| Disease ID | Disease name | Source of annotation with TRPC3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 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 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Elevation of cytosolic Ca2+ levels | R-HSA-139853 | 9.81 |
| TRP channels | R-HSA-3295583 | 8.18 |
| Gastrin-CREB signalling pathway via PKC and MAPK | R-HSA-881907 | 4.26 |
| Role of second messengers in netrin-1 signaling | R-HSA-418890 | 9.66 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| Ion channel transport | R-HSA-983712 | 5.34 |
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| Platelet calcium homeostasis | R-HSA-418360 | 8.73 |
| Effects of PIP2 hydrolysis | R-HSA-114508 | 8.34 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| G alpha (q) signalling events | R-HSA-416476 | 5.42 |
| Platelet homeostasis | R-HSA-418346 | 6.68 |
| Stimuli-sensing channels | R-HSA-2672351 | 6.28 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Axon guidance | R-HSA-422475 | 3.93 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Netrin-1 signaling | R-HSA-373752 | 7.59 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation channel activity | GO:0005261 | 4.04 |
| calcium channel activity | GO:0005262 | 5.03 |
| binding | GO:0005488 | 0.18 |
| calcium ion transmembrane transporter activity | GO:0015085 | 4.89 |
| store-operated calcium channel activity | GO:0015279 | 7.34 |
| divalent inorganic cation transmembrane transporter activity | GO:0072509 | 4.62 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| small molecule binding | GO:0036094 | 1.89 |
| 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 |
| alcohol binding | GO:0043178 | 5.53 |
| inositol 1,4,5 trisphosphate binding | GO:0070679 | 7.54 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| channel activity | GO:0015267 | 3.6 |
| protein binding | GO:0005515 | 0.46 |
| substrate-specific channel activity | GO:0022838 | 3.67 |