Disease Term Disease ID Gene Symbol References
Ataxias, Hereditary C0004138 TPP1 27604308
FXN 27604308
SLC2A1 27604308
TTPA 26981194
WFS1 30171196
SETX 27604308
ABHD12 27604308
SACS 19892370
SIL1
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT C1970107 VAMP1 27957547, 22958904
TAPBPL
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) C1969796 KIF1C 24482476, 24808017, 24319291, 26633545, 28687974
ATAXIA, SENSORY, AUTOSOMAL DOMINANT C1837015 RNF170 21115467
Ataxia, Spastic, 3, Autosomal Recessive C1969645 MARS2 27604308, 22448145, 16672289, 25754315
Autosomal recessive ataxia due to ubiquinone deficiency 139485 COQ8A
Autosomal recessive ataxia due to PEX10 deficiency 247815 PEX10
Autosomal recessive ataxia, Beauce type 88644 SYNE1