Source: CLINVAR ×
| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
|---|---|---|---|---|---|---|
| COL7A1 | Q02388 | collagen type VII alpha 1 chain | Receptor | 2.4E-40 | 0.545 | 0.808 |
| DYRK1A | Q13627 | dual specificity tyrosine phosphorylation regulated kinase 1A | Kinase | 1.00 | 0.533 | 0.769 |
| EHMT1 | Q9H9B1 | euchromatic histone lysine methyltransferase 1 | Epigenetic regulator | 1.00 | 0.460 | 0.808 |
| ERCC8 | Q13216 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 2.8E-15 | 0.551 | 0.885 | |
| FOXG1 | P55316 | forkhead box G1 | 0.94 | 0.522 | 0.692 | |
| KMT2B | Q9UMN6 | lysine methyltransferase 2B | 1.00 | 0.529 | 0.808 | |
| MFN2 | O95140 | mitofusin 2 | Enzyme | 0.99 | 0.471 | 0.846 |
| MIPEP | Q99797 | mitochondrial intermediate peptidase | Enzyme | 1.6E-15 | 0.666 | 0.615 |
| PEX6 | Q13608 | peroxisomal biogenesis factor 6 | 6.3E-06 | 0.547 | 0.731 | |
| PTCH1 | Q13635 | patched 1 | 1.00 | 0.398 | 0.885 | |
| PTPN11 | Q06124 | protein tyrosine phosphatase non-receptor type 11 | 1.00 | 0.385 | 0.923 | |
| ROGDI | Q9GZN7 | rogdi atypical leucine zipper | 2.6E-09 | 0.663 | 0.462 | |
| SMARCAL1 | Q9NZC9 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 | 2.3E-06 | 0.599 | 0.654 |