Pena shokeir syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Pena Shokeir syndrome Type 2 | C2931277 | ERCC1 | 17273966 |
| ERCC2 | 11443545 | ||
| ERCC5 | 24700531 | ||
| Pena-Shokeir syndrome type I | C1276035 | ACTA1 | |
| CHRNA1 | |||
| CHRND | |||
| CHRNG | |||
| CNTN1 | |||
| GBA | |||
| GBE1 | 21620786 | ||
| GLE1 | |||
| KIF5C | |||
| MUSK | 25537362, 25612909 | ||
| MYOD1 | 26733463 | ||
| NEB | |||
| NUP88 | 30543681 | ||
| RAPSN | 16945936, 21305573, 24319099, 18179903, 25792100, 14504330, 17594401, 25194721, 11791205, 20157724, 12796535, 21228398, 19620612 | ||
| RYR1 | |||
| SLC18A3 | 31059209 | ||
| TPM2 | |||
| TPM3 | |||
| CNTNAP1 | |||
| KLHL41 | |||
| ASCC1 | 28749478 | ||
| MYPN | |||
| NEK9 | |||
| KLHL40 | |||
| LGI4 | |||
| DOK7 | 22661499, 23219351, 19837590, 16917026, 20458068, 21850686, 18165682, 18626973, 21520333, 20012313, 17452375, 23790237, 20554332, 25237101, 19261599, 2261499 | ||
| KBTBD13 |