muscle cramps Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Sudden and involuntary contractions of one or more muscles. (Human Phenotype Ontology, HP_0003394)
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42 genes associated with the muscle cramps phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AMPD1 adenosine monophosphate deaminase 1
AR androgen receptor
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATXN3 ataxin 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CASR calcium-sensing receptor
CAV3 caveolin 3
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
COL4A1 collagen, type IV, alpha 1
CPT2 carnitine palmitoyltransferase 2
DNA2 DNA replication helicase/nuclease 2
DOK7 docking protein 7
FBXO38 F-box protein 38
FKRP fukutin related protein
GARS glycyl-tRNA synthetase
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GLA galactosidase, alpha
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
HINT1 histidine triad nucleotide binding protein 1
HSPB1 heat shock 27kDa protein 1
ISCU iron-sulfur cluster assembly enzyme
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
LAMP2 lysosomal-associated membrane protein 2
LDHA lactate dehydrogenase A
MPZ myelin protein zero
MUSK muscle, skeletal, receptor tyrosine kinase
MYF6 myogenic factor 6 (herculin)
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGK1 phosphoglycerate kinase 1
PMP22 peripheral myelin protein 22
PYGM phosphorylase, glycogen, muscle
RAPSN receptor-associated protein of the synapse
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SMN1 survival of motor neuron 1, telomeric
SOD1 superoxide dismutase 1, soluble
STIM1 stromal interaction molecule 1
TRAPPC11 trafficking protein particle complex 11
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C