Inclusion Body 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/C0751713
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Genes

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ACLY ATP citrate lyase
ACOT7 acyl-CoA thioesterase 7
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTBL2 actin, beta-like 2
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ALB albumin
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ATAD1 ATPase family, AAA domain containing 1
ATF4 activating transcription factor 4
ATF6 activating transcription factor 6
ATG5 autophagy related 5
ATG7 autophagy related 7
BACE1 beta-site APP-cleaving enzyme 1
BACE2 beta-site APP-cleaving enzyme 2
BTNL2 butyrophilin-like 2
CAPN3 calpain 3, (p94)
CAV1 caveolin 1, caveolae protein, 22kDa
CD47 CD47 molecule
CFDP1 craniofacial development protein 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
CRISP2 cysteine-rich secretory protein 2
CRYAB crystallin, alpha B
CST3 cystatin C
CTSB cathepsin B
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL11 chemokine (C-X-C motif) ligand 11
CXCL9 chemokine (C-X-C motif) ligand 9
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR4 chemokine (C-X-C motif) receptor 4
DCTN4 dynactin 4 (p62)
DDIT3 DNA-damage-inducible transcript 3
DEFB103A defensin, beta 103A
DEFB103B defensin, beta 103B
DNAH8 dynein, axonemal, heavy chain 8
DYSF dysferlin
EIF4G2 eukaryotic translation initiation factor 4 gamma, 2
ELK1 ELK1, member of ETS oncogene family
FHL5 four and a half LIM domains 5
FST follistatin
FYCO1 FYVE and coiled-coil domain containing 1
GEMIN4 gem (nuclear organelle) associated protein 4
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GSN gelsolin
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
H1F0 H1 histone family, member 0
H2AX H2A.X variant histone
HLA-B major histocompatibility complex, class I, B
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IGFALS insulin-like growth factor binding protein, acid labile subunit
IL1B interleukin 1, beta
ISYNA1 inositol-3-phosphate synthase 1
KCNH4 potassium channel, voltage gated eag related subfamily H, member 4
KCNH8 potassium channel, voltage gated eag related subfamily H, member 8
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
LAMP2 lysosomal-associated membrane protein 2
LMNA lamin A/C
MAPT microtubule-associated protein tau
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MOAP1 modulator of apoptosis 1
MST1 macrophage stimulating 1
MST1R macrophage stimulating 1 receptor
MSTN myostatin
MYH2 myosin, heavy chain 2, skeletal muscle, adult
NBR1 neighbor of BRCA1 gene 1
NF1 neurofibromin 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NMS neuromedin S
NOS2 nitric oxide synthase 2, inducible
NOTCH4 notch 4
NT5C1A 5'-nucleotidase, cytosolic IA
NUP62 nucleoporin 62kDa
OPTN optineurin
PHF1 PHD finger protein 1
POTEF POTE ankyrin domain family, member F
POTEM POTE ankyrin domain family, member M
PRNP prion protein
PRSS55 protease, serine, 55
PSEN1 presenilin 1
PSMD2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2
RBM45 RNA binding motif protein 45
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SOD1 superoxide dismutase 1, soluble
SPZ1 spermatogenic leucine zipper 1
SQSTM1 sequestosome 1
TARDBP TAR DNA binding protein
TCP1 t-complex 1
TGM2 transglutaminase 2
THBS1 thrombospondin 1
TIMP1 TIMP metallopeptidase inhibitor 1
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)
TREX1 three prime repair exonuclease 1
TTR transthyretin
TUBA1A tubulin, alpha 1a
TUBA1B tubulin, alpha 1b
UBB ubiquitin B
VCP valosin containing protein
XBP1 X-box binding protein 1
ZFAND1 zinc finger, AN1-type domain 1