| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases |
|---|---|---|---|---|---|---|---|
| LMNA | P02545 | lamin A/C | 1.00 | 0.406 | 0.724 | 509 | |
| KRAS | P01116 | KRAS proto-oncogene, GTPase | enzyme modulator | 9.0E-04 | 0.350 | 0.724 | 374 |
| FLNA | P21333 | filamin A | 1.00 | 0.456 | 0.793 | 373 | |
| BRAF | P15056 | B-Raf proto-oncogene, serine/threonine kinase | 1.00 | 0.352 | 0.793 | 350 | |
| FGFR1 | P11362 | fibroblast growth factor receptor 1 | 1.00 | 0.388 | 0.759 | 329 | |
| GJA1 | P17302 | gap junction protein alpha 1 | cell junction protein | 0.14 | 0.431 | 0.793 | 251 |
| PIK3CA | P42336 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | kinase; transferase | 1.00 | 0.341 | 0.897 | 251 |
| HRAS | P01112 | HRas proto-oncogene, GTPase | enzyme modulator | 8.7E-02 | 0.404 | 0.828 | 238 |
| ZMPSTE24 | O75844 | zinc metallopeptidase STE24 | hydrolase; protease | 1.4E-15 | 0.527 | 0.690 | 233 |
| PEX1 | O43933 | peroxisomal biogenesis factor 1 | 3.3E-14 | 0.554 | 0.655 | 231 | |
| EP300 | Q09472 | E1A binding protein p300 | nucleic acid binding; transcription factor; transferase | 1.00 | 0.489 | 0.828 | 215 |
| ERCC6 | P0DP91 Q03468 | ERCC excision repair 6, chromatin remodeling factor | 8.1E-22 | 0.507 | 0.690 | 211 | |
| PEX5 | P50542 | peroxisomal biogenesis factor 5 | membrane traffic protein; receptor | 1.1E-04 | 0.555 | 0.690 | 206 |
| POLG | P54098 | DNA polymerase gamma, catalytic subunit | nucleic acid binding; transferase | 1.3E-09 | 0.477 | 0.724 | 205 |
| CREBBP | Q92793 | CREB binding protein | nucleic acid binding; transcription factor; transferase | 1.00 | 0.451 | 0.862 | 204 |
| GBA | P04062 | glucosylceramidase beta | 5.6E-06 | 0.521 | 0.724 | 202 | |
| MECP2 | P51608 | methyl-CpG binding protein 2 | nucleic acid binding; transferase | 0.78 | 0.463 | 0.862 | 202 |
| PEX2 | P28328 | peroxisomal biogenesis factor 2 | 2.8E-04 | 0.575 | 0.621 | 185 | |
| GNAS | O95467 P63092 P84996 Q5JWF2 | GNAS complex locus | enzyme modulator | 0.71 | 0.443 | 0.793 | 184 |
| RNU4ATAC | RNA, U4atac small nuclear (U12-dependent splicing) | 0.577 | 0.655 | 184 | |||
| ERCC2 | P18074 | ERCC excision repair 2, TFIIH core complex helicase subunit | nucleic acid binding | 1.7E-20 | 0.447 | 0.828 | 179 |
| PIEZO2 | Q9H5I5 | piezo type mechanosensitive ion channel component 2 | 2.3E-06 | 0.573 | 0.655 | 179 | |
| PEX6 | Q13608 | peroxisomal biogenesis factor 6 | 3.7E-05 | 0.562 | 0.655 | 176 | |
| CHD7 | Q9P2D1 | chromodomain helicase DNA binding protein 7 | 1.00 | 0.504 | 0.724 | 175 |