| 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 | |||
| DYNC1H1 | Q14204 | dynein cytoplasmic 1 heavy chain 1 | Enzyme | 1.00 | 0.547 | 0.769 | 61 | 35 |
| PSEN1 | P49768 | presenilin 1 | Enzyme | 0.97 | 0.469 | 0.846 | 41 | 49 |
| IGHMBP2 | P38935 | immunoglobulin mu DNA binding protein 2 | 3.0E-16 | 0.636 | 0.615 | 39 | 49 | |
| ALDH18A1 | P54886 | aldehyde dehydrogenase 18 family member A1 | Enzyme | 8.1E-04 | 0.551 | 0.769 | 39 | 17 |
| DMD | P11532 | dystrophin | 1.00 | 0.423 | 0.923 | 35 | 305 | |
| GBA | P04062 | glucosylceramidase beta | 1.4E-06 | 0.500 | 0.808 | 33 | 79 | |
| TRPV4 | Q9HBA0 | transient receptor potential cation channel subfamily V member 4 | Ion channel | 2.2E-16 | 0.457 | 0.808 | 30 | 51 |
| PKD1 | P98161 | polycystin 1, transient receptor potential channel interacting | 1.00 | 0.493 | 0.769 | 27 | 139 | |
| SPAST | Q9UBP0 | spastin | Cellular structure | 1.00 | 0.579 | 0.577 | 24 | 96 |
| HSPB8 | Q9UJY1 | heat shock protein family B (small) member 8 | 4.3E-02 | 0.570 | 0.577 | 22 | 5 | |
| ANO5 | Q75V66 | anoctamin 5 | 2.9E-22 | 0.619 | 0.538 | 13 | 42 | |
| HSPB1 | P04792 | heat shock protein family B (small) member 1 | 2.8E-07 | 0.436 | 0.808 | 7 | 23 | |
| PFN1 | P07737 | profilin 1 | 0.73 | 0.565 | 0.769 | 2 | 4 |