nemaline myopathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. (Human Disease Ontology, DOID_3191)
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Genes

59 genes co-occuring with the disease nemaline myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
NEB nebulin 3.05758
ACTA1 actin, alpha 1, skeletal muscle 2.64091
TPM3 tropomyosin 3 2.48953
TPM2 tropomyosin 2 (beta) 2.45277
TPM1 tropomyosin 1 (alpha) 2.32362
CFL2 cofilin 2 (muscle) 2.13466
TNNT1 troponin T type 1 (skeletal, slow) 2.03876
KBTBD13 kelch repeat and BTB (POZ) domain containing 13 1.84227
LMOD3 leiomodin 3 (fetal) 1.71408
C16ORF82 chromosome 16 open reading frame 82 1.51984
SEPN1 selenoprotein N, 1 1.46363
MYOT myotilin 1.41972
MYPN myopalladin 1.29003
TNNI2 troponin I type 2 (skeletal, fast) 1.13543
ACTC1 actin, alpha, cardiac muscle 1 1.12741
TNNT3 troponin T type 3 (skeletal, fast) 1.10426
ACTN2 actinin, alpha 2 1.01596
RYR1 ryanodine receptor 1 (skeletal) 0.958287
KLHL2 kelch-like family member 2 0.93207
MTM1 myotubularin 1 0.896641
TNNT2 troponin T type 2 (cardiac) 0.876966
TTN titin 0.864684
TNNI1 troponin I type 1 (skeletal, slow) 0.839705
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 0.811411
TCAP titin-cap 0.786803
CHRNG cholinergic receptor, nicotinic, gamma (muscle) 0.745985
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal 0.729762
CFL1 cofilin 1 (non-muscle) 0.718846
NEXN nexilin (F actin binding protein) 0.660404
DSTN destrin (actin depolymerizing factor) 0.630813
CRYAB crystallin, alpha B 0.59991
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) 0.593285
GLE1 GLE1 RNA export mediator 0.585108
MYF6 myogenic factor 6 (herculin) 0.545481
CHRND cholinergic receptor, nicotinic, delta (muscle) 0.545093
HRAS Harvey rat sarcoma viral oncogene homolog 0.535409
DMD dystrophin 0.519961
ZYX zyxin 0.485505
PALLD palladin, cytoskeletal associated protein 0.476393
DNAH8 dynein, axonemal, heavy chain 8 0.455224
LAMA2 laminin, alpha 2 0.416896
RAPSN receptor-associated protein of the synapse 0.412031
VCL vinculin 0.408666
FHL1 four and a half LIM domains 1 0.393001
CUL3 cullin 3 0.37555
APOA2 apolipoprotein A-II 0.345308
MYL2 myosin, light chain 2, regulatory, cardiac, slow 0.343473
ENDOG endonuclease G 0.332852
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) 0.328105
NEFL neurofilament, light polypeptide 0.32701
DES desmin 0.254183
MCOLN1 mucolipin 1 0.254183
FLNC filamin C, gamma 0.236312
SRF serum response factor (c-fos serum response element-binding transcription factor) 0.235616
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 0.223853
CKM creatine kinase, muscle 0.204263
LAX1 lymphocyte transmembrane adaptor 1 0.186811
PAX7 paired box 7 0.170299
CAPN3 calpain 3, (p94) 0.165874