centronuclear myopathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. (Human Disease Ontology, DOID_14717)
Similar Terms
Downloads & Tools

Genes

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

Symbol Name Standardized Value
MTM1 myotubularin 1 3.99468
DNM2 dynamin 2 2.34943
BIN1 bridging integrator 1 2.1387
MTMR1 myotubularin related protein 1 2.10138
MTMR2 myotubularin related protein 2 2.05585
MTMR14 myotubularin related protein 14 1.91173
SBF1 SET binding factor 1 1.78489
AMPH amphiphysin 1.75323
HACD1 3-hydroxyacyl-CoA dehydratase 1 1.74506
MTMR3 myotubularin related protein 3 1.7396
SBF2 SET binding factor 2 1.67367
MTMR6 myotubularin related protein 6 1.54584
PLEK pleckstrin 1.38341
PTPMT1 protein tyrosine phosphatase, mitochondrial 1 1.34461
RYR1 ryanodine receptor 1 (skeletal) 1.26865
MTMR12 myotubularin related protein 12 1.26603
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3 1.15368
UBL4A ubiquitin-like 4A 1.02819
ACVR2B activin A receptor, type IIB 0.979268
PI3 peptidase inhibitor 3, skin-derived 0.925452
FIG4 FIG4 phosphoinositide 5-phosphatase 0.863456
MTMR11 myotubularin related protein 11 0.861818
PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4 0.817976
MAP7 microtubule-associated protein 7 0.790081
WIPI1 WD repeat domain, phosphoinositide interacting 1 0.779841
SEPN1 selenoprotein N, 1 0.770027
PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 0.766351
MAMLD1 mastermind-like domain containing 1 0.745985
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 0.730976
TTN titin 0.708767
PTPN3 protein tyrosine phosphatase, non-receptor type 3 0.686691
SPEG SPEG complex locus 0.683493
ACTR2 ARP2 actin-related protein 2 homolog (yeast) 0.654067
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 0.648928
QDPR quinoid dihydropteridine reductase 0.645375
ST14 suppression of tumorigenicity 14 (colon carcinoma) 0.597571
EPS8 epidermal growth factor receptor pathway substrate 8 0.589001
LAMA2 laminin, alpha 2 0.581217
LAMA5 laminin, alpha 5 0.580828
EEF2K eukaryotic elongation factor 2 kinase 0.570329
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) 0.554015
FAM167A family with sequence similarity 167, member A 0.542379
TPM3 tropomyosin 3 0.541605
MBNL1 muscleblind-like splicing regulator 1 0.538506
CCNT1 cyclin T1 0.527676
MYOG myogenin (myogenic factor 4) 0.52343
INPP5A inositol polyphosphate-5-phosphatase, 40kDa 0.516879
SPTB spectrin, beta, erythrocytic 0.503824
PTS 6-pyruvoyltetrahydropterin synthase 0.480566
PTPN12 protein tyrosine phosphatase, non-receptor type 12 0.472604
PTPRD protein tyrosine phosphatase, receptor type, D 0.466172
ACTA1 actin, alpha 1, skeletal muscle 0.457864
SRPK3 SRSF protein kinase 3 0.437154
DNM1 dynamin 1 0.418019
ULK1 unc-51 like autophagy activating kinase 1 0.399334
DMD dystrophin 0.393374
MYOT myotilin 0.393001
TNNT1 troponin T type 1 (skeletal, slow) 0.391141
SLC25A17 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 0.37592
TPM2 tropomyosin 2 (beta) 0.364824
CCNE2 cyclin E2 0.358183
EEA1 early endosome antigen 1 0.340173
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.337608
GAA glucosidase, alpha; acid 0.32774
KIF5B kinesin family member 5B 0.324823
YAP1 Yes-associated protein 1 0.30631
DNAH8 dynein, axonemal, heavy chain 8 0.296571
CDK9 cyclin-dependent kinase 9 0.295132
NEB nebulin 0.290103
MYF5 myogenic factor 5 0.28616
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4 0.274021
CLCN1 chloride channel, voltage-sensitive 1 0.258417
PTEN phosphatase and tensin homolog 0.244696
CNBP CCHC-type zinc finger, nucleic acid binding protein 0.204923
SRF serum response factor (c-fos serum response element-binding transcription factor) 0.174617
SCN4A sodium channel, voltage gated, type IV alpha subunit 0.161523