TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Blepharoptosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.120 GeneticVariation disease BEFREE Although the incidental association of OT and C10orf2 TWINKLE mutation is possible, the simultaneous onset of OT and eyelid ptosis at a much younger age than usually observed for OT raises the possibility of mitochondrial dysfunction and loss of mitochondrial DNA integrity in the pathogenesis of OT. 24061067 2013
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.120 GeneticVariation disease BEFREE Autosomal dominant progressive external ophthalmoplegia due to the p.R357P PEO1 mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly. 24018892 2013
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.120 Biomarker disease HPO