| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| MECP2 | P51608 | methyl-CpG binding protein 2 | Epigenetic regulator | 0.89 | 0.414 | 0.846 | 150 | 336 |
| FBN1 | P35555 | fibrillin 1 | Calcium-binding protein | 1.00 | 0.417 | 0.846 | 137 | 1044 |
| MAGEL2 | Q9UJ55 | MAGE family member L2 | Cell adhesion | 0.98 | 0.560 | 0.654 | 91 | 14 |
| COL2A1 | P02458 | collagen type II alpha 1 chain | 1.00 | 0.444 | 0.846 | 78 | 76 | |
| ANKRD11 | Q6UB99 | ankyrin repeat domain 11 | 1.00 | 0.556 | 0.808 | 63 | 59 | |
| UNC80 | Q8N2C7 | unc-80 homolog, NALCN channel complex subunit | 5.2E-02 | 0.626 | 0.462 | 63 | 15 | |
| ZEB2 | O60315 | zinc finger E-box binding homeobox 2 | Transcription factor | 1.00 | 0.471 | 0.808 | 36 | 96 |
| ABCC8 | Q09428 | ATP binding cassette subfamily C member 8 | Transporter | 8.0E-24 | 0.474 | 0.846 | 32 | 164 |
| NALCN | Q8IZF0 | sodium leak channel, non-selective | Ion channel | 8.5E-14 | 0.587 | 0.615 | 14 | 28 |
| LBR | Q14739 | lamin B receptor | Enzyme | 0.18 | 0.473 | 0.808 | 12 | 11 |
| TRIO | O75962 | trio Rho guanine nucleotide exchange factor | Kinase | 1.00 | 0.556 | 0.731 | 10 | 12 |