X-Linked Centronuclear Myopathy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0410203
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Genes

29 genes associated with the disease X-Linked 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
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
BIN1 bridging integrator 1
CCDC78 coiled-coil domain containing 78
CMTM1 CKLF-like MARVEL transmembrane domain containing 1
DES desmin
DNM2 dynamin 2
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3
IDS iduronate 2-sulfatase
MAMLD1 mastermind-like domain containing 1
MBNL1 muscleblind-like splicing regulator 1
MTM1 myotubularin 1
MTMR1 myotubularin related protein 1
MTMR12 myotubularin related protein 12
MTMR14 myotubularin related protein 14
MTMR2 myotubularin related protein 2
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NEFL neurofilament, light polypeptide
ORAI1 ORAI calcium release-activated calcium modulator 1
PTPRU protein tyrosine phosphatase, receptor type, U
REG1A regenerating islet-derived 1 alpha
RYR1 ryanodine receptor 1 (skeletal)
SELENON selenoprotein N
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
STIM1 stromal interaction molecule 1
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
VIM vimentin