| 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 | |||
| TMEM94 | Q12767 | transmembrane protein 94 | 2.8E-14 | 0.628 | 0.654 | 73 | 2 | |
| PEX6 | Q13608 | peroxisomal biogenesis factor 6 | 6.3E-06 | 0.547 | 0.731 | 69 | 51 | |
| RPS6KA3 | P51812 | ribosomal protein S6 kinase A3 | Kinase | 1.00 | 0.491 | 0.846 | 45 | 34 |
| ABCD1 | P33897 | ATP binding cassette subfamily D member 1 | Transporter | 1.00 | 0.563 | 0.731 | 37 | 82 |
| GBA | P04062 | glucosylceramidase beta | 1.4E-06 | 0.500 | 0.808 | 33 | 79 | |
| PIEZO2 | Q9H5I5 | piezo type mechanosensitive ion channel component 2 | Ion channel | 8.1E-07 | 0.529 | 0.769 | 30 | 26 |
| FBN2 | P35556 | fibrillin 2 | Calcium-binding protein | 1.00 | 0.505 | 0.808 | 27 | 25 |
| PLOD1 | Q02809 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Enzyme | 1.5E-15 | 0.579 | 0.731 | 20 | 14 |
| SOX5 | P35711 | SRY-box transcription factor 5 | 1.00 | 0.545 | 0.769 | 12 | 9 | |
| FKBP14 | Q9NWM8 | FKBP prolyl isomerase 14 | 1.5E-06 | 0.650 | 0.654 | 6 | 5 |