limb-girdle muscular dystrophy Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. (Human Disease Ontology, DOID_11724)
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24 genes involed in the disease limb-girdle muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ANO5 anoctamin 5
CAPN3 calpain 3, (p94)
CAV3 caveolin 3
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DES desmin
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DYSF dysferlin
FKRP fukutin related protein
FKTN fukutin
GMPPB GDP-mannose pyrophosphorylase B
LMNA lamin A/C
MYOT myotilin
PLEC plectin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
TCAP titin-cap
TRAPPC11 trafficking protein particle complex 11
TRIM32 tripartite motif containing 32
TTN titin