myopathy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A muscular disease in which the muscle fibers do not function resulting in muscular weakness. (Human Disease Ontology, DOID_423)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003198
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Genes

163 genes associated with the myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABHD5 abhydrolase domain containing 5
ACACA acetyl-CoA carboxylase alpha
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACTA1 actin, alpha 1, skeletal muscle
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
AGK acylglycerol kinase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDOA aldolase A, fructose-bisphosphate
ALPL alkaline phosphatase, liver/bone/kidney
AMPD1 adenosine monophosphate deaminase 1
ANO5 anoctamin 5
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BAG3 BCL2-associated athanogene 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BIN1 bridging integrator 1
C10ORF2 chromosome 10 open reading frame 2
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CFL2 cofilin 2 (muscle)
CHKB choline kinase beta
CISD2 CDGSH iron sulfur domain 2
CLIP2 CAP-GLY domain containing linker protein 2
COL12A1 collagen, type XII, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COX1
COX2
COX3
CPT2 carnitine palmitoyltransferase 2
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNS cystinosin, lysosomal cystine transporter
DES desmin
DMD dystrophin
DOLK dolichol kinase
DSG2 desmoglein 2
DYSF dysferlin
ELN elastin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FHL1 four and a half LIM domains 1
FHL2 four and a half LIM domains 2
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLNC filamin C, gamma
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATAD1 GATA zinc finger domain containing 1
GCLC glutamate-cysteine ligase, catalytic subunit
GFER growth factor, augmenter of liver regeneration
GK glycerol kinase
GMPPB GDP-mannose pyrophosphorylase B
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HACD1 3-hydroxyacyl-CoA dehydratase 1
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HSPG2 heparan sulfate proteoglycan 2
ISCU iron-sulfur cluster assembly enzyme
ITGA7 integrin, alpha 7
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
LAMA4 laminin, alpha 4
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMNB2 lamin B2
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TP tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTAP methylthioadenosine phosphorylase
MYBPC3 myosin binding protein C, cardiac
MYH2 myosin, heavy chain 2, skeletal muscle, adult
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYOT myotilin
MYPN myopalladin
ND1
NEB nebulin
NEXN nexilin (F actin binding protein)
OPA1 optic atrophy 1 (autosomal dominant)
ORAI1 ORAI calcium release-activated calcium modulator 1
PABPN1 poly(A) binding protein, nuclear 1
PANK2 pantothenate kinase 2
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
PGAM2 phosphoglycerate mutase 2 (muscle)
PGK1 phosphoglycerate kinase 1
PLEC plectin
PLN phospholamban
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSEN1 presenilin 1
PSEN2 presenilin 2
PTEN phosphatase and tensin homolog
PUS1 pseudouridylate synthase 1
PYGM phosphorylase, glycogen, muscle
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM20 RNA binding motif protein 20
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNR1 RNA, ribosomal cluster 1
RYR1 ryanodine receptor 1 (skeletal)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEPN1 selenoprotein N, 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
STIM1 stromal interaction molecule 1
TAZ tafazzin
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TCAP titin-cap
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TK2 thymidine kinase 2, mitochondrial
TMPO thymopoietin
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT1 troponin T type 1 (skeletal, slow)
TNNT2 troponin T type 2 (cardiac)
TNPO3 transportin 3
TPI1 triosephosphate isomerase 1
TPM1 tropomyosin 1 (alpha)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32
TTN titin
TXNRD2 thioredoxin reductase 2
UBA1 ubiquitin-like modifier activating enzyme 1
VCL vinculin
VCP valosin containing protein
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WFS1 Wolfram syndrome 1 (wolframin)
XDH xanthine dehydrogenase
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZBTB20 zinc finger and BTB domain containing 20