TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Ataxic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234366
Disease: Ataxic
Ataxic 		0.020 GeneticVariation phenotype BEFREE The methods included: (i) measurement of SCA 8 expansion frequencies in ataxic patients and healthy controls; (ii) comprehensive neuropsychological assessment of patients with SCA 8 and matched controls, neuropsychiatric interview; and (iii) comparison of patient and matched control magnetic resonance imaging (MRI) scans. 18095954 2008
CUI: C0234366
Disease: Ataxic
Ataxic 		0.020 GeneticVariation phenotype BEFREE Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 15668446 2005