Myofibrillar Myopathy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. (Human Phenotype Ontology, HP_0003715)
External Link https://www.disgenet.org/browser/0/1/0/C2678065
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Genes

60 genes associated with the disease Myofibrillar 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
ACTC1 actin, alpha, cardiac muscle 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANO5 anoctamin 5
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
BAG3 BCL2-associated athanogene 3
CAPN3 calpain 3, (p94)
CBS cystathionine-beta-synthase
CFL2 cofilin 2 (muscle)
CHD7 chromodomain helicase DNA binding protein 7
COX5A cytochrome c oxidase subunit Va
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPOX coproporphyrinogen oxidase
CPT1B carnitine palmitoyltransferase 1B (muscle)
CRYAB crystallin, alpha B
CS citrate synthase
DCTN4 dynactin 4 (p62)
DES desmin
DMD dystrophin
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
FHL1 four and a half LIM domains 1
FLNC filamin C, gamma
FN1 fibronectin 1
GFAP glial fibrillary acidic protein
GSN gelsolin
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
HMBS hydroxymethylbilane synthase
HSPB8 heat shock 22kDa protein 8
IL1B interleukin 1, beta
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KLHL40 kelch-like family member 40
KY kyphoscoliosis peptidase
LDB3 LIM domain binding 3
LMNA lamin A/C
LOC102724560 cystathionine beta-synthase
MATR3 matrin 3
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NRAP nebulin-related anchoring protein
NUP62 nucleoporin 62kDa
PDLIM5 PDZ and LIM domain 5
PLN phospholamban
PRDX6 peroxiredoxin 6
PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)
PTEN phosphatase and tensin homolog
PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SQSTM1 sequestosome 1
SYNM synemin, intermediate filament protein
TARDBP TAR DNA binding protein
TPM2 tropomyosin 2 (beta)
TTN titin
TTR transthyretin
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
USH2A Usher syndrome 2A (autosomal recessive, mild)
WASHC5 WASH complex subunit 5
XIRP1 xin actin binding repeat containing 1
XIRP2 xin actin binding repeat containing 2