| Disease ID | Disease name | Source of annotation with CACNA1S | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 188580 | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 | ClinVar, OMIM | link to OMIM | 2 | KCNJ18, CACNA1S |
| PS145600 | MALIGNANT HYPERTHERMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | RYR1, CACNA1S |
| 170400 | HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | CACNA1S, SCN4A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Alzheimer's disease | hsa05010 | 5.34 |
| cGMP-PKG signaling pathway | hsa04022 | 5.32 |
| Dilated cardiomyopathy | hsa05414 | 6.08 |
| Calcium signaling pathway | hsa04020 | 5.22 |
| MAPK signaling pathway | hsa04010 | 4.63 |
| cAMP signaling pathway | hsa04024 | 5.05 |
| GnRH signaling pathway | hsa04912 | 6.18 |
| Retrograde endocannabinoid signaling | hsa04723 | 6.03 |
| Insulin secretion | hsa04911 | 6.18 |
| Cholinergic synapse | hsa04725 | 5.88 |
| GABAergic synapse | hsa04727 | 6.24 |
| Serotonergic synapse | hsa04726 | 5.84 |
| Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
| Cardiac muscle contraction | hsa04260 | 6.34 |
| Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 |
| Oxytocin signaling pathway | hsa04921 | 5.4 |
| Vascular smooth muscle contraction | hsa04270 | 5.74 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 |
| Axon guidance | R-HSA-422475 | 3.93 |
| NCAM1 interactions | R-HSA-419037 | 7.59 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| GO term | GO ID | GO IC |
|---|---|---|
| substrate-specific channel activity | GO:0022838 | 3.67 |
| 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 |
| ion binding | GO:0043167 | 1.36 |
| calcium ion transmembrane transporter activity | GO:0015085 | 4.89 |
| divalent inorganic cation transmembrane transporter activity | GO:0072509 | 4.62 |
| voltage-gated cation channel activity | GO:0022843 | 4.83 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
| metal ion binding | GO:0046872 | 1.41 |
| 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 |
| 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 |
| 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 |
| voltage-gated ion channel activity | GO:0005244 | 4.49 |