Centronuclear Myopathy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. (Human Disease Ontology, DOID_14717)
External Link https://www.disgenet.org/browser/0/1/0/C0175709
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Genes

39 genes associated with the disease Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
AMPH amphiphysin
BIN1 bridging integrator 1
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAMKMT calmodulin-lysine N-methyltransferase
CCDC78 coiled-coil domain containing 78
CCNT2 cyclin T2
CHAT choline O-acetyltransferase
CNBP CCHC-type zinc finger, nucleic acid binding protein
DES desmin
DMPK dystrophia myotonica-protein kinase
DNM2 dynamin 2
ECEL1 endothelin converting enzyme-like 1
GMPPB GDP-mannose pyrophosphorylase B
HACD1 3-hydroxyacyl-CoA dehydratase 1
KLHL31 kelch-like family member 31
KRIT1 KRIT1, ankyrin repeat containing
MIP major intrinsic protein of lens fiber
MTM1 myotubularin 1
MTMR12 myotubularin related protein 12
MTMR14 myotubularin related protein 14
MTMR2 myotubularin related protein 2
MYH7 myosin, heavy chain 7, cardiac muscle, beta
ORAI1 ORAI calcium release-activated calcium modulator 1
PLEK pleckstrin
RYR1 ryanodine receptor 1 (skeletal)
SELENON selenoprotein N
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SPEG SPEG complex locus
STIM1 stromal interaction molecule 1
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TTN titin
VIM vimentin
WASL Wiskott-Aldrich syndrome-like