duchenne muscular dystrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. (Human Disease Ontology, DOID_11723)
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Genes

281 genes co-occuring with the disease duchenne muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
DMD dystrophin 4.27423
UTRN utrophin 2.69442
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 2.07761
GK glycerol kinase 2.01294
DNM2 dynamin 2 1.87561
MSTN myostatin 1.80201
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 1.73914
MYOD1 myogenic differentiation 1 1.52996
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 1.4935
DTNB dystrobrevin, beta 1.39433
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 1.38559
SNTA1 syntrophin, alpha 1 1.36379
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 1.31886
CAV3 caveolin 3 1.26124
FKTN fukutin 1.25515
LAMA2 laminin, alpha 2 1.23429
GLB1 galactosidase, beta 1 1.22649
NEB nebulin 1.21565
NR0B1 nuclear receptor subfamily 0, group B, member 1 1.19661
SSPN sarcospan 1.18841
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) 1.17335
MYF5 myogenic factor 5 1.17249
MB myoglobin 1.16906
CMYA5 cardiomyopathy associated 5 1.15624
TRPC1 transient receptor potential cation channel, subfamily C, member 1 1.15198
SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 1.14433
CKM creatine kinase, muscle 1.14051
PKLR pyruvate kinase, liver and RBC 1.12909
MYOG myogenin (myogenic factor 4) 1.12698
ZFP64 ZFP64 zinc finger protein 1.09209
SLMAP sarcolemma associated protein 1.08957
PKM pyruvate kinase, muscle 1.05639
CASQ2 calsequestrin 2 (cardiac muscle) 1.04462
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1.03451
PAMR1 peptidase domain containing associated with muscle regeneration 1 0.980952
DYSF dysferlin 0.95369
PAX7 paired box 7 0.935385
CYBB cytochrome b-245, beta polypeptide 0.93
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 0.925865
TTN titin 0.915139
AQP4 aquaporin 4 0.898693
DNAH8 dynein, axonemal, heavy chain 8 0.881882
MYL1 myosin, light chain 1, alkali; skeletal, fast 0.853221
CA3 carbonic anhydrase III 0.831508
SHC2 SHC (Src homology 2 domain containing) transforming protein 2 0.830689
OTC ornithine carbamoyltransferase 0.827819
LTBP4 latent transforming growth factor beta binding protein 4 0.76921
CMAHP cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene 0.756564
SACS sacsin molecular chaperone 0.729357
NOL8 nucleolar protein 8 0.728952
TRPV2 transient receptor potential cation channel, subfamily V, member 2 0.726524
CAPN2 calpain 2, (m/II) large subunit 0.724502
DCN decorin 0.705949
SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) 0.703938
IGF1 insulin-like growth factor 1 (somatomedin C) 0.701928
TGFB1 transforming growth factor, beta 1 0.695504
AMELY amelogenin, Y-linked 0.689893
ACYP1 acylphosphatase 1, erythrocyte (common) type 0.671527
XG Xg blood group 0.669538
AMELX amelogenin, X-linked 0.656837
AVL9 AVL9 homolog (S. cerevisiase) 0.654463
FST follistatin 0.653276
VCL vinculin 0.646559
PDE5A phosphodiesterase 5A, cGMP-specific 0.643797
CKB creatine kinase, brain 0.642221
SPTB spectrin, beta, erythrocytic 0.636315
STIM1 stromal interaction molecule 1 0.635135
CKMT1A creatine kinase, mitochondrial 1A 0.631991
MYF6 myogenic factor 6 (herculin) 0.62728
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 0.62728
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.625711
JPH1 junctophilin 1 0.608885
CKMT1B creatine kinase, mitochondrial 1B 0.605372
PGM5 phosphoglucomutase 5 0.60303
RYR2 ryanodine receptor 2 (cardiac) 0.59952
DRP2 dystrophin related protein 2 0.59874
CAPN3 calpain 3, (p94) 0.597961
STAU2 staufen double-stranded RNA binding protein 2 0.597181
CALD1 caldesmon 1 0.583941
APOA1BP apolipoprotein A-I binding protein 0.58005
ZFX zinc finger protein, X-linked 0.58005
ACYP2 acylphosphatase 2, muscle type 0.574994
MRI1 methylthioribose-1-phosphate isomerase 1 0.574605
TMEM26 transmembrane protein 26 0.573439
MYL6B myosin, light chain 6B, alkali, smooth muscle and non-muscle 0.566831
ACE angiotensin I converting enzyme 0.563723
RAB4A RAB4A, member RAS oncogene family 0.559062
SLN sarcolipin 0.556344
SPP1 secreted phosphoprotein 1 0.553239
MYH1 myosin, heavy chain 1, skeletal muscle, adult 0.551686
ZFY zinc finger protein, Y-linked 0.550911
CAST calpastatin 0.549747
DCTN3 dynactin 3 (p22) 0.546644
