TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Ophthalmoparesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		0.110 Biomarker phenotype BEFREE Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO, a specific mitochondrial phenotype first reported in 1997 in association with multiple mitochondrial DNA deletions and mutations in POLG1 or more rarely in the C10orf2 (twinkle-helicase) gene. 16919951 2006
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		0.110 Biomarker phenotype HPO