Disease Term Disease ID Gene Symbol References
Spastic Ataxia C1849156 VAMP1
TBCE
CACNA1G
TUBB3
KIF1C
AFG3L2
SACS
MMADHC
GLRX5
MTPAP
DARS2
PRDM8
MARS2
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE C3280977 AFG3L2 30544562, 22022284, 27165006, 22964162, 27604308
TUBB6
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE C1849140 SACS 17716690, 26288984, 21597885, 21993619, 12873855, 19529988, 23250129, 24384335, 20876471, 23497566, 22805644, 16944349, 19208651, 27871429, 23338241, 21507954, 23280630, 21665375, 10655055, 26010040, 17516465, 16007637, 23043354, 20368637, 18604465, 15985586, 16961075, 22816526, 24318559, 18465152, 18398442, 15156359, 17290461, 18569450, 17349660, 20852969, 19892370, 11788093, 21450511, 28641335, 18484239, 27133561, 26366743, 26068213, 22751902, 28658401, 14718708, 15486997, 20798953
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE C3150925 MTPAP 20970105, 27391121, 27959697
Autosomal dominant spastic ataxia type 1 251282 VAMP1