limb-girdle 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 is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. (Human Disease Ontology, DOID_11724)
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Genes

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

Symbol Name Standardized Value
DYSF dysferlin 3.03793
CAPN3 calpain 3, (p94) 2.9914
FKRP fukutin related protein 2.60914
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 2.52439
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 2.40931
CAV3 caveolin 3 2.38351
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 2.33704
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 2.23832
ANO5 anoctamin 5 2.15251
DMD dystrophin 1.95488
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 1.87285
TRIM32 tripartite motif containing 32 1.86141
MYOT myotilin 1.85821
LMNA lamin A/C 1.83682
TTN titin 1.72593
MYOF myoferlin 1.68906
POMT1 protein-O-mannosyltransferase 1 1.62873
FKTN fukutin 1.61486
EMD emerin 1.55779
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 1.52688
SSPN sarcospan 1.45353
TCAP titin-cap 1.42323
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.39127
POMT2 protein-O-mannosyltransferase 2 1.34766
LAMA2 laminin, alpha 2 1.31712
AHNAK AHNAK nucleoprotein 1.31581
SGCE sarcoglycan, epsilon 1.29527
MSTN myostatin 1.09545
MYOZ1 myozenin 1 1.04209
SIMC1 SUMO-interacting motifs containing 1 1.03872
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase 1.01259
PARVB parvin, beta 0.921323
FLNC filamin C, gamma 0.88516
MLIP muscular LMNA-interacting protein 0.879424
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.878195
FAM65B family with sequence similarity 65, member B 0.871234
PDLIM3 PDZ and LIM domain 3 0.854859
COL6A2 collagen, type VI, alpha 2 0.849536
FBXO40 F-box protein 40 0.831508
BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 0.830689
MYOD1 myogenic differentiation 1 0.826999
YARS tyrosyl-tRNA synthetase 0.823308
MYOG myogenin (myogenic factor 4) 0.815514
SDK2 sidekick cell adhesion molecule 2 0.814283
UTRN utrophin 0.768801
PARK2 parkin RBR E3 ubiquitin protein ligase 0.745985
CAPN2 calpain 2, (m/II) large subunit 0.725716
SYT3 synaptotagmin III 0.721673
SYTL2 synaptotagmin-like 2 0.71925
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) 0.703938
NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa 0.700722
ISPD isoprenoid synthase domain containing 0.699517
OBSL1 obscurin-like 1 0.685091
COL6A3 collagen, type VI, alpha 3 0.67312
TNPO3 transportin 3 0.659611
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 0.630027
QDPR quinoid dihydropteridine reductase 0.621792
GMPPB GDP-mannose pyrophosphorylase B 0.611229
CMAHP cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene 0.608104
RPS14 ribosomal protein S14 0.597181
OTOF otoferlin 0.594454
MYPN myopalladin 0.593674
VCP valosin containing protein 0.593285
ITGB1BP2 integrin beta 1 binding protein (melusin) 2 0.58433
NDFIP1 Nedd4 family interacting protein 1 0.581606
CMYA5 cardiomyopathy associated 5 0.574605
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase 0.574605
PTRF polymerase I and transcript release factor 0.55712
IPO13 importin 13 0.556732
MMD2 monocyte to macrophage differentiation-associated 2 0.556732
CAPN9 calpain 9 0.556344
ANK1 ankyrin 1, erythrocytic 0.554403
ZNF202 zinc finger protein 202 0.550134
ZFP64 ZFP64 zinc finger protein 0.541605
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 0.529608
SLMAP sarcolemma associated protein 0.523816
CAPN10 calpain 10 0.518034
COL6A1 collagen, type VI, alpha 1 0.51534
ANO2 anoctamin 2, calcium activated chloride channel 0.514571
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.50459
MYOZ2 myozenin 2 0.485505
MYL1 myosin, light chain 1, alkali; skeletal, fast 0.482844
SF1 splicing factor 1 0.476393
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 0.46655
LY86 lymphocyte antigen 86 0.460506
RCN1 reticulocalbin 1, EF-hand calcium binding domain 0.454093
PAX7 paired box 7 0.450324
SPATA18 spermatogenesis associated 18 0.442418
KTN1 kinectin 1 (kinesin receptor) 0.440538
MYOCD myocardin 0.436402
MYOM2 myomesin 2 0.431144
ABRA actin binding Rho activating protein 0.428516
GPX7 glutathione peroxidase 7 0.418019
RAB4A RAB4A, member RAS oncogene family 0.41727
DCTN1 dynactin 1 0.415024
NEB nebulin 0.413901
MYF5 myogenic factor 5 0.409787
WWP1 WW domain containing E3 ubiquitin protein ligase 1 0.398589
SLN sarcolipin 0.397843
CAPN5 calpain 5 0.396725
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 0.387051
GYLTL1B glycosyltransferase-like 1B 0.381481
KCNIP4 Kv channel interacting protein 4 0.377031
LTBP4 latent transforming growth factor beta binding protein 4 0.372587
RAB2A RAB2A, member RAS oncogene family 0.369258
SNTA1 syntrophin, alpha 1 0.353763
ACTN2 actinin, alpha 2 0.350084
MGAT4C MGAT4 family, member C 0.347511
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.34384
MEF2C myocyte enhancer factor 2C 0.342739
FRG1 FSHD region gene 1 0.339806
LMNB1 lamin B1 0.328834
CAV1 caveolin 1, caveolae protein, 22kDa 0.305587
GANC glucosidase, alpha; neutral C 0.303781
GLG1 golgi glycoprotein 1 0.299812
LMNB2 lamin B2 0.292975
MEF2D myocyte enhancer factor 2D 0.290103
IL32 interleukin 32 0.289386
MYH2 myosin, heavy chain 2, skeletal muscle, adult 0.279724
SNORA29 small nucleolar RNA, H/ACA box 29 0.265494
ELAVL4 ELAV like neuron-specific RNA binding protein 4 0.265494
THOP1 thimet oligopeptidase 1 0.265494
CTBP1 C-terminal binding protein 1 0.25983
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 0.258064
ADRA1B adrenoceptor alpha 1B 0.256299
SYVN1 synovial apoptosis inhibitor 1, synoviolin 0.256299
NUP153 nucleoporin 153kDa 0.250663
LDB3 LIM domain binding 3 0.249608
RAN RAN, member RAS oncogene family 0.248203
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.243995
ADAM28 ADAM metallopeptidase domain 28 0.23492
ACTC1 actin, alpha, cardiac muscle 1 0.23353
TRDN triadin 0.223165
ARHGDIB Rho GDP dissociation inhibitor (GDI) beta 0.219398
FST follistatin 0.215653
SUMO3 small ubiquitin-like modifier 3 0.214636
PALLD palladin, cytoskeletal associated protein 0.213283
DAD1 defender against cell death 1 0.208914
SEPN1 selenoprotein N, 1 0.20658
CLCA4 chloride channel accessory 4 0.205254
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) 0.204263
GAMT guanidinoacetate N-methyltransferase 0.20229
SUMO2 small ubiquitin-like modifier 2 0.199356
ELAVL2 ELAV like neuron-specific RNA binding protein 2 0.189244
PIAS3 protein inhibitor of activated STAT, 3 0.186811
PLEC plectin 0.185612
CRYAB crystallin, alpha B 0.185612
ANXA1 annexin A1 0.182375
HMMR hyaluronan-mediated motility receptor (RHAMM) 0.180937
MKL1 megakaryoblastic leukemia (translocation) 1 0.174881
CLCA2 chloride channel accessory 2 0.172291
VCL vinculin 0.172291
ACADVL acyl-CoA dehydrogenase, very long chain 0.170299
SOX1 SRY (sex determining region Y)-box 1 0.161716
KIF21A kinesin family member 21A 0.161331
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 0.161139
ALDOA aldolase A, fructose-bisphosphate 0.160948
FMN1 formin 1 0.159658
ELOVL4 ELOVL fatty acid elongase 4 0.159124
TPM2 tropomyosin 2 (beta) 0.158778