myotonic disease 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 progressive muscle wasting and weakness. (Human Disease Ontology, DOID_450)
Similar Terms
Downloads & Tools

Genes

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

Symbol Name Standardized Value
DMPK dystrophia myotonica-protein kinase 3.49237
MBNL1 muscleblind-like splicing regulator 1 3.0296
CNBP CCHC-type zinc finger, nucleic acid binding protein 2.90639
CLCN1 chloride channel, voltage-sensitive 1 2.72061
CELF1 CUGBP, Elav-like family member 1 2.52493
SIX5 SIX homeobox 5 2.16132
MBNL2 muscleblind-like splicing regulator 2 2.00148
APOC2 apolipoprotein C-II 1.97644
DMWD dystrophia myotonica, WD repeat containing 1.86964
SCN4A sodium channel, voltage gated, type IV alpha subunit 1.7118
MBNL3 muscleblind-like splicing regulator 3 1.70952
CEBPD CCAAT/enhancer binding protein (C/EBP), delta 1.59251
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 1.49921
CDC42 cell division cycle 42 1.37381
MTMR1 myotubularin related protein 1 1.29658
INSR insulin receptor 1.2861
AFF2 AF4/FMR2 family, member 2 1.23039
ELAVL4 ELAV like neuron-specific RNA binding protein 4 1.16521
C10ORF2 chromosome 10 open reading frame 2 1.16136
NEK6 NIMA-related kinase 6 1.11814
FEN1 flap structure-specific endonuclease 1 1.08999
HSPB2 heat shock 27kDa protein 2 1.07572
ELAVL2 ELAV like neuron-specific RNA binding protein 2 1.07068
RYR1 ryanodine receptor 1 (skeletal) 1.05976
YIPF7 Yip1 domain family, member 7 1.05639
CELF2 CUGBP, Elav-like family member 2 1.04672
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3 1.04462
CDC42BPA CDC42 binding protein kinase alpha (DMPK-like) 1.04167
TXLNB taxilin beta 1.03956
MYOD1 myogenic differentiation 1 1.03746
INS insulin 1.03156
CELF4 CUGBP, Elav-like family member 4 1.01976
ZNF37A zinc finger protein 37A 1.01216
DMD dystrophin 1.00541
MYOG myogenin (myogenic factor 4) 1.00372
CKM creatine kinase, muscle 0.986849
MTM1 myotubularin 1 0.976744
PRKCG protein kinase C, gamma 0.96918
MSH3 mutS homolog 3 0.960378
DNAH8 dynein, axonemal, heavy chain 8 0.941196
AR androgen receptor 0.915139
CDC42BPG CDC42 binding protein kinase gamma (DMPK-like) 0.910199
HKR1 HKR1, GLI-Kruppel zinc finger family member 0.903621
ERCC1 excision repair cross-complementation group 1 0.898282
BIN1 bridging integrator 1 0.888029
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 0.874919
BCAM basal cell adhesion molecule (Lutheran blood group) 0.874919
ELAVL3 ELAV like neuron-specific RNA binding protein 3 0.867549
MEF2A myocyte enhancer factor 2A 0.861409
ZNF274 zinc finger protein 274 0.857315
AMPD1 adenosine monophosphate deaminase 1 0.857315
CIT citron rho-interacting serine/threonine kinase 0.853221
TNNT2 troponin T type 2 (cardiac) 0.837246
DDX5 DEAD (Asp-Glu-Ala-Asp) box helicase 5 0.772887
ATXN3 ataxin 3 0.757786
MSH2 mutS homolog 2 0.757378
C9ORF72 chromosome 9 open reading frame 72 0.756156
MAPT microtubule-associated protein tau 0.755342
ELAVL1 ELAV like RNA binding protein 1 0.75412
PEPD peptidase D 0.742329
RSPH6A radial spoke head 6 homolog A (Chlamydomonas) 0.733001
