Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.010 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