| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| PTPN11 | Q06124 | protein tyrosine phosphatase non-receptor type 11 | 1.00 | 0.385 | 0.923 | 153 | 73 | |
| FBN1 | P35555 | fibrillin 1 | Calcium-binding protein | 1.00 | 0.417 | 0.846 | 137 | 1044 |
| CHD7 | Q9P2D1 | chromodomain helicase DNA binding protein 7 | 1.00 | 0.441 | 0.846 | 77 | 192 | |
| TMEM94 | Q12767 | transmembrane protein 94 | 2.8E-14 | 0.628 | 0.654 | 73 | 2 | |
| ANKRD11 | Q6UB99 | ankyrin repeat domain 11 | 1.00 | 0.556 | 0.808 | 63 | 59 | |
| FREM2 | Q5SZK8 | FRAS1 related extracellular matrix 2 | 3.6E-11 | 0.566 | 0.577 | 23 | 12 | |
| ITPR1 | Q14643 | inositol 1,4,5-trisphosphate receptor type 1 | Ion channel | 1.00 | 0.534 | 0.846 | 18 | 24 |
| BBS12 | Q6ZW61 | Bardet-Biedl syndrome 12 | 2.3E-07 | 0.674 | 0.462 | 13 | 38 | |
| SMG9 | Q9H0W8 | SMG9 nonsense mediated mRNA decay factor | 3.5E-13 | 0.729 | 0.346 | 5 | 2 |