TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Ptosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 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: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker disease HPO