Disease Description

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