Disease Description

UMLS CUI C0026848
UMLS Term Myopathy
MeSH ID D009135
MeSH Term Muscular Diseases
Disease Classes

Musculoskeletal Diseases

Nervous System Diseases

Gene Symbol Description Entrez ID Uniprot ID Chromosomal Location

CTSB

cathepsin B

1508

P07858

chr8: 11,842,524-11,869,448

ALB

albumin

213

P02768

chr4: 73,397,114-73,421,412

FABP3

fatty acid binding protein 3, muscle and heart

2170

P05413

chr1: 31,365,625-31,376,850

HINT1

histidine triad nucleotide binding protein 1

3094

P49773

chr5: 131,159,027-131,171,735

HMGCR

3-hydroxy-3-methylglutaryl-CoA reductase

3156

P04035

chr5: 75,336,329-75,362,104

HTR7

5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled

3363

P34969

chr10: 90,740,823-90,857,698

IL1B

interleukin 1 beta

3553

P01584

chr2: 112,829,751-112,836,903

INS

insulin

3630

P01308

chr11: 2,159,779-2,161,341

SMAD4

SMAD family member 4

4089

Q13485

chr18: 51,028,394-51,085,045

MAOA

monoamine oxidase A

4128

P21397

chrX: 43,654,907-43,746,824

EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4

440275

Q9P2K8

chr15: 39,934,146-40,035,591

PPARA

peroxisome proliferator-activated receptor alpha

5465

Q07869

chr22: 46,150,521-46,243,756

PYGM

phosphorylase, glycogen, muscle

5837

P11217

chr11: 64,746,389-64,760,297

TGFB1

transforming growth factor beta 1

7040

P01137

chr19: 41,301,587-41,353,911

TTN

titin

7273

Q8WZ42

chr2: 178,525,989-178,830,802

MEGF10

multiple EGF-like-domains 10

84466

Q96KG7

chr5: 127,290,831-127,465,737