Abnormality of movement (HP:0100022)
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Synonyms: Abnormality of movement, Movement disorder, Unusual movemen
tComment: Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy.
Cross References: MSH:D009069, SNOMEDCT_US:60342002, UMLS:C0026650
KEGG Pathway
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | Phototransduction | 0.00008446 | 0.0005068 | 191.96 | 1800.45 |
| 2 | Retinol metabolism | 0.03349 | 0.09401 | 33.04 | 112.22 |
| 3 | Drug metabolism | 0.05272 | 0.09401 | 20.65 | 60.76 |
| 4 | Purine metabolism | 0.06267 | 0.09401 | 17.24 | 47.76 |
| 5 | cGMP-PKG signaling pathway | 0.08045 | 0.09654 | 13.27 | 33.44 |
GO: Biological Process
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | eye photoreceptor cell development (GO:0042462) | 0.00002354 | 0.0004630 | 384.17 | 4094.01 |
| 2 | visual perception (GO:0007601) | 9.004e-8 | 0.000002895 | 149.07 | 2418.38 |
| 3 | sensory perception of light stimulus (GO:0050953) | 9.813e-8 | 0.000002895 | 145.78 | 2352.45 |
| 4 | retinal rod cell development (GO:0046548) | 0.003495 | 0.02240 | 370.07 | 2093.27 |
| 5 | regulation of rhodopsin mediated signaling pathway (GO:0022400) | 0.00006709 | 0.0009895 | 217.03 | 2085.58 |
GO: Molecular Function
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | leucine zipper domain binding (GO:0043522) | 0.00001010 | 0.0002829 | 624.44 | 7182.69 |
| 2 | LRR domain binding (GO:0030275) | 0.00002041 | 0.0002857 | 416.21 | 4494.85 |
| 3 | guanylate cyclase activator activity (GO:0030250) | 0.002498 | 0.01397 | 555.17 | 3326.77 |
| 4 | NADP-retinol dehydrogenase activity (GO:0052650) | 0.002997 | 0.01397 | 444.11 | 2580.41 |
| 5 | intracellular cGMP-activated cation channel activity (GO:0005223) | 0.003495 | 0.01397 | 370.07 | 2093.27 |
GO: Cellular Component
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | sperm flagellum (GO:0036126) | 0.02570 | 0.1545 | 43.44 | 159.04 |
| 2 | 9+2 motile cilium (GO:0097729) | 0.02814 | 0.1545 | 39.55 | 141.22 |
| 3 | azurophil granule lumen (GO:0035578) | 0.04411 | 0.1545 | 24.85 | 77.54 |
| 4 | cytoplasmic vesicle lumen (GO:0060205) | 0.05605 | 0.1545 | 19.37 | 55.82 |
| 5 | ficolin-1-rich granule lumen (GO:1904813) | 0.05984 | 0.1545 | 18.09 | 50.96 |
Hub genes predicted as biomarkers & predicted FDA approved drugs
| Hub Genes (ranked) | FDA-Approved Drugs |
| RDH12 | – |
| NR2E3 | – |
| CRX | – |
| GUCA1B | – |
| PRPH2 | – |
| RPGR | – |
| TULP1 | – |
| CNGA1 | DEQUALINIUM |
| IMPDH1 | MYCOPHENOLATE MOFETIL HYDROCHLORIDE, RIBAVIRIN, MYCOPHENOLATE MOFETIL, MYCOPHENOLIC ACID |
| NRL | – |
