TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: External Ophthalmoplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		0.110 GeneticVariation disease BEFREE Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia. 21689831 2011
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		0.110 Biomarker disease HPO