Myopathy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A muscular disease in which the muscle fibers do not function resulting in muscular weakness. (Experimental Factor Ontology, EFO_0004145)
External Link https://www.disgenet.org/browser/0/1/0/C1832370
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Genes

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

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ADSSL1 adenylosuccinate synthase like 1
ALB albumin
AMPD1 adenosine monophosphate deaminase 1
AMPH amphiphysin
AOC2 amine oxidase, copper containing 2 (retina-specific)
AOC3 amine oxidase, copper containing 3
ATF2 activating transcription factor 2
B2M beta-2-microglobulin
BAG3 BCL2-associated athanogene 3
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BIN1 bridging integrator 1
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
CAV3 caveolin 3
CCDC78 coiled-coil domain containing 78
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CLN3 ceroid-lipofuscinosis, neuronal 3
CNTN1 contactin 1
CRYAB crystallin, alpha B
DES desmin
DMD dystrophin
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNM2 dynamin 2
DYSF dysferlin
EMD emerin
EPHB1 EPH receptor B1
ETFDH electron-transferring-flavoprotein dehydrogenase
FHL1 four and a half LIM domains 1
FLAD1 flavin adenine dinucleotide synthetase 1
FLNC filamin C, gamma
GFAP glial fibrillary acidic protein
GFER growth factor, augmenter of liver regeneration
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GRHL3 grainyhead-like 3 (Drosophila)
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
INA internexin neuronal intermediate filament protein, alpha
IRF6 interferon regulatory factor 6
ISCU iron-sulfur cluster assembly enzyme
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIF1B kinesin family member 1B
KLK7 kallikrein-related peptidase 7
KY kyphoscoliosis peptidase
LAMP2 lysosomal-associated membrane protein 2
LDB3 LIM domain binding 3
MAD2L1BP MAD2L1 binding protein
MAP3K20 mitogen-activated protein kinase kinase kinase 20
MATR3 matrin 3
MEGF10 multiple EGF-like-domains 10
MICU1 mitochondrial calcium uptake 1
MSTO1 misato 1, mitochondrial distribution and morphology regulator
MT-ATP6 ATP synthase F0 subunit 6
MTM1 myotubularin 1
MTMR14 myotubularin related protein 14
MYF6 myogenic factor 6 (herculin)
MYH14 myosin, heavy chain 14, non-muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
ORAI1 ORAI calcium release-activated calcium modulator 1
PNPLA2 patatin-like phospholipase domain containing 2
PTBP1 polypyrimidine tract binding protein 1
PUS1 pseudouridylate synthase 1
PYGM phosphorylase, glycogen, muscle
PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1
RBM45 RNA binding motif protein 45
REST RE1-silencing transcription factor
RYR1 ryanodine receptor 1 (skeletal)
SARDH sarcosine dehydrogenase
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDS serine dehydratase
SELENON selenoprotein N
SORD sorbitol dehydrogenase
SPEG SPEG complex locus
SQSTM1 sequestosome 1
SRSF3 serine/arginine-rich splicing factor 3
SSUH2 ssu-2 homolog (C. elegans)
STAC3 SH3 and cysteine rich domain 3
STIM1 stromal interaction molecule 1
TARDBP TAR DNA binding protein
TARS threonyl-tRNA synthetase
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TARSL2 threonyl-tRNA synthetase-like 2
TMEM8C transmembrane protein 8C
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TOR1AIP1 torsin A interacting protein 1
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32
TRIM54 tripartite motif containing 54
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TTN titin
UBB ubiquitin B
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCP valosin containing protein
VDAC1 voltage-dependent anion channel 1
VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial