myopathy Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description A muscular disease in which the muscle fibers do not function resulting in muscular weakness. (Experimental Factor Ontology, EFO_0004145)
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129 genes co-occuring with the biological term myopathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACHE acetylcholinesterase (Yt blood group)
ACTA1 actin, alpha 1, skeletal muscle
ACTC1 actin, alpha, cardiac muscle 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ANO5 anoctamin 5
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BAG3 BCL2-associated athanogene 3
BIN1 bridging integrator 1
C10ORF2 chromosome 10 open reading frame 2
CAPN1 calpain 1, (mu/I) large subunit
CAV3 caveolin 3
CCDC78 coiled-coil domain containing 78
CFL2 cofilin 2 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLN3 ceroid-lipofuscinosis, neuronal 3
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNTN1 contactin 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
CRYAB crystallin, alpha B
CRYBA2 crystallin, beta A2
CXCL10 chemokine (C-X-C motif) ligand 10
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
DES desmin
DMPK dystrophia myotonica-protein kinase
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNM2 dynamin 2
DNM3 dynamin 3
DYSF dysferlin
ETFDH electron-transferring-flavoprotein dehydrogenase
EYS eyes shut homolog (Drosophila)
FAM111B family with sequence similarity 111, member B
FDX1L ferredoxin 1-like
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FKTN fukutin
FLNC filamin C, gamma
GFER growth factor, augmenter of liver regeneration
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
HRAS Harvey rat sarcoma viral oncogene homolog
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPG2 heparan sulfate proteoglycan 2
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IL1B interleukin 1, beta
ISCU iron-sulfur cluster assembly enzyme
ITGA7 integrin, alpha 7
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KLHL40 kelch-like family member 40
KLHL9 kelch-like family member 9
LAMP2 lysosomal-associated membrane protein 2
LMNA lamin A/C
LPIN1 lipin 1
MAMLD1 mastermind-like domain containing 1
MATR3 matrin 3
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MT-CYB cytochrome b
MTM1 myotubularin 1
MTMR14 myotubularin related protein 14
MYH14 myosin, heavy chain 14, non-muscle
MYH2 myosin, heavy chain 2, skeletal muscle, adult
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH7B myosin, heavy chain 7B, cardiac muscle, beta
MYOT myotilin
NCAM1 neural cell adhesion molecule 1
NEB nebulin
NEFL neurofilament, light polypeptide
NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
OBSL1 obscurin-like 1
OPTN optineurin
ORAI1 ORAI calcium release-activated calcium modulator 1
PDCD5 programmed cell death 5
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PNPLA2 patatin-like phospholipase domain containing 2
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKCA protein kinase C, alpha
PRKCH protein kinase C, eta
PRKCZ protein kinase C, zeta
PTBP1 polypyrimidine tract binding protein 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
PUS1 pseudouridylate synthase 1
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RNR2 RNA, ribosomal cluster 2
RYR1 ryanodine receptor 1 (skeletal)
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCN4A sodium channel, voltage gated, type IV alpha subunit
SEPN1 selenoprotein N, 1
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SOD1 superoxide dismutase 1, soluble
SPTAN1 spectrin, alpha, non-erythrocytic 1
STAC3 SH3 and cysteine rich domain 3
STIM1 stromal interaction molecule 1
TARDBP TAR DNA binding protein
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TK2 thymidine kinase 2, mitochondrial
TMEM43 transmembrane protein 43
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNNT1 troponin T type 1 (skeletal, slow)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIM28 tripartite motif containing 28
TRIM32 tripartite motif containing 32
TTN titin
VCP valosin containing protein
VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)