Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7084
Gene Symbol: TK2
TK2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 GeneticVariation BEFREE The first patient, a 44-year-old woman, had bilateral eyelid ptosis and the m.8305C>T mutation in the MTTK gene. 29174468

2018

Entrez Id: 7084
Gene Symbol: TK2
TK2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO