Ataxia (HP:0001251)
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Synonyms: Cerebellar ataxia
Comment: Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia.
Cross References: MSH:D002524, SNOMEDCT_US:85102008, UMLS:C0007758
GO: Biological Process
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | cilium assembly (GO:0060271) | 7.884e-19 | 9.855e-18 | 196860.00 | 8205971.98 |
| 2 | ciliary basal body-plasma membrane docking (GO:0097711) | 8.302e-21 | 2.075e-19 | 2082.98 | 96312.24 |
| 3 | smoothened signaling pathway (GO:0007224) | 3.049e-12 | 1.270e-11 | 665.33 | 17642.09 |
| 4 | protein localization to ciliary transition zone (GO:1904491) | 0.000003371 | 0.00001204 | 1249.13 | 15739.23 |
| 5 | cilium organization (GO:0044782) | 1.113e-14 | 9.273e-14 | 359.45 | 11549.06 |
GO: Cellular Component
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | ciliary membrane (GO:0060170) | 4.016e-7 | 0.000001606 | 305.54 | 4499.94 |
| 2 | cilium (GO:0005929) | 5.245e-10 | 4.196e-9 | 128.31 | 2741.69 |
| 3 | cell projection membrane (GO:0031253) | 0.00001104 | 0.00002944 | 95.83 | 1093.80 |
| 4 | motile cilium (GO:0031514) | 0.03349 | 0.04466 | 33.04 | 112.22 |
| 5 | cell-cell junction (GO:0005911) | 0.007662 | 0.01226 | 18.33 | 89.29 |
Hub genes predicted as biomarkers & predicted FDA approved drugs
| Hub Genes (ranked) | FDA-Approved Drugs |
| B9D1 | – |
| CC2D2A | – |
| MKS1 | – |
| TMEM216 | – |
| RPGRIP1L | – |
| TCTN2 | – |
| NPHP1 | – |
| TMEM231 | – |
| TCTN3 | – |
| TCTN1 | – |
