Neuromuscular Diseases Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D009468
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Genes

293 genes/proteins associated with the disease Neuromuscular Diseases from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
XK X-linked Kx blood group 2.88009
TPI1 triosephosphate isomerase 1 2.88009
TNF tumor necrosis factor 1.93072
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 1.8113
BAX BCL2-associated X protein 1.75973
CCL2 chemokine (C-C motif) ligand 2 1.7568
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 1.74039
CTSD cathepsin D 1.71932
IFNG interferon, gamma 1.70947
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.68825
NR1I2 nuclear receptor subfamily 1, group I, member 2 1.66446
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.66124
IL6 interleukin 6 1.65336
THNSL2 threonine synthase-like 2 (S. cerevisiae) 1.65181
BCL2 B-cell CLL/lymphoma 2 1.63496
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 1.6287
NR1I3 nuclear receptor subfamily 1, group I, member 3 1.60384
GSTP1 glutathione S-transferase pi 1 1.58065
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 1.57829
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1.55698
INHBE inhibin, beta E 1.55402
CASP8 caspase 8, apoptosis-related cysteine peptidase 1.53796
CAT catalase 1.53506
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 1.53184
TGFB1 transforming growth factor, beta 1 1.5254
MGMT O-6-methylguanine-DNA methyltransferase 1.52187
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1.51582
CXCL8 chemokine (C-X-C motif) ligand 8 1.50751
PRL prolactin 1.50298
CDK2 cyclin-dependent kinase 2 1.49304
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A 1.49045
CTSL cathepsin L 1.48993
FAS Fas cell surface death receptor 1.48813
HSPD1 heat shock 60kDa protein 1 (chaperonin) 1.47838
IL1B interleukin 1, beta 1.44927
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1.43727
RRM2 ribonucleotide reductase M2 1.43618
GADD45A growth arrest and DNA-damage-inducible, alpha 1.43103
FOS FBJ murine osteosarcoma viral oncogene homolog 1.42967
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.41694
SGK1 serum/glucocorticoid regulated kinase 1 1.41396
VCAM1 vascular cell adhesion molecule 1 1.41174
BCL2L1 BCL2-like 1 1.39619
CREM cAMP responsive element modulator 1.39086
IL1A interleukin 1, alpha 1.3793
IL2 interleukin 2 1.37619
SLC22A1 solute carrier family 22 (organic cation transporter), member 1 1.37532
MPO myeloperoxidase 1.36447
IGF1 insulin-like growth factor 1 (somatomedin C) 1.36275
TP53 tumor protein p53 1.36218
FDFT1 farnesyl-diphosphate farnesyltransferase 1 1.35618
TNNI3 troponin I type 3 (cardiac) 1.35531
COL6A3 collagen, type VI, alpha 3 1.34897
ATF5 activating transcription factor 5 1.34576
TTK TTK protein kinase 1.33966
IL4 interleukin 4 1.33938
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 1.33434
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) 1.33257
ACHE acetylcholinesterase (Yt blood group) 1.33228
TOP2A topoisomerase (DNA) II alpha 170kDa 1.32846
MAPK1 mitogen-activated protein kinase 1 1.32816
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 1.32488
APOE apolipoprotein E 1.32458
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 1.30421
CCNB1 cyclin B1 1.30299
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase 1.30056
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2 1.29936
JUN jun proto-oncogene 1.29812
CCND1 cyclin D1 1.29287
PTK2B protein tyrosine kinase 2 beta 1.28858
GJB1 gap junction protein, beta 1, 32kDa 1.28088
EGF epidermal growth factor 1.2744
CTSB cathepsin B 1.2744
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 1.27347
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 1.27347
CCNA2 cyclin A2 1.27224
ICAM1 intercellular adhesion molecule 1 1.27193
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B 1.26856
GCLM glutamate-cysteine ligase, modifier subunit 1.26545
HMOX1 heme oxygenase 1 1.26514
CD14 CD14 molecule 1.26483
KIF20A kinesin family member 20A 1.26359
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 1.26144
CDK5 cyclin-dependent kinase 5 1.26052
EDN1 endothelin 1 1.25776
ENC1 ectodermal-neural cortex 1 (with BTB domain) 1.25682
SRGN serglycin 1.25619
NME2 NME/NM23 nucleoside diphosphate kinase 2 1.25245
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.25183
BTG1 B-cell translocation gene 1, anti-proliferative 1.24997
MAPK3 mitogen-activated protein kinase 3 1.2456
PHYH phytanoyl-CoA 2-hydroxylase 1.24496
RRM2B ribonucleotide reductase M2 B (TP53 inducible) 1.24118
F2 coagulation factor II (thrombin) 1.24087
NRP1 neuropilin 1 1.23868
AK1 adenylate kinase 1 1.23743
DPYD dihydropyrimidine dehydrogenase 1.2368
POMC proopiomelanocortin 1.23456
