Dystonia (HP:0001332)
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Synonyms: Dystonic movements, Dystonic disease
Cross References: MSH:D004421, UMLS:C0013421, UMLS:C4020871
KEGG Pathway
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | Nicotine addiction | 9.018e-15 | 5.050e-13 | 880.41 | 28472.15 |
| 2 | Long-term potentiation | 9.011e-11 | 1.957e-9 | 321.42 | 7434.41 |
| 3 | Amphetamine addiction | 1.048e-10 | 1.957e-9 | 311.34 | 7154.30 |
| 4 | Cocaine addiction | 6.603e-9 | 4.622e-8 | 295.48 | 5565.60 |
| 5 | Circadian entrainment | 5.976e-10 | 8.366e-9 | 216.28 | 4593.43 |
GO: Biological Process
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | excitatory chemical synaptic transmission (GO:0098976) | 3.147e-9 | 6.383e-8 | 2141.36 | 41921.23 |
| 2 | regulation of NMDA receptor activity (GO:2000310) | 1.893e-12 | 8.958e-11 | 739.37 | 19957.87 |
| 3 | glutamate receptor signaling pathway (GO:0007215) | 4.093e-12 | 1.453e-10 | 623.69 | 16354.24 |
| 4 | response to ethanol (GO:0045471) | 4.082e-8 | 7.246e-7 | 713.50 | 12139.53 |
| 5 | anterograde trans-synaptic signaling (GO:0098916) | 1.927e-14 | 2.737e-12 | 334.81 | 10573.42 |
GO: Molecular Function
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | glutamate-gated calcium ion channel activity (GO:0022849) | 8.995e-10 | 5.509e-9 | 4283.14 | 89214.48 |
| 2 | ionotropic glutamate receptor activity (GO:0004970) | 5.833e-14 | 2.858e-12 | 1664.83 | 50731.79 |
| 3 | NMDA glutamate receptor activity (GO:0004972) | 5.033e-9 | 2.740e-8 | 1713.00 | 32730.63 |
| 4 | ligand-gated channel activity (GO:0022834) | 1.340e-12 | 2.609e-11 | 798.60 | 21832.48 |
| 5 | ligand-gated ion channel activity (GO:0015276) | 1.597e-12 | 2.609e-11 | 767.85 | 20856.82 |
GO: Cellular Component
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | NMDA selective glutamate receptor complex (GO:0017146) | 5.033e-9 | 3.775e-8 | 1713.00 | 32730.63 |
| 2 | ionotropic glutamate receptor complex (GO:0008328) | 1.893e-12 | 5.678e-11 | 739.37 | 19957.87 |
| 3 | cation channel complex (GO:0034703) | 1.400e-10 | 2.100e-9 | 292.97 | 6647.37 |
| 4 | synaptic membrane (GO:0097060) | 2.326e-7 | 0.000001163 | 372.06 | 5682.76 |
| 5 | postsynaptic density membrane (GO:0098839) | 0.00004255 | 0.0001410 | 277.39 | 2791.90 |
Hub genes predicted as biomarkers & predicted FDA approved drugs
| Hub Genes (ranked) | FDA-Approved Drugs |
| GRIN2B | MEMANTINE, FELBAMATE, ACAMPROSATE |
| GRIA2 | PERAMPANEL |
| SCN2A | – |
| CACNA1B | ZICONOTIDE, ZICONOTIDE ACETATE, AMLODIPINE, LEVETIRACETAM |
| KCNA1 | BUPIVACAINE, ISOFLURANE, DESFLURANE |
| GRIN1 | MEMANTINE, ORPHENADRINE |
| GRIN2A | MEMANTINE, GLYCINE, DEXTROMETHORPHAN POLISTIREX |
| CAMK2A | – |
| GABRB2 | – |
| GRIK2 | BUTABARBITAL, BUTETHAL, THIOPENTAL, MEPHOBARBITAL, METHARBITAL, TALBUTAL, BUTALBITAL |
