Pena-Shokeir syndrome type I
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| PENA-SHOKEIR SYNDROME TYPE I | ACTA1 | Unknown | — | Disgenet | |
| ADSS1 | Unknown | — | Disgenet | ||
| ALDH5A1 | Unknown | — | Disgenet | ||
| ASAH1 | Unknown | — | Disgenet | ||
| ASCC1 | Unknown | — | Disgenet | ||
| ASPM | Unknown | — | Disgenet | ||
| ATP2B3 | Unknown | — | Disgenet | ||
| AVEN | Unknown | — | Disgenet | ||
| BLTP1 | Unknown | — | Disgenet | ||
| CHRND | Unknown | — | Disgenet | ||
| CHRNG | Unknown | — | Disgenet | ||
| CNTNAP1 | Unknown | — | Disgenet | ||
| DOK7 | Unknown | — | Disgenet | ||
| DQX1 | Unknown | — | Disgenet | ||
| DYNC1H1 | Unknown | — | Disgenet | ||
| EARS2 | Unknown | — | Disgenet | ||
| EXOSC3 | Unknown | — | Disgenet | ||
| FBLN1 | Unknown | — | Disgenet | ||
| FBN2 | Unknown | — | Disgenet | ||
| GBE1 | Unknown | — | Disgenet | ||
| GCN1 | Unknown | — | Disgenet | ||
| GFRA4 | Unknown | — | Disgenet | ||
| GLDN | Unknown | — | Disgenet | ||
| IQSEC3 | Unknown | — | Disgenet | ||
| KIF21A | Unknown | — | Disgenet | ||
| LGI4 | Unknown | — | Disgenet | ||
| MAGEL2 | Unknown | — | Disgenet | ||
| MAGI3 | Unknown | — | Disgenet | ||
| MUSK | Unknown | — | Disgenet | ||
| MYOD1 | Unknown | — | Disgenet | ||
| NAGA | Unknown | — | Disgenet | ||
| NALCN | Unknown | — | Disgenet | ||
| NUP88 | Unknown | — | Disgenet | ||
| PIEZO2 | Unknown | — | Disgenet | ||
| PRG4 | Unknown | — | Disgenet | ||
| PRICKLE1 | Unknown | — | Disgenet | ||
| RAPSN | Unknown | — | Disgenet | ||
| ROR2 | Unknown | — | Disgenet | ||
| RYR1 | Unknown | — | Disgenet | ||
| RYR3 | Unknown | — | Disgenet | ||
| SCN4A | Unknown | — | Disgenet | ||
| SCN5A | Unknown | — | Disgenet | ||
| SCN8A | Unknown | — | Disgenet | ||
| SETBP1 | Unknown | — | Disgenet | ||
| SLC18A3 | Unknown | — | Disgenet | ||
| SPAG16 | Unknown | — | Disgenet | ||
| TMPO | Unknown | — | Disgenet | ||
| TUBA1A | Unknown | — | Disgenet | ||
| UNC50 | Unknown | — | Disgenet | ||
| VPS13D | Unknown | — | Disgenet |