Facioscapulohumeral muscular dystrophy
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Muscular Dystrophy, Facioscapulohumeral | C0238288 | ACAN | 12868502 |
| CDKN1A | 12868502 | ||
| COL3A1 | 12868502 | ||
| DCN | 12868502 | ||
| ELN | 12868502 | ||
| FRG1 | 23720823, 23525014, 23300487 | ||
| GSTT2 | 12868502 | ||
| HSPA1B | 12868502 | ||
| HSPA4 | 12868502 | ||
| LUM | 12868502 | ||
| DUX4L1 | |||
| SMCHD1 | 23143600, 24128691, 24075187 | ||
| DUX4 | 22796148 | ||
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B | C1834671 | DNMT3B | 27153398 |
| SMCHD1 | 23143600, 29748383, 28067909, 28067911, 25370034, 25256356, 27059856, 24075187, 24128691 | ||
| Facioscapulohumeral muscular dystrophy 1a | C1834673 | FRG1 | |
| DUX4 | 27672539 |