| Disease ID | Disease name | Source of annotation with CACNA1A | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS160120 | EPISODIC ATAXIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | CACNA1A, KCNA1, SLC1A3, CACNB4 |
| PS164400 | SPINOCEREBELLAR ATAXIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 31 | ATXN10, ATXN2, SCYL1, PDYN, ELOVL5, PRKCG, TRPC3, ATXN8OS, NOP56, ATXN8, TBP, PPP2R2B, ELOVL4, PLEKHG4, ATXN7, AFG3L2, BEAN1, CACNA1A, ATXN1, TTBK2, KCND3, CACNA1G, TMEM240, ATXN3, KCNC3, SPTBN2, TGM6, CCDC88C, FGF14, ITPR1, EEF2 |
| 141500 | MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CACNA1A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Morphine addiction | hsa05032 | 6.15 |
| Calcium signaling pathway | hsa04020 | 5.22 |
| Serotonergic synapse | hsa04726 | 5.84 |
| Synaptic vesicle cycle | hsa04721 | 6.74 |
| Nicotine addiction | hsa05033 | 7.38 |
| Retrograde endocannabinoid signaling | hsa04723 | 6.03 |
| Cholinergic synapse | hsa04725 | 5.88 |
| Glutamatergic synapse | hsa04724 | 5.84 |
| GABAergic synapse | hsa04727 | 6.24 |
| MAPK signaling pathway | hsa04010 | 4.63 |
| Dopaminergic synapse | hsa04728 | 5.69 |
| Type II diabetes mellitus | hsa04930 | 7.12 |
| Long-term depression | hsa04730 | 6.74 |
| Taste transduction | hsa04742 | 6.99 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Regulation of insulin secretion | R-HSA-422356 | 6.66 |
| Integration of energy metabolism | R-HSA-163685 | 6.24 |
| Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels | R-HSA-112308 | 9.28 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Neuronal System | R-HSA-112316 | 4.82 |
| Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation channel activity | GO:0005261 | 4.04 |
| calcium channel activity | GO:0005262 | 5.03 |
| high voltage-gated calcium channel activity | GO:0008331 | 7.34 |
| binding | GO:0005488 | 0.18 |
| divalent inorganic cation transmembrane transporter activity | GO:0072509 | 4.62 |
| calcium ion transmembrane transporter activity | GO:0015085 | 4.89 |
| SNARE binding | GO:0000149 | 4.87 |
| ion binding | GO:0043167 | 1.36 |
| calcium ion binding | GO:0005509 | 3.17 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
| metal ion binding | GO:0046872 | 1.41 |
| voltage-gated cation channel activity | GO:0022843 | 4.83 |
| cation binding | GO:0043169 | 1.4 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| syntaxin binding | GO:0019905 | 5.19 |
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| voltage-gated ion channel activity | GO:0005244 | 4.49 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| voltage-gated channel activity | GO:0022832 | 4.49 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| channel activity | GO:0015267 | 3.6 |
| gated channel activity | GO:0022836 | 3.96 |
| protein binding | GO:0005515 | 0.46 |
| voltage-gated calcium channel activity | GO:0005245 | 6.0 |
| substrate-specific channel activity | GO:0022838 | 3.67 |