MELK maternal embryonic leucine zipper kinase 1.23392
GPX4 glutathione peroxidase 4 1.23233
SRM spermidine synthase 1.22306
PDIA3 protein disulfide isomerase family A, member 3 1.22177
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 1.21759
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 1.21567
GSR glutathione reductase 1.21337
EGR2 early growth response 2 1.21141
PRDX2 peroxiredoxin 2 1.21141
MKI67 marker of proliferation Ki-67 1.21011
KLF6 Kruppel-like factor 6 1.20946
ACADL acyl-CoA dehydrogenase, long chain 1.20946
CASP7 caspase 7, apoptosis-related cysteine peptidase 1.20784
GAMT guanidinoacetate N-methyltransferase 1.20622
IL23A interleukin 23, alpha subunit p19 1.20622
SBSPON somatomedin B and thrombospondin, type 1 domain containing 1.20558
BUB3 BUB3 mitotic checkpoint protein 1.20558
METRN meteorin, glial cell differentiation regulator 1.20558
CES2 carboxylesterase 2 1.20361
HDHD3 haloacid dehalogenase-like hydrolase domain containing 3 1.199
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 1.19412
BCAT1 branched chain amino-acid transaminase 1, cytosolic 1.19345
ACACB acetyl-CoA carboxylase beta 1.19345
VEGFA vascular endothelial growth factor A 1.19279
NPPA natriuretic peptide A 1.19047
BBS4 Bardet-Biedl syndrome 4 1.18718
MCL1 myeloid cell leukemia 1 1.18424
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 1.17926
PARP1 poly (ADP-ribose) polymerase 1 1.17728
SOD1 superoxide dismutase 1, soluble 1.17629
PCCB propionyl CoA carboxylase, beta polypeptide 1.17563
ABHD1 abhydrolase domain containing 1 1.17563
DUSP1 dual specificity phosphatase 1 1.17333
RACGAP1 Rac GTPase activating protein 1 1.17235
SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1 1.16933
GSTM1 glutathione S-transferase mu 1 1.16833
PRC1 protein regulator of cytokinesis 1 1.16666
KIF23 kinesin family member 23 1.16666
TMED5 transmembrane emp24 protein transport domain containing 5 1.16467
COL18A1 collagen, type XVIII, alpha 1 1.16401
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 1.16368
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 1.16368
TAC1 tachykinin, precursor 1 1.16368
CCNB2 cyclin B2 1.16335
PCNA proliferating cell nuclear antigen 1.16137
FXYD1 FXYD domain containing ion transport regulator 1 1.15933
POR P450 (cytochrome) oxidoreductase 1.15899
HMMR hyaluronan-mediated motility receptor (RHAMM) 1.15831
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 1.15797
IL1RN interleukin 1 receptor antagonist 1.15627
CPT2 carnitine palmitoyltransferase 2 1.1556
HSPA1B heat shock 70kDa protein 1B 1.15492
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 1.15425
STIP1 stress-induced phosphoprotein 1 1.1529
EGR1 early growth response 1 1.1529
ACOT4 acyl-CoA thioesterase 4 1.14919
TJP3 tight junction protein 3 1.14919
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 1.14747
CRYAB crystallin, alpha B 1.14473
TAT tyrosine aminotransferase 1.14268
CCND2 cyclin D2 1.13997
ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 1.13963
IGFBP4 insulin-like growth factor binding protein 4 1.13963
CASP9 caspase 9, apoptosis-related cysteine peptidase 1.13929
MAPT microtubule-associated protein tau 1.13381
BTG2 BTG family, member 2 1.13347
COL4A1 collagen, type IV, alpha 1 1.13211
GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) 1.13211
PTPN3 protein tyrosine phosphatase, non-receptor type 3 1.13007
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 1.12906
ATM ATM serine/threonine kinase 1.12906
FN1 fibronectin 1 1.12906
ALB albumin 1.12872
PKLR pyruvate kinase, liver and RBC 1.12737
NUSAP1 nucleolar and spindle associated protein 1 1.12737
AGTR1 angiotensin II receptor, type 1 1.12737
GSTO1 glutathione S-transferase omega 1 1.12737
SCARB1 scavenger receptor class B, member 1 1.12599
ECH1 enoyl CoA hydratase 1, peroxisomal 1.12495
DDIT3 DNA-damage-inducible transcript 3 1.12461
TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 1.12117
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) 1.12117
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit 1.11707
C8B complement component 8, beta polypeptide 1.11673
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b 1.11255
AR androgen receptor 1.11081
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 1.11081
GPX1 glutathione peroxidase 1 1.11011
EGFR epidermal growth factor receptor 1.10977
NOS3 nitric oxide synthase 3 (endothelial cell) 1.10977
CP ceruloplasmin (ferroxidase) 1.10942
PLK1 polo-like kinase 1 1.10838
HSDL2 hydroxysteroid dehydrogenase like 2 1.10838
PRIM2 primase, DNA, polypeptide 2 (58kDa) 1.10803
CDK1 cyclin-dependent kinase 1 1.10803
ELMO3 engulfment and cell motility 3 1.10665
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide 1.10631
