Dystonia

Disease Term Disease ID Gene Symbol References
Adult-Onset Dystonias C0752197 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
Adult-Onset Idiopathic Focal Dystonias C0752198 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
Adult-Onset Idiopathic Torsion Dystonias C0752199 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
Autosomal Dominant Familial Dystonia C0752200 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
Autosomal dominant focal dystonia, DYT25 type 329466 GNAL
Autosomal Recessive Familial Dystonia C0752201 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
CERVICAL DYSTONIA, PRIMARY C1865819 CIZ1 22447717
Childhood Onset Dystonias C0752202 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
MECR
THAP1 23222958
CHOREOATHETOSIS/SPASTICITY, EPISODIC C1832855 SLC2A1 18577546, 27725288, 21832227, 25108116
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT C1851945 TOR1A 18827015, 11523564, 9288096, 10627938, 25403864, 27490483, 21168499, 18167355, 15505207, 19955557, 18477710, 16537570, 24896178, 9576529, 16361107, 14970196, 20169475, 10435508, 28516161, 17428918, 21102408
DYSTONIA 12 C1868681 ATP1A3 22534615, 26400718, 27268479, 26410222, 19652145, 22842232, 22850527, 17282997, 19351654, 20558373, 24468074, 25447930, 25056583, 27634470, 24523486, 17595045, 25996915, 24631656, 15260953, 27726050, 29397530, 24842602, 24431296, 23483595, 25523819, 28441826, 29066118, 20576601, 25681536, 23409136, 24100174, 17516473
DYSTONIA 13, TORSION C1843264 DYT13 11261511
Dystonia 16 210571 PRKRA
DYSTONIA 16 (disorder) C2677567 PRKRA 26990861, 25142429, 18243799, 18420150, 25914261, 26231208
CHROMR 26231208, 18243799, 25142429, 26990861
DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (disorder) C2676281 DYT17 18688663
DYSTONIA 18 (disorder) C1842534 SLC2A1 27725288, 10980529, 19630075, 20574033, 21791420, 18577546, 27604308, 14605501, 20129935, 20621801, 25108116, 21204808, 20830593, 18451999, 21832227, 19798636
PRRT2 23398397, 22209761, 22902309
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) C1857093 HPCA 25799108, 28398555, 30145809
DYSTONIA 21 C3281236 DYT21 21301909
DYSTONIA 23 C3538999 CIZ1 22447717
DYSTONIA 24 C3554374 ANO3 27392807, 23200863, 24442708
DYSTONIA 25 C3554447 GNAL 26725140, 26506956, 23222958, 27093447, 24729450, 23449625, 27222887, 24408567
DYSTONIA 27 C4225336 COL6A3 26004199, 11992252
DYSTONIA 28, CHILDHOOD-ONSET C4310633 KMT2B 27992417, 31216378, 27839873, 28520167
Dystonia 3, Torsion, X-Linked C1839130 TAF1 12928496, 23184149, 26879577
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) C1851943 TUBB4A 24526230, 25497598, 23424103, 25655951, 23582646
Dystonia 6, torsion (disorder) C1414216 THAP1 28299530, 26275586, 26486352, 21839475, 21793105, 21495072, 24976531, 21425341, 21800139, 19345147, 20211909, 20825472, 21520283, 19182804, 20083799, 19908320, 25385508, 21847143, 21425335, 20687191, 20669277, 20865765, 19908325, 22377579, 21110056, 20629133
DYSTONIA 7, TORSION (disorder) C1865818 CIZ1 22447717
Dystonia Disorders C0393593 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
Dystonia Musculorum Deformans C0013423 ADAR
TOR1A
HPCA
SLC2A1
TAF1
TUBB4A
THAP1
PANK2
PRRT2
Dystonia, Primary C0752203 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
Dystonia, Secondary C0752205 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
Dystonias, Sporadic C0752206 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
Early onset torsion dystonia C3888090 TOR1A 16537570, 11523564
Familial Dystonia C0752207 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
Idiopathic familial dystonia C0393598 TOR1A 23222958
GLRA1 17114051
GNAL 23222958
ALDH5A1 17438226
PRKRA 18243799
KMT2B
THAP1 23222958
Juvenile-onset dystonia C1846331 ACTB 12325076, 16685646, 29788902
Primary dystonia, DYT13 type 98807 DYT13
Primary dystonia, DYT17 type 370103 DYT17
Primary dystonia, DYT2 type 99657 HPCA
Primary dystonia, DYT21 type 306734 DYT21
Primary dystonia, DYT27 type 464440 COL6A3
Primary dystonia, DYT4 type 98805 TUBB4A
Primary dystonia, DYT6 type 98806 THAP1