Nonaka 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/C1853926
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Genes

131 genes associated with the disease Nonaka 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
ACTN2 actinin, alpha 2
ACTR2 ARP2 actin-related protein 2 homolog (yeast)
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
AGER advanced glycosylation end product-specific receptor
AGRP agouti related neuropeptide
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANGPT1 angiopoietin 1
APLN apelin
APP amyloid beta (A4) precursor protein
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BACE1 beta-site APP-cleaving enzyme 1
BACE2 beta-site APP-cleaving enzyme 2
BMP2 bone morphogenetic protein 2
C5AR1 complement component 5a receptor 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAT catalase
CAV3 caveolin 3
CD44 CD44 molecule (Indian blood group)
CDH5 cadherin 5, type 2 (vascular endothelium)
CFP complement factor properdin
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLTA clathrin, light chain A
CRYAB crystallin, alpha B
CXCL8 chemokine (C-X-C motif) ligand 8
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCN decorin
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DES desmin
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DUSP2 dual specificity phosphatase 2
EDN1 endothelin 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FGF13 fibroblast growth factor 13
FGF2 fibroblast growth factor 2 (basic)
FGFR4 fibroblast growth factor receptor 4
FN1 fibronectin 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GRHL3 grainyhead-like 3 (Drosophila)
HCRT hypocretin (orexin) neuropeptide precursor
HCRTR1 hypocretin (orexin) receptor 1
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
ICAM1 intercellular adhesion molecule 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IL6 interleukin 6
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
KLF6 Kruppel-like factor 6
LEP leptin
LIF leukemia inhibitory factor
MAPT microtubule-associated protein tau
MME membrane metallo-endopeptidase
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MOK MOK protein kinase
MTA1 metastasis associated 1
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYD88 myeloid differentiation primary response 88
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYOT myotilin
NCR1 natural cytotoxicity triggering receptor 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NOD1 nucleotide-binding oligomerization domain containing 1
NPY neuropeptide Y
ODC1 ornithine decarboxylase 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIP prolactin-induced protein
POMC proopiomelanocortin
PRDX4 peroxiredoxin 4
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRL prolactin
PRNP prion protein
PRRT2 proline-rich transmembrane protein 2
PSMG1 proteasome (prosome, macropain) assembly chaperone 1
PTEN phosphatase and tensin homolog
PTHLH parathyroid hormone-like hormone
PTTG1 pituitary tumor-transforming 1
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RARRES3 retinoic acid receptor responder (tazarotene induced) 3
RENBP renin binding protein
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCT secretin
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SF3B1 splicing factor 3b, subunit 1, 155kDa
SFRP1 secreted frizzled-related protein 1
SHBG sex hormone-binding globulin
SIGMAR1 sigma non-opioid intracellular receptor 1
SIRT2 sirtuin 2
SLC16A3 solute carrier family 16 (monocarboxylate transporter), member 3
SLC16A4 solute carrier family 16, member 4
SMOX spermine oxidase
SNAI1 snail family zinc finger 1
SQSTM1 sequestosome 1
SST somatostatin
TAC1 tachykinin, precursor 1
TET2 tet methylcytosine dioxygenase 2
TLR1 toll-like receptor 1
TLR4 toll-like receptor 4
TLR6 toll-like receptor 6
TNF tumor necrosis factor
TNNT1 troponin T type 1 (skeletal, slow)
TP53 tumor protein p53
TPM2 tropomyosin 2 (beta)
TRPV1 transient receptor potential cation channel, subfamily V, member 1
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPR2 vasoactive intestinal peptide receptor 2
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon