| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| ASAH1 | Q13510 | N-acylsphingosine amidohydrolase 1 | Enzyme | 1.3E-12 | 0.526 | 0.808 | 9 | 13 |
| COL11A2 | P13942 | collagen type XI alpha 2 chain | 0.70 | 0.435 | 0.846 | 8 | 16 | |
| PAX3 | P23760 | paired box 3 | 0.24 | 0.481 | 0.769 | 7 | 46 | |
| TECTA | O75443 | tectorin alpha | 3.0E-16 | 0.700 | 0.385 | 7 | 16 | |
| STRC | Q7RTU9 | stereocilin | Extracellular structure | 1.8E-15 | 0.700 | 0.192 | 7 | 12 |
| CKMT1B | P12532 | creatine kinase, mitochondrial 1B | Kinase | 3.2E-05 | 0.729 | 0.346 | 7 | 9 |
| MYO15A | Q9UKN7 | myosin XVA | Cellular structure | 1.3E-56 | 0.722 | 0.346 | 6 | 72 |
| AQP4-AS1 | AQP4 antisense RNA 1 | 0.751 | 0.577 | 6 | 1 | |||
| AQP4 | P55087 | aquaporin 4 | Ion channel | 2.3E-03 | 0.456 | 0.885 | 6 | 1 |
| GIPC3 | Q8TF64 | GIPC PDZ domain containing family member 3 | Enzyme | 9.3E-03 | 0.780 | 0.231 | 3 | 7 |
| CEP78 | Q5JTW2 | centrosomal protein 78 | 6.2E-12 | 0.686 | 0.346 | 3 | 7 | |
| CDC14A | Q9UNH5 | cell division cycle 14A | 9.6E-08 | 0.736 | 0.385 | 2 | 5 | |
| LMX1A | Q8TE12 | LIM homeobox transcription factor 1 alpha | Nucleic acid binding | 0.99 | 0.670 | 0.423 | 1 | 1 |
| PRKCB | P05771 | protein kinase C beta | Kinase | 1.00 | 0.453 | 0.885 | 1 | 1 |