Disease Term Disease ID Gene Symbol References
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA C1859598 MRE11 10612394
PNKP
APTX 11586300, 14506070, 24362567, 15699391, 28652255, 11176957, 12629250, 17242337, 12196655, 15852392, 21465257, 24896178, 11586299, 15790557, 27604308
ATAXIA-OCULOMOTOR APRAXIA 4 C4225397 PNKP 30039206, 25728773
ATAXIA-OCULOMOTOR APRAXIA 3 C3554690 PIK3R5 22065524
Ataxia-oculomotor apraxia type 1 1168 APTX
Ataxia-oculomotor apraxia type 4 459033 PNKP