RIPK4 receptor-interacting serine-threonine kinase 4 0.732191
ZCCHC11 zinc finger, CCHC domain containing 11 0.713601
TNNT3 troponin T type 3 (skeletal, fast) 0.713601
CLSPN claspin 0.705144
U2AF2 U2 small nuclear RNA auxiliary factor 2 0.704742
SNRPA small nuclear ribonucleoprotein polypeptide A 0.702732
RAB4A RAB4A, member RAS oncogene family 0.701526
CST7 cystatin F (leukocystatin) 0.687091
DMAP1 DNA methyltransferase 1 associated protein 1 0.678302
NAV1 neuron navigator 1 0.67551
LDB3 LIM domain binding 3 0.674713
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.665166
PCBP2 poly(rC) binding protein 2 0.648533
ZNF3 zinc finger protein 3 0.648138
SAMD4A sterile alpha motif domain containing 4A 0.630027
CASQ2 calsequestrin 2 (cardiac muscle) 0.630027
ZNF711 zinc finger protein 711 0.619442
FRG1 FSHD region gene 1 0.619051
CTCF CCCTC-binding factor (zinc finger protein) 0.617094
MAB21L1 mab-21-like 1 (C. elegans) 0.616312
SSBP3 single stranded DNA binding protein 3 0.612011
FKTN fukutin 0.608885
SAR1A secretion associated, Ras related GTPase 1A 0.605762
CRYAB crystallin, alpha B 0.604981
RAP2B RAP2B, member of RAS oncogene family 0.60225
RAB1B RAB1B, member RAS oncogene family 0.59874
TTN titin 0.590558
MYEF2 myelin expression factor 2 0.589779
ARF3 ADP-ribosylation factor 3 0.585108
MTMR14 myotubularin related protein 14 0.581996
FGD5 FYVE, RhoGEF and PH domain containing 5 0.578494
ZNF501 zinc finger protein 501 0.575772
ZNF629 zinc finger protein 629 0.575772
KLK1 kallikrein 1 0.575772
ZNF763 zinc finger protein 763 0.575772
ZNF569 zinc finger protein 569 0.575772
APOC1 apolipoprotein C-I 0.575383
FMR1 fragile X mental retardation 1 0.567609
ZNF44 zinc finger protein 44 0.562558
PPFIA3 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 0.560616
TRH thyrotropin-releasing hormone 0.55945
TIPIN TIMELESS interacting protein 0.55945
SRSF7 serine/arginine-rich splicing factor 7 0.554403
DICER1 dicer 1, ribonuclease type III 0.552075
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 0.550522
BCL6B B-cell CLL/lymphoma 6, member B 0.546256
MT-ATP8 ATP synthase F0 subunit 8 0.545481
MYO18A myosin XVIIIA 0.544705
RSPH4A radial spoke head 4 homolog A (Chlamydomonas) 0.52536
HRC histidine rich calcium binding protein 0.521502
CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 0.51611
DDX17 DEAD (Asp-Glu-Ala-Asp) box helicase 17 0.513033
POMC proopiomelanocortin 0.510344
ZKSCAN7 zinc finger with KRAB and SCAN domains 7 0.509959
MYOM1 myomesin 1 0.505739
PLEK pleckstrin 0.499997
HTT huntingtin 0.493503
AMPH amphiphysin 0.487407
MSH6 mutS homolog 6 0.479807
MIR133B microRNA 133b 0.477909
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.471846
MEF2C myocyte enhancer factor 2C 0.468441
TNNT1 troponin T type 1 (skeletal, slow) 0.467306
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) 0.466172
ZNF436 zinc finger protein 436 0.463527
GPR4 G protein-coupled receptor 4 0.459373
MAP7 microtubule-associated protein 7 0.458241
NDP Norrie disease (pseudoglioma) 0.456732
ZFP64 ZFP64 zinc finger protein 0.456355
HCRT hypocretin (orexin) neuropeