central core myopathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3529)
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Genes

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

Symbol Name Standardized Value
RYR1 ryanodine receptor 1 (skeletal) 3.37922
SEPN1 selenoprotein N, 1 1.90242
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 1.89036
RYR2 ryanodine receptor 2 (cardiac) 1.86049
FKBP1A FK506 binding protein 1A, 12kDa 1.30576
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) 1.28916
RYR3 ryanodine receptor 3 1.20656
CASQ2 calsequestrin 2 (cardiac muscle) 1.18841
MTM1 myotubularin 1 1.18626
NEB nebulin 1.14942
QDPR quinoid dihydropteridine reductase 1.14136
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 1.12698
ACTA1 actin, alpha 1, skeletal muscle 1.05723
MYH4 myosin, heavy chain 4, skeletal muscle 0.97254
MYH7 myosin, heavy chain 7, cardiac muscle, beta 0.967921
ADGRG2 adhesion G protein-coupled receptor G2 0.938289
TRDN triadin 0.918436
TFDP3 transcription factor Dp family, member 3 0.909376
DNAH8 dynein, axonemal, heavy chain 8 0.901978
TPM3 tropomyosin 3 0.854449
MYOT myotilin 0.839296
TPM2 tropomyosin 2 (beta) 0.825768
MMD monocyte to macrophage differentiation-associated 0.812232
CYP2F1 cytochrome P450, family 2, subfamily F, polypeptide 1 0.790902
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.783936
HLF hepatic leukemia factor 0.749237
SRL sarcalumenin 0.74436
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 0.735027
TMEM70 transmembrane protein 70 0.734622
SLN sarcolipin 0.724502
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) 0.641039
MYOD1 myogenic differentiation 1 0.557509
HRC histidine rich calcium binding protein 0.546256
CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 0.540829
FKTN fukutin 0.528063
SNRPA small nuclear ribonucleoprotein polypeptide A 0.525746
FLNC filamin C, gamma 0.498085
PLN phospholamban 0.482084
TNNT1 troponin T type 1 (skeletal, slow) 0.474877
LAMA2 laminin, alpha 2 0.446182
SHC2 SHC (Src homology 2 domain containing) transforming protein 2 0.442795
AMPD1 adenosine monophosphate deaminase 1 0.421765
CALM3 calmodulin 3 (phosphorylase kinase, delta) 0.419892
CALM2 calmodulin 2 (phosphorylase kinase, delta) 0.419517
CALM1 calmodulin 1 (phosphorylase kinase, delta) 0.413901
DNM2 dynamin 2 0.374438
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.365932
ASPH aspartate beta-hydroxylase 0.356341
PYGB phosphorylase, glycogen; brain 0.333218
PYGL phosphorylase, glycogen, liver 0.32993
TPM1 tropomyosin 1 (alpha) 0.32993
PYGM phosphorylase, glycogen, muscle 0.304864
NID1 nidogen 1 0.280082
CANX calnexin 0.248554
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 0.237009
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 0.223509
DMD dystrophin 0.213283
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 0.212945
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 0.203933
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0.195501
C1QBP complement component 1, q subcomponent binding protein 0.17896
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.177301
PI3 peptidase inhibitor 3, skin-derived 0.167682