musculoskeletal system disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A disease of anatomical entity that occurs in the muscular and/or skeletal system. (Human Disease Ontology, DOID_17)
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Genes

356 genes involed in the disease musculoskeletal system 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
ACAN aggrecan
ACTA1 actin, alpha 1, skeletal muscle
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ACVR1 activin A receptor, type I
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AFF3 AF4/FMR2 family, member 3
AGK acylglycerol kinase
AGRN agrin
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALX4 ALX homeobox 4
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
ANO5 anoctamin 5
ARID5B AT rich interactive domain 5B (MRF1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GNT1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAG3 BCL2-associated athanogene 3
BANK1 B-cell scaffold protein with ankyrin repeats 1
BIN1 bridging integrator 1
BLK BLK proto-oncogene, Src family tyrosine kinase
BMP1 bone morphogenetic protein 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
C4A complement component 4A (Rodgers blood group)
C4B complement component 4B (Chido blood group)
C5 complement component 5
CA2 carbonic anhydrase II
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
CCL21 chemokine (C-C motif) ligand 21
CCR6 chemokine (C-C motif) receptor 6
CD2 CD2 molecule
CD28 CD28 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD5 CD5 molecule
CD58 CD58 molecule
CD96 CD96 molecule
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)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCN1 chloride channel, voltage-sensitive 1
CLCN7 chloride channel, voltage-sensitive 7
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COMP cartilage oligomeric matrix protein
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRP C-reactive protein, pentraxin-related
CRTAP cartilage associated protein
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNA3 catenin (cadherin-associated protein), alpha 3
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DES desmin
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DLL3 delta-like 3 (Drosophila)
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
DNASE1 deoxyribonuclease I
DNASE1L3 deoxyribonuclease I-like 3
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
DSE dermatan sulfate epimerase
DSG2 desmoglein 2
DSP desmoplakin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EGR2 early growth response 2
EMD emerin
ERAP1 endoplasmic reticulum aminopeptidase 1
ERF Ets2 repressor factor
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA4 EYA transcriptional coactivator and phosphatase 4
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FGD4 FYVE, RhoGEF and PH domain containing 4
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLNB filamin B, beta
FLNC filamin C, gamma
FREM1 FRAS1 related extracellular matrix 1
GARS glycyl-tRNA synthetase
GATA3 GATA binding protein 3
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
GLI3 GLI family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
GNAS GNAS complex locus
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
HES7 hes family bHLH transcription factor 7
HIST1H2AG histone cluster 1, H2ag
HK1 hexokinase 1
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPB1 heat shock 27kDa protein 1
HSPB8 heat shock 22kDa protein 8
IFITM5 interferon induced transmembrane protein 5
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL11RA interleukin 11 receptor, alpha
IL1A interleukin 1, alpha
IL2 interleukin 2
IL21 interleukin 21
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL6R interleukin 6 receptor
IL6ST interleukin 6 signal transducer
INF2 inverted formin, FH2 and WH2 domain containing
IRAK1 interleukin-1 receptor-associated kinase 1
IRF5 interferon regulatory factor 5
IRF8 interferon regulatory factor 8
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
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
KIF5A kinesin family member 5A
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
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LTK leukocyte receptor tyrosine kinase
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MATN3 matrilin 3
MED25 mediator complex subunit 25
MEGF8 multiple EGF-like-domains 8
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MFN2 mitofusin 2
MGME1 mitochondrial genome maintenance exonuclease 1
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR4315-1 microRNA 4315-1
MIR4315-2 microRNA 4315-2
MPZ myelin protein zero
MSX2 msh homeobox 2
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
NCF2 neutrophil cytosolic factor 2
NDRG1 N-myc downstream regulated 1
NEB nebulin
NEFL neurofilament, light polypeptide
NEXN nexilin (F actin binding protein)
NPPA natriuretic peptide A
OSTM1 osteopetrosis associated transmembrane protein 1
P3H1 prolyl 3-hydroxylase 1
PABPN1 poly(A) binding protein, nuclear 1
PADI4 peptidyl arginine deiminase, type IV
PDCD1 programmed cell death 1
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PIP4K2C phosphatidylinositol-5-phosphate 4-kinase, type II, gamma
PKP2 plakophilin 2
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLN phospholamban
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
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
POR P450 (cytochrome) oxidoreductase
POU3F1 POU class 3 homeobox 1
PPIB peptidylprolyl isomerase B (cyclophilin B)
PRDM1 PR domain containing 1, with ZNF domain
PRDM16 PR domain containing 16
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKCQ protein kinase C, theta
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSEN1 presenilin 1
PSEN2 presenilin 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRC protein tyrosine phosphatase, receptor type, C
PXK PX domain containing serine/threonine kinase
RAB23 RAB23, member RAS oncogene family
RAB7A RAB7A, member RAS oncogene family
RAPSN receptor-associated protein of the synapse
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)
RBM20 RNA binding motif protein 20
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RCAN1 regulator of calcineurin 1
RECQL4 RecQ protein-like 4
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
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
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 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
SKI SKI proto-oncogene
SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SNX10 sorting nexin 10
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SP7 Sp7 transcription factor
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPRED2 sprouty-related, EVH1 domain containing 2
SQSTM1 sequestosome 1
STAT4 signal transducer and activator of transcription 4
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TAGAP T-cell activation RhoGTPase activating protein
TAZ tafazzin
TBX20 T-box 20
TCAP titin-cap
TCF12 transcription factor 12
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TLE3 transducin-like enhancer of split 3
TLR5 toll-like receptor 5
TMEM38B transmembrane protein 38B
TMEM43 transmembrane protein 43
TMEM5 transmembrane protein 5
TMPO thymopoietin
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF14 tumor necrosis factor receptor superfamily, member 14
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
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)
TNXB tenascin XB
TPM1 tropomyosin 1 (alpha)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAF1 TNF receptor-associated factor 1
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAPPC11 trafficking protein particle complex 11
TREX1 three prime repair exonuclease 1
TRIM2 tripartite motif containing 2
TRIM32 tripartite motif containing 32
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSFM Ts translation elongation factor, mitochondrial
TTN titin
TWIST1 twist family bHLH transcription factor 1
TXNDC12 thioredoxin domain containing 12 (endoplasmic reticulum)
TYK2 tyrosine kinase 2
TYMP thymidine phosphorylase
VCL vinculin
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WISP3 WNT1 inducible signaling pathway protein 3
WNT1 wingless-type MMTV integration site family, member 1
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
YARS tyrosyl-tRNA synthetase
ZFPM2 zinc finger protein, FOG family member 2