Pena-shokeir syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| PENA SHOKEIR SYNDROME, TYPE 1 | MUSK | Unknown | — | CTD | — | |
| 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 | — |