Ataxia
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 |