| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| TRPS1 | Q9UHF7 | transcriptional repressor GATA binding 1 | 1.00 | 0.537 | 0.769 | 71 | 47 | |
| HNRNPK | P61978 | heterogeneous nuclear ribonucleoprotein K | Enzyme | 1.00 | 0.539 | 0.846 | 70 | 13 |
| PLA2G6 | O60733 | phospholipase A2 group VI | Enzyme modulator | 2.5E-10 | 0.476 | 0.846 | 49 | 61 |
| VPS13B | Q7Z7G8 | vacuolar protein sorting 13 homolog B | 2.5E-45 | 0.579 | 0.769 | 27 | 294 | |
| EFL1 | Q7Z2Z2 | elongation factor like GTPase 1 | Enzyme | 5.1E-08 | 0.638 | 0.577 | 19 | 2 |
| DKC1 | O60832 | dyskerin pseudouridine synthase 1 | Nucleic acid binding | 1.00 | 0.547 | 0.769 | 12 | 42 |
| ATP2B3 | Q16720 | ATPase plasma membrane Ca2+ transporting 3 | Transporter | 1.00 | 0.631 | 0.692 | 10 | 5 |