Disease Term Disease ID Gene Symbol References
External Ophthalmoplegia C0162292 BIN1
SLC25A4
CHAT
DNA2
DNM2
TYMP
FRG1
ATXN3
MTM1
TRNE
TRNK
TRNL1
TRNN
MYF5
MYF6
NPC1 21273508
POLG
RYR1
SCN4A
SDHA
SDHB
SDHD
TK2
POLG2
LRP12
RRM2B
TWNK
MFF
SALL4
MTMR14
SLC19A3
LYRM7
MGME1 23313956
SLC52A3
RNASEH1
SDHAF1
Autosomal dominant progressive external ophthalmoplegia 254892 POLG
POLG2
SLC25A4
TWNK
RRM2B