SFXN1 sideroflexin 1 1.10424
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1.10246
S100A4 S100 calcium binding protein A4 1.10175
PPIB peptidylprolyl isomerase B (cyclophilin B) 1.09998
FANCI Fanconi anemia, complementation group I 1.09998
PDE4B phosphodiesterase 4B, cAMP-specific 1.09927
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 1.09927
AKR7A3 aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 1.09716
GSN gelsolin 1.09716
NUDT15 nudix (nucleoside diphosphate linked moiety X)-type motif 15 1.09681
NAT8 N-acetyltransferase 8 (GCN5-related, putative) 1.09611
SLC22A2 solute carrier family 22 (organic cation transporter), member 2 1.09506
ETFB electron-transfer-flavoprotein, beta polypeptide 1.09226
PBX1 pre-B-cell leukemia homeobox 1 1.0919
KDR kinase insert domain receptor 1.09119
AHR aryl hydrocarbon receptor 1.0894
BIRC3 baculoviral IAP repeat containing 3 1.08833
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 1.08833
TIMP1 TIMP metallopeptidase inhibitor 1 1.08655
UBE2C ubiquitin-conjugating enzyme E2C 1.08619
CHAF1A chromatin assembly factor 1, subunit A (p150) 1.08442
RBPMS RNA binding protein with multiple splicing 1.08407
AURKA aurora kinase A 1.08196
SPON1 spondin 1, extracellular matrix protein 1.08091
BIRC5 baculoviral IAP repeat containing 5 1.08091
MT1F metallothionein 1F 1.08055
NBN nibrin 1.08055
HSP90AB1 heat shock protein 90kDa alpha (cytosolic), class B member 1 1.07983
PEX11B peroxisomal biogenesis factor 11 beta 1.07911
TUBG2 tubulin, gamma 2 1.07875
AURKB aurora kinase B 1.07589
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.07482
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 1.0734
FLT1 fms-related tyrosine kinase 1 1.07163
SOD2 superoxide dismutase 2, mitochondrial 1.07128
TPM1 tropomyosin 1 (alpha) 1.06588
CLCN4 chloride channel, voltage-sensitive 4 1.06297
KIFC1 kinesin family member C1 1.06261
OGT O-linked N-acetylglucosamine (GlcNAc) transferase 1.06225
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 1.06225
IL18 interleukin 18 1.06188
PON1 paraoxonase 1 1.06188
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.06116
BTG3 BTG family, member 3 1.05936
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 1.05864
GADD45G growth arrest and DNA-damage-inducible, gamma 1.05793
LOX lysyl oxidase 1.05793
S100A9 S100 calcium binding protein A9 1.0561
ACSL5 acyl-CoA synthetase long-chain family member 5 1.05573
GJA1 gap junction protein, alpha 1, 43kDa 1.05573
FGGY FGGY carbohydrate kinase domain containing 1.05498
COL1A1 collagen, type I, alpha 1 1.05498
CLU clusterin 1.05312
ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 1.05237
PCSK9 proprotein convertase subtilisin/kexin type 9 1.05237
EEF1G eukaryotic translation elongation factor 1 gamma 1.052
CKAP2 cytoskeleton associated protein 2 1.052
FASLG Fas ligand (TNF superfamily, member 6) 1.05052
RPS6 ribosomal protein S6 1.05015
WIPI1 WD repeat domain, phosphoinositide interacting 1 1.04941
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit 1.04868
COX6B2 cytochrome c oxidase subunit VIb polypeptide 2 (testis) 1.04757
BAG1 BCL2-associated athanogene 1.04574
NOS2 nitric oxide synthase 2, inducible 1.04574
CALR calreticulin 1.04427
LDHA lactate dehydrogenase A 1.04051
GEM GTP binding protein overexpressed in skeletal muscle 1.03901
CDC25C cell division cycle 25C 1.03864
CA2 carbonic anhydrase II 1.03715
APP amyloid beta (A4) precursor protein 1.03567
PSPC1 paraspeckle component 1 1.03345
CDC20 cell division cycle 20 1.03345
THBS1 thrombospondin 1 1.03159
ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein 1.02971
RFC3 replication factor C (activator 1) 3, 38kDa 1.02971
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 1.02933
KIF1B kinesin family member 1B 1.02933
CDK4 cyclin-dependent kinase 4 1.02896
SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 1.02671
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 1.02634
HSPA1A heat shock 70kDa protein 1A 1.02634
ATP7A ATPase, Cu++ transporting, alpha polypeptide 1.02373
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial 1.02336
NDUFV3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 1.02114
PQLC1 PQ loop repeat containing 1 1.02077
HMGA1 high mobility group AT-hook 1 1.0204
PFKP phosphofructokinase, platelet 1.0204
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 1.01776
CFLAR CASP8 and FADD-like apoptosis regulator 1.01739
FGF21 fibroblast growth factor 21 1.01474
ECI1 enoyl-CoA delta isomerase 1 1.01437
MMP9 matrix metallopeptidase 9 1.01437
CDCA3 cell division cycle associated 3 1.01437
KRT8 keratin 8, type II 1.01437
SPCS2 signal peptidase complex subunit 2 homolog (S. cerevisiae) 1.01361
SDC2 syndecan 2 1.01174
VCAN versican 1.01174
EXO1 exonuclease 1 1.01137