generalized muscle weakness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. (Human Phenotype Ontology, HP_0003324)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003324
Similar Terms
Downloads & Tools

Genes

30 genes associated with the generalized muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ACTA1 actin, alpha 1, skeletal muscle
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLCNKB chloride channel, voltage-sensitive Kb
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
DSE dermatan sulfate epimerase
FGF23 fibroblast growth factor 23
FKRP fukutin related protein
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
MTM1 myotubularin 1
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NEB nebulin
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEC plectin
POLG polymerase (DNA directed), gamma
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT2 protein-O-mannosyltransferase 2
PTRF polymerase I and transcript release factor
RYR1 ryanodine receptor 1 (skeletal)
SEPN1 selenoprotein N, 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
TPM3 tropomyosin 3
TTN titin