| UMLS CUI | C0238288 |
| UMLS Term | Muscular Dystrophy, Facioscapulohumeral |
| MeSH ID | D020391 |
| MeSH Term | Muscular Dystrophy, Facioscapulohumeral |
| Disease Classes |
Musculoskeletal Diseases Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Gene Symbol | Description | Entrez ID | Uniprot ID | Chromosomal Location |
|---|---|---|---|---|
ACAN | aggrecan |
176 | P16112 | chr15: 88,803,443-88,875,354 |
CDKN1A | cyclin-dependent kinase inhibitor 1A (p21, Cip1) |
1026 | P38936 | chr6: 36,676,460-36,687,339 |
COL3A1 | collagen, type III, alpha 1 |
1281 | P02461 | chr2: 188,974,320-189,012,746 |
DCN | decorin |
1634 | P07585 | chr12: 91,140,484-91,183,123 |
GSTT2 | glutathione S-transferase theta 2 (gene/pseudogene) |
2953 | P0CG29 | chr22: 23,980,058-23,983,915 |
HSPA1B | heat shock protein family A (Hsp70) member 1B |
3304 | P0DMV9 | chr6: 31,827,735-31,830,255 |
HSPA4 | heat shock protein family A (Hsp70) member 4 |
3308 | P34932 | chr5: 133,051,962-133,106,449 |
LUM | lumican |
4060 | P51884 | chr12: 91,102,629-91,111,831 |
SMCHD1 | structural maintenance of chromosomes flexible hinge domain containing 1 |
23347 | A6NHR9 | chr18: 2,655,738-2,805,017 |