GPHN gephyrin 0.544705
SAMD4A sterile alpha motif domain containing 4A 0.52343
CNR2 cannabinoid receptor 2 (macrophage) 0.519961
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 0.518034
CALM3 calmodulin 3 (phosphorylase kinase, delta) 0.517649
CALM2 calmodulin 2 (phosphorylase kinase, delta) 0.517265
RYR1 ryanodine receptor 1 (skeletal) 0.51188
CALM1 calmodulin 1 (phosphorylase kinase, delta) 0.511496
PLS1 plastin 1 0.509576
SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 0.509576
FBXO32 F-box protein 32 0.504973
CS citrate synthase 0.503441
CTBP2 C-terminal binding protein 2 0.495029
ACTN2 actinin, alpha 2 0.489691
SYNM synemin, intermediate filament protein 0.48893
KEL Kell blood group, metallo-endopeptidase 0.487407
SEPT12 septin 12 0.478289
MMP9 matrix metallopeptidase 9 0.465794
CTGF connective tissue growth factor 0.463527
ZNF91 zinc finger protein 91 0.461261
IL1RAPL1 interleukin 1 receptor accessory protein-like 1 0.460506
SRY sex determining region Y 0.456732
PROM1 prominin 1 0.449571
BGN biglycan 0.442418
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.435275
COL6A3 collagen, type VI, alpha 3 0.434899
ITGA7 integrin, alpha 7 0.423265
MYL2 myosin, light chain 2, regulatory, cardiac, slow 0.421765
PLN phospholamban 0.420641
TMSB4X thymosin beta 4, X-linked 0.416147
NRIP1 nuclear receptor interacting protein 1 0.415773
ORAI1 ORAI calcium release-activated calcium modulator 1 0.410161
GPX1 glutathione peroxidase 1 0.406798
DYNLT3 dynein, light chain, Tctex-type 3 0.403438
HPX hemopexin 0.400453
TRPM4 transient receptor potential cation channel, subfamily M, member 4 0.399334
VBP1 von Hippel-Lindau binding protein 1 0.396725
TNNI3 troponin I type 3 (cardiac) 0.392629
TRIP6 thyroid hormone receptor interactor 6 0.390397
GPX5 glutathione peroxidase 5 0.385936
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 0.385193
GPX4 glutathione peroxidase 4 0.382966
ACHE acetylcholinesterase (Yt blood group) 0.380739
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 0.379256
PPIF peptidylprolyl isomerase F 0.369258
ACTC1 actin, alpha, cardiac muscle 1 0.36741
AATF apoptosis antagonizing transcription factor 0.36704
MMP2 matrix metallopeptidase 2 0.364085
TJP1 tight junction protein 1 0.359289
SIRT1 sirtuin 1 0.358551
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 0.353027
ST14 suppression of tumorigenicity 14 (colon carcinoma) 0.352659
MBNL3 muscleblind-like splicing regulator 3 0.35082
TLN2 talin 2 0.349349
MIR31 microRNA 31 0.348981
ENO3 enolase 3 (beta, muscle) 0.347879
LY6D lymphocyte antigen 6 complex, locus D 0.343473
MIR133B microRNA 133b 0.342372
F8A1 coagulation factor VIII-associated 1 0.341272
F8A2 coagulation factor VIII-associated 2 0.341272
HOMER2 homer scaffolding protein 2 0.337608
TMOD1 tropomodulin 1 0.33651
CD4 CD4 molecule 0.333949
MEF2C myocyte enhancer factor 2C 0.333583
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 0.333583
THBS4 thrombospondin 4 0.331391
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 0.33066
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.325916
MYBPC1 myosin binding protein C, slow type 0.322273
TMOD3 tropomodulin 3 (ubiquitous) 0.318272
PRF1 perforin 1 (pore forming protein) 0.317182
BPGM 2,3-bisphosphoglycerate mutase 0.316819
PGAM2 phosphoglycerate mutase 2 (muscle) 0.314278
FGF2 fibroblast growth factor 2 (basic) 0.307033
EMD emerin 0.304864
SRPX sushi-repeat containing protein, X-linked 0.304503
LDHAL6B lactate dehydrogenase A-like 6B 0.304503
RHCE Rh blood group, CcEe antigens 0.295851
CLIC2 chloride intracellular channel 2 0.294413
FN1 fibronectin 1 0.293694
KCNRG potassium channel regulator 0.29118
RAB40AL RAB40A, member RAS oncogene family-like 0.289386
NES nestin 0.287952
MFAP5 microfibrillar associated protein 5 0.287593
TCAP titin-cap 0.284013
RNF11 ring finger protein 11 0.279011
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 0.279011
RPS4Y1 ribosomal protein S4, Y-linked 1 0.279011
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 0.277584
AK1 adenylate kinase 1 0.27687
PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) 0.273308
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.271886
GABARAPL1 GABA(A) receptor-associated protein like 1 0.269753
SUN1 Sad1 and UNC84 domain containing 1 0.265494
GCOM1 GRINL1A complex locus 1 0.264431
TNNT2 troponin T type 2 (cardiac) 0.261599
STS steroid sulfatase (microsomal), isozyme S 0.261245
PGAM1 phosphoglycerate mutase 1 (brain) 0.25983
NOTCH1 notch 1 0.25877
PVALB parvalbumin 0.258064
CHURC1 churchill domain containing 1 0.257005
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.255594
PPP1R10 protein phosphatase 1, regulatory subunit 10 0.255241
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 0.255241
TPD52L3 tumor protein D52-like 3 0.253479
DNM3 dynamin 3 0.253127
LDHAL6A lactate dehydrogenase A-like 6A 0.24996
A1CF APOBEC1 complementation factor 0.248905
STAU1 staufen double-stranded RNA binding protein 1 0.248905
TMOD4 tropomodulin 4 (muscle) 0.248554
PLAU plasminogen activator, urokinase 0.248203
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.246448
TNF tumor necrosis factor 0.245396
DDX3Y DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked 0.243995
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 0.240148
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 0.238403
MBNL2 muscleblind-like splicing regulator 2 0.236312
AMPD1 adenosine monophosphate deaminase 1 0.234573
PAX3 paired box 3 0.234225
NLGN2 neuroligin 2 0.23353
G6PD glucose-6-phosphate dehydrogenase 0.231795
SIVA1 SIVA1, apoptosis-inducing factor 0.229024
ACTG1 actin gamma 1 0.227297
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0.225229
ANK1 ankyrin 1, erythrocytic 0.224196
MYOCD myocardin 0.223853
CXADR coxsackie virus and adenovirus receptor 0.219057
TRPC3 transient receptor potential cation channel, subfamily C, member 3 0.218374
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8 0.217693
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase 0.217352
AKAP1 A kinase (PRKA) anchor protein 1 0.213283
DOCK3 dedicator of cytokinesis 3 0.212945
RPS6 ribosomal protein S6 0.211934
CFL2 cofilin 2 (muscle) 0.210253
FOXI1 forkhead box I1 0.209248
SHOX short stature homeobox 0.207578
HLA-E major histocompatibility complex, class I, E 0.205916
SRL sarcalumenin 0.205585
TRA2B transformer 2 beta homolog (Drosophila) 0.205254
WNT2 wingless-type MMTV integration site family member 2 0.204923
FBXO11 F-box protein 11 0.204593
SOD2 superoxide dismutase 2, mitochondrial 0.204593
ACTR2 ARP2 actin-related protein 2 homolog (yeast) 0.204593
ADAM12 ADAM metallopeptidase domain 12 0.203275
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 0.200982
QDPR quinoid dihydropteridine reductase 0.197742
GLRA2 glycine receptor, alpha 2 0.19742
RNF25 ring finger protein 25 0.196139
HTN3 histatin 3 0.195501
XK X-linked Kx blood group 0.195183
ILK integrin-linked kinase 0.192344
NOS3 nitric oxide synthase 3 (endothelial cell) 0.192031
HDAC2 histone deacetylase 2 0.187415
ACSL4 acyl-CoA synthetase long-chain family member 4 0.18621
PGC progastricsin (pepsinogen C) 0.185016
HDAC9 histone deacetylase 9 0.184128
MBTPS1 membrane-bound transcription factor peptidase, site 1 0.183835
CD151 CD151 molecule (Raph blood group) 0.183835
RHD Rh blood group, D antigen 0.182957
GYG1 glycogenin 1 0.180652
PGK1 phosphoglycerate kinase 1 0.180367
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 0.180367
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 0.178403
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 0.176757
TPM1 tropomyosin 1 (alpha) 0.176215
CD68 CD68 molecule 0.175947
NPPB natriuretic peptide B 0.175411
NCAM1 neural cell adhesion molecule 1 0.174354
SRSF5 serine/arginine-rich splicing factor 5 0.173832
KCNIP4 Kv channel interacting protein 4 0.173832
ACTB actin, beta 0.173057
LOX lysyl oxidase 0.172799
DUSP10 dual specificity phosphatase 10 0.171036
SMN2 survival of motor neuron 2, centromeric 0.171036
AKTIP AKT interacting protein 0.170789
CD276 CD276 molecule 0.170789
ZKSCAN7 zinc finger with KRAB and SCAN domains 7 0.170054
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase 0.169812
MAP1B microtubule-associated protein 1B 0.168381
CELF2 CUGBP, Elav-like family member 2 0.165217
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 0.164359
ALPP alkaline phosphatase, placental 0.164149
TEAD2 TEA domain family member 2 0.163729
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 0.163523
PYGB phosphorylase, glycogen; brain 0.162109
GZMA granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 0.162109
PYGL phosphorylase, glycogen, liver 0.160574
FKBP1A FK506 binding protein 1A, 12kDa 0.160203