| Disease ID | Disease name | Source of annotation with CAV3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 606072 | RIPPLING MUSCLE DISEASE | OMIM, HUMSAVAR | link to OMIM | 1 | CAV3 |
| PS159000 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | HNRNPDL, TNPO3, CAV3, LMNA, MYOT, DNAJB6 |
| 123320 | CREATINE PHOSPHOKINASE, ELEVATED SERUM | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CAV3 |
| 272120 | SUDDEN INFANT DEATH SYNDROME | HUMSAVAR | link to OMIM | 7 | KCNJ8, KCNQ1, CAV3, SCN4B, GPD1L, KCNH2, SCN5A |
| PS192500 | LONG QT SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 16 | ALG10, KCNH2, KCNQ1, KCNJ5, AKAP9, CALM1, CALM2, KCNE1, ANK2, SCN4B, SNTA1, CACNA1C, KCNE2, KCNJ2, SCN5A, CAV3 |
| PS192600 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | CALR3, JPH2, VCL, TNNC1, LDB3, ACTC1, CSRP3, MYLK2, TTN, MYH7, NEXN, MYOZ2, TCAP, ACTN2, TNNT2, MYL2, MYBPC3, PLN, MYH6, TPM1, TNNI3, MYL3, PRKAG2, MYPN, CAV3 |
| 614321 | MYOPATHY, DISTAL, TATEYAMA TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CAV3 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Proteoglycans in cancer | hsa05205 | 5.02 |
| Bacterial invasion of epithelial cells | hsa05100 | 6.34 |
| Endocytosis | hsa04144 | 4.92 |
| Focal adhesion | hsa04510 | 4.92 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Muscle contraction | R-HSA-397014 | 6.96 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein C-terminus binding | GO:0008022 | 4.5 |
| enzyme binding | GO:0019899 | 2.27 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| ion channel binding | GO:0044325 | 5.02 |
| molecular function regulator | GO:0098772 | 2.51 |
| potassium channel inhibitor activity | GO:0019870 | 7.66 |
| structural molecule activity | GO:0005198 | 3.1 |
| channel inhibitor activity | GO:0016248 | 6.13 |
| channel regulator activity | GO:0016247 | 4.88 |
| connexin binding | GO:0071253 | 8.13 |
| tubulin binding | GO:0015631 | 4.1 |
| potassium channel regulator activity | GO:0015459 | 5.93 |
| protein complex binding | GO:0032403 | 3.09 |
| ion channel inhibitor activity | GO:0008200 | 6.15 |
| nitric-oxide synthase binding | GO:0050998 | 6.91 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| sodium channel regulator activity | GO:0017080 | 6.3 |
| protein binding | GO:0005515 | 0.46 |
| alpha-tubulin binding | GO:0043014 | 6.37 |
| calcium channel regulator activity | GO:0005246 | 6.15 |
| protein complex scaffold | GO:0032947 | 5.5 |