TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Parkinson Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.240 Biomarker disease BEFREE SCA6 and SCA8 have also been reported with a PD-like phenotype. 25866756 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.240 AlteredExpression disease BEFREE Hierarchical clustering analysis identified TWINKLE (PEO1) as the gene whose expression profile was most similar to that of Herp across the PD cohort. 19788048 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.240 GeneticVariation disease LHGDN Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. 17620490 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.240 Biomarker disease BEFREE This study appears to be the first report describing the PD phenotype in association with an expanded allele in the TATA-binding protein gene and suggests that SCA8 may also be a cause of typical PD. 14756671 2004
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.240 Biomarker disease MGD