muscle tissue disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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Genes

189 genes involed in the disease muscle tissue disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AARS alanyl-tRNA synthetase
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACADVL acyl-CoA dehydrogenase, very long chain
ACTA1 actin, alpha 1, skeletal muscle
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
AGK acylglycerol kinase
AGRN agrin
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
ANO5 anoctamin 5
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
BAG3 BCL2-associated athanogene 3
BIN1 bridging integrator 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CALR3 calreticulin 3
CAPN3 calpain 3, (p94)
CAV3 caveolin 3
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLCN1 chloride channel, voltage-sensitive 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DES desmin
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNM2 dynamin 2
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DSC2 desmocollin 2
DSG2 desmoglein 2
DSP desmoplakin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EGR2 early growth response 2
EMD emerin
EYA4 EYA transcriptional coactivator and phosphatase 4
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLNC filamin C, gamma
GARS glycyl-tRNA synthetase
GATA4 GATA binding protein 4
GATAD1 GATA zinc finger domain containing 1
GDAP1 ganglioside induced differentiation associated protein 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GJA5 gap junction protein, alpha 5, 40kDa
GJB1 gap junction protein, beta 1, 32kDa
GMPPB GDP-mannose pyrophosphorylase B
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
HIST1H2AG histone cluster 1, H2ag
HK1 hexokinase 1
HSPB1 heat shock 27kDa protein 1
HSPB8 heat shock 22kDa protein 8
INF2 inverted formin, FH2 and WH2 domain containing
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
JPH2 junctophilin 2
JUP junction plakoglobin
KARS lysyl-tRNA synthetase
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KIF1B kinesin family member 1B
KLHL40 kelch-like family member 40
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA2 laminin, alpha 2
LAMA4 laminin, alpha 4
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MED25 mediator complex subunit 25
MFN2 mitofusin 2
MGME1 mitochondrial genome maintenance exonuclease 1
MPZ myelin protein zero
MTMR2 myotubularin related protein 2
MTO1 mitochondrial tRNA translation optimization 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
MYLK2 myosin light chain kinase 2
MYOT myotilin
MYOZ2 myozenin 2
MYPN myopalladin
NDRG1 N-myc downstream regulated 1
NEB nebulin
NEFL neurofilament, light polypeptide
NEXN nexilin (F actin binding protein)
NPPA natriuretic peptide A
PABPN1 poly(A) binding protein, nuclear 1
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PKP2 plakophilin 2
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLN phospholamban
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRDM16 PR domain containing 16
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSEN1 presenilin 1
PSEN2 presenilin 2
RAB7A RAB7A, member RAS oncogene family
RAPSN receptor-associated protein of the synapse
RBM20 RNA binding motif protein 20
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEPN1 selenoprotein N, 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TAZ tafazzin
TBX20 T-box 20
TCAP titin-cap
TGFB3 transforming growth factor, beta 3
TMEM43 transmembrane protein 43
TMEM5 transmembrane protein 5
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)
TPM1 tropomyosin 1 (alpha)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAPPC11 trafficking protein particle complex 11
TRIM2 tripartite motif containing 2
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSFM Ts translation elongation factor, mitochondrial
TTN titin
TXNDC12 thioredoxin domain containing 12 (endoplasmic reticulum)
TYMP thymidine phosphorylase
VCL vinculin
YARS tyrosyl-tRNA synthetase
ZFPM2 zinc finger protein, FOG family member 2