limb-girdle muscle weakness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. (Human Phenotype Ontology, HP_0003325)
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21 genes associated with the limb-girdle muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANO5 anoctamin 5
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CRYAB crystallin, alpha B
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DNA2 DNA replication helicase/nuclease 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
FKRP fukutin related protein
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
LMNA lamin A/C
MATR3 matrin 3
MYOT myotilin
POMT1 protein-O-mannosyltransferase 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
TNPO3 transportin 3
TRIM32 tripartite motif containing 32
VCP valosin containing protein