Disease Description

UMLS CUIC0026848
UMLS TermMyopathy
MeSH ID D009135
MeSH TermMuscular Diseases
Disease Classes

Musculoskeletal Diseases

Nervous System Diseases

Gene SymbolDescriptionEntrez IDUniprot IDChromosomal Location

ALB

albumin

213

P02768

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

CTSB

cathepsin B

1508

P07858

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

EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4

440275

Q9P2K8

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

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

MAOA

monoamine oxidase A

4128

P21397

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

MEGF10

multiple EGF-like-domains 10

84466

Q96KG7

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

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

SMAD4

SMAD family member 4

4089

Q13485

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

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