Disease Term Disease ID Gene Symbol References
Chronic progressive external ophthalmoplegia C0162674 SLC25A4
C1QBP
DGUOK
DNA2
TYMP
IL1A 7979221
IL1B 7979221
ATXN3
ATP8
TRNK
TRNL1
TRNL2 23696415
TRNN 23696415
TRNS1 23696415
TRNT
POLG 17923349
SOD1 11907800
SOD2 14680979, 11907800
TK2
TOP3A
POLG2
RRM2B
APTX
TWNK
MGME1
RNASEH1
Autosomal recessive progressive external ophthalmoplegia 254886 POLG
TK2