| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| CLCN1 | P35523 | chloride voltage-gated channel 1 | Ion channel | 3.3E-20 | 0.641 | 0.423 | 23 | 67 |
| GNE | Q9Y223 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Enzyme | 2.5E-16 | 0.610 | 0.692 | 4 | 70 |
| CLTA | P09496 | clathrin light chain A | Transporter | 0.96 | 0.628 | 0.654 | 4 | 70 |
| ACADVL | P49748 | acyl-CoA dehydrogenase very long chain | Enzyme | 4.2E-15 | 0.653 | 0.654 | 5 | 109 |
| RYR1 | P21817 | ryanodine receptor 1 | Ion channel | 1.6E-29 | 0.489 | 0.808 | 34 | 121 |
| MTM1 | Q13496 | myotubularin 1 | Enzyme | 1.00 | 0.573 | 0.731 | 16 | 138 |
| CAPN3 | P20807 | calpain 3 | Enzyme | 3.6E-19 | 0.564 | 0.615 | 34 | 144 |
| GAA | P10253 | glucosidase alpha, acid | Enzyme | 2.8E-18 | 0.631 | 0.577 | 18 | 171 |
| MYH7 | P12883 | myosin heavy chain 7 | 4.2E-16 | 0.516 | 0.692 | 38 | 249 | |
| DMD | P11532 | dystrophin | 1.00 | 0.423 | 0.923 | 35 | 305 | |
| TTN-AS1 | TTN antisense RNA 1 | 0.599 | 0.577 | 78 | 567 | |||
| TTN | Q8WZ42 | titin | Kinase | 2.6E-96 | 0.470 | 0.885 | 78 | 577 |