Generalized Limb Muscle Atrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. (Human Phenotype Ontology, HP_0009055)
External Link https://www.disgenet.org/browser/0/1/0/C1838114
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Genes

21 genes associated with the disease Generalized Limb Muscle Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ACTL6B actin-like 6B
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DUX4 double homeobox 4
GMPPB GDP-mannose pyrophosphorylase B
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KLHL41 kelch-like family member 41
LEMD3 LEM domain containing 3
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYPN myopalladin
NEB nebulin
PLP1 proteolipid protein 1
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
PUS1 pseudouridylate synthase 1
SCO2 SCO2 cytochrome c oxidase assembly protein
SCYL1 SCY1-like 1 (S. cerevisiae)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial