| 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 |
|---|---|---|---|---|
|
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 |
|
ACAN |
aggrecan |
176 |
P16112 |
chr15: 88,803,443-88,875,354 |
|
SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
23347 |
A6NHR9 |
chr18: 2,655,738-2,805,017 |
|
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 |