| DYSTONIA 24 |
C3554374 |
ANO3
|
Causal
Pathogenic evidence from ClinVar
|
23200863, 24442708, 27392807 |
ClinVar |
| DYSTONIA 12 |
C1868681 |
ATP1A3
|
Causal
Pathogenic evidence from ClinVar
|
15260953, 17282997, 17516473, 17595045, 19351654, 19652145, 20558373, 20576601, 22534615, 22842232, 22850527, 23409136, 23483595, 24100174, 24431296, 24468074, 24523486, 24631656, 24842602, 25056583, 25447930, 25523819, 25681536, 25996915, 26400718, 26410222, 27268479, 27634470, 27726050, 28441826, 29066118, 29397530 |
ClinVar |
| DYSTONIA 27 |
C4225336 |
COL6A3
|
Causal
Pathogenic evidence from ClinVar
|
11992252, 26004199 |
ClinVar |
| Primary dystonia, DYT27 type |
464440 |
COL6A3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Adult-Onset Dystonias |
C0752197 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| Adult-Onset Idiopathic Focal Dystonias |
C0752198 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| Adult-Onset Idiopathic Torsion Dystonias |
C0752199 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| Autosomal Dominant Familial Dystonia |
C0752200 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| Autosomal dominant focal dystonia, DYT25 type |
329466 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal Recessive Familial Dystonia |
C0752201 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| Childhood Onset Dystonias |
C0752202 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| DYSTONIA 25 |
C3554447 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958, 23449625, 24408567, 24729450, 26506956, 26725140, 27093447, 27222887 |
ClinVar |
| Dystonia Disorders |
C0393593 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| Dystonia, Primary |
C0752203 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| Dystonia, Secondary |
C0752205 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| Dystonias, Sporadic |
C0752206 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| Familial Dystonia |
C0752207 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| Idiopathic familial dystonia |
C0393598 |
GNAL
|
Causal
Pathogenic evidence from ClinVar
|
23222958 |
ClinVar |
|
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799 |
ClinVar |
| DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) |
C1857093 |
HPCA
|
Causal
Pathogenic evidence from ClinVar
|
25799108, 28398555, 30145809 |
ClinVar |
| Dystonia Musculorum Deformans |
C0013423 |
HPCA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PANK2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Primary dystonia, DYT2 type |
99657 |
HPCA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| DYSTONIA 28, CHILDHOOD-ONSET |
C4310633 |
KMT2B
|
Causal
Pathogenic evidence from ClinVar
|
27839873, 27992417, 28520167, 31216378 |
ClinVar |
| Dystonia 16 |
210571 |
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| DYSTONIA 16 (disorder) |
C2677567 |
PRKRA
|
Causal
Pathogenic evidence from ClinVar
|
18243799, 18420150, 25142429, 25914261, 26231208, 26990861 |
ClinVar |
| CHOREOATHETOSIS/SPASTICITY, EPISODIC |
C1832855 |
SLC2A1
|
Causal
Pathogenic evidence from ClinVar
|
18577546, 21832227, 25108116, 27725288 |
ClinVar |
