| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| TTN | Q8WZ42 | titin | Kinase | 2.6E-96 | 0.470 | 0.885 | 78 | 577 |
| TTN-AS1 | TTN antisense RNA 1 | 0.599 | 0.577 | 78 | 567 | |||
| LMNA | P02545 | lamin A/C | 1.00 | 0.384 | 0.885 | 46 | 196 | |
| PMM2 | O15305 | phosphomannomutase 2 | Enzyme | 1.4E-17 | 0.535 | 0.769 | 43 | 64 |
| FKRP | Q9H9S5 | fukutin related protein | 9.8E-06 | 0.513 | 0.731 | 36 | 56 | |
| DMD | P11532 | dystrophin | 1.00 | 0.423 | 0.923 | 35 | 305 | |
| CAPN3 | P20807 | calpain 3 | Enzyme | 3.6E-19 | 0.564 | 0.615 | 34 | 144 |
| COL6A2 | P12110 | collagen type VI alpha 2 chain | Receptor | 6.5E-08 | 0.599 | 0.692 | 23 | 51 |
| HSPB8 | Q9UJY1 | heat shock protein family B (small) member 8 | 4.3E-02 | 0.570 | 0.577 | 22 | 5 | |
| SYNE1 | Q8NF91 | spectrin repeat containing nuclear envelope protein 1 | 3.2E-52 | 0.511 | 0.846 | 21 | 38 | |
| PYROXD1 | Q8WU10 | pyridine nucleotide-disulphide oxidoreductase domain 1 | Enzyme | 6.3E-09 | 0.769 | 0.269 | 21 | 5 |
| LAMA2 | P24043 | laminin subunit alpha 2 | Enzyme modulator | 2.4E-47 | 0.553 | 0.692 | 19 | 116 |
| DYSF | O75923 | dysferlin | Transporter | 3.7E-33 | 0.582 | 0.692 | 18 | 166 |
| ANO5 | Q75V66 | anoctamin 5 | 2.9E-22 | 0.619 | 0.538 | 13 | 42 | |
| GMPPB | Q9Y5P6 | GDP-mannose pyrophosphorylase B | 8.4E-07 | 0.578 | 0.538 | 12 | 18 | |
| NEB | P20929 | nebulin | 4.6E-41 | 0.608 | 0.692 | 9 | 271 | |
| DOK7 | Q18PE1 | docking protein 7 | 1.0E-04 | 0.615 | 0.615 | 7 | 23 | |
| TNPO3 | Q9Y5L0 | transportin 3 | Transporter | 1.8E-06 | 0.663 | 0.577 | 7 | 4 |
| POMT2 | Q9UKY4 | protein O-mannosyltransferase 2 | 9.4E-12 | 0.544 | 0.615 | 6 | 27 | |
| RIF1 | Q5UIP0 | replication timing regulatory factor 1 | 1.00 | 0.700 | 0.462 | 5 | 105 | |
| SGCA | Q16586 | sarcoglycan alpha | Calcium-binding protein | 2.7E-03 | 0.592 | 0.654 | 5 | 48 |