 42 has been shown to cause a cerebellar ataxia, SCA17. 15916858 2005
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 GeneticVariation phenotype BEFREE GSS and PrP-CAA are associated with point mutations of the prion protein gene (PRNP); these conditions show a broad spectrum of clinical presentation, the main signs being ataxia, spastic paraparesis, extrapyramidal signs and dementia. 8737929 1996