TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Cerebellar Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.020 Biomarker group BEFREE Patients with SCA5, SCA6, and SCA8 demonstrated a predominant cerebellar syndrome, whereas patients with SCA1, SCA2, SCA3, SCA4, and SCA7 frequently had clinical features indicating an extracerebellar involvement. 16037936 2005
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.020 Biomarker group BEFREE All seven symptomatic subjects with the SCA 8 expansion had a cerebellar syndrome; four had upper motor neurone signs; and 5/6 assessed had cognitive complaints. 14966165 2004