| Disease ID | Disease name | Source of annotation with SEPN1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 255310 | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | ClinVar, OMIM | link to OMIM | 5 | TPM3, RYR1, ACTA1, SEPN1, MYH7 |
| 602771 | RIGID SPINE MUSCULAR DYSTROPHY 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SEPN1 |
Download the gene annotation in CSV format
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| calcium ion binding | GO:0005509 | 3.17 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| metal ion binding | GO:0046872 | 1.41 |
| oxidoreductase activity | GO:0016491 | 3.12 |