Myopathy Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
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)
Similar Terms
Downloads & Tools

Genes

112 genes involed in the disease Myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
OPA1 optic atrophy 1 (autosomal dominant) 5.0
MYH7 myosin, heavy chain 7, cardiac muscle, beta 5.0
DNM2 dynamin 2 5.0
PABPN1 poly(A) binding protein, nuclear 1 5.0
BIN1 bridging integrator 1 5.0
DMPK dystrophia myotonica-protein kinase 5.0
RYR1 ryanodine receptor 1 (skeletal) 5.0
STAC3 SH3 and cysteine rich domain 3 5.0
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 5.0
AFG3L2 AFG3-like AAA ATPase 2 5.0
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 5.0
CNBP CCHC-type zinc finger, nucleic acid binding protein 5.0
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 5.0
SPEG SPEG complex locus 5.0
CCDC78 coiled-coil domain containing 78 5.0
DUX4 double homeobox 4 5.0
MTM1 myotubularin 1 5.0
COL6A3 collagen, type VI, alpha 3 4.0
GOSR2 golgi SNAP receptor complex member 2 4.0
TOP3A topoisomerase (DNA) III alpha 4.0
UNC45B unc-45 homolog B (C. elegans) 4.0
ACTA1 actin, alpha 1, skeletal muscle 4.0
RNASEH1 ribonuclease H1 4.0
FKTN fukutin 4.0
TTN titin 4.0
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 4.0
JAG2 jagged 2 4.0
PLEC plectin 4.0
INPP5K inositol polyphosphate-5-phosphatase K 4.0
TRIP4 thyroid hormone receptor interactor 4 4.0
CRYAB crystallin, alpha B 4.0
CFL2 cofilin 2 (muscle) 4.0
KBTBD13 kelch repeat and BTB (POZ) domain containing 13 4.0
POMK protein-O-mannose kinase 4.0
DGUOK deoxyguanosine kinase 4.0
POGLUT1 protein O-glucosyltransferase 1 4.0
LDB3 LIM domain binding 3 4.0
CAPN3 calpain 3, (p94) 4.0
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 4.0
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 4.0
POLG2 polymerase (DNA directed), gamma 2, accessory subunit 4.0
KY kyphoscoliosis peptidase 4.0
GIPC1 GIPC PDZ domain containing family, member 1 4.0
TWNK twinkle mtDNA helicase 4.0
SELENON selenoprotein N 4.0
CRPPA CDP-L-ribitol pyrophosphorylase A 4.0
RXYLT1 ribitol xylosyltransferase 1 4.0
ANO5 anoctamin 5 4.0
TRIM32 tripartite motif containing 32 4.0
FKRP fukutin related protein 4.0
MYOT myotilin 4.0
TNPO3 transportin 3 4.0
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like 4.0
PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 4.0
TOR1AIP1 torsin A interacting protein 1 4.0
SNUPN snurportin 1 4.0
LAMA2 laminin, alpha 2 4.0
MYPN myopalladin 4.0
TMEM43 transmembrane protein 43 4.0
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 4.0
LARGE1 LARGE xylosyl- and glucuronyltransferase 1 4.0
ITGA7 integrin, alpha 7 4.0
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 4.0
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 4.0
KLHL40 kelch-like family member 40 4.0
KLHL41 kelch-like family member 41 4.0
FHL1 four and a half LIM domains 1 4.0
DNA2 DNA replication helicase/nuclease 2 4.0
SYNE1 spectrin repeat containing, nuclear envelope 1 4.0
SYNE2 spectrin repeat containing, nuclear envelope 2 4.0
TRAPPC11 trafficking protein particle complex 11 4.0
MGME1 mitochondrial genome maintenance exonuclease 1 4.0
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 4.0
LMOD3 leiomodin 3 (fetal) 4.0
CHKB choline kinase beta 4.0
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 4.0
TNNT1 troponin T type 1 (skeletal, slow) 4.0
POMT1 protein-O-mannosyltransferase 1 4.0
POMT2 protein-O-mannosyltransferase 2 4.0
TCAP titin-cap 4.0
TYMP thymidine phosphorylase 4.0
EMD emerin 4.0
RRM1 ribonucleotide reductase M1 4.0
COL6A1 collagen, type VI, alpha 1 4.0
COL6A2 collagen, type VI, alpha 2 4.0
LMNA lamin A/C 4.0
GGPS1 geranylgeranyl diphosphate synthase 1 4.0
RRM2B ribonucleotide reductase M2 B (TP53 inducible) 4.0
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 4.0
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 4.0
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 4.0
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 4.0
GMPPB GDP-mannose pyrophosphorylase B 4.0
MYL2 myosin, light chain 2, regulatory, cardiac, slow 4.0
NEB nebulin 4.0
BET1 Bet1 golgi vesicular membrane trafficking protein 4.0
TPM3 tropomyosin 3 4.0
TPM2 tropomyosin 2 (beta) 4.0
POPDC3 popeye domain containing 3 4.0
POLG polymerase (DNA directed), gamma 4.0
CAV3 caveolin 3 4.0
DES desmin 4.0
B4GAT1 beta-1,4-glucuronyltransferase 1 4.0
BAG3 BCL2-associated athanogene 3 4.0
LIMS2 LIM and senescent cell antigen-like domains 2 4.0
TK2 thymidine kinase 2, mitochondrial 4.0
SVIL supervillin 4.0
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 4.0
COL12A1 collagen, type XII, alpha 1 4.0
FLNC filamin C, gamma 4.0
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 4.0
DYSF dysferlin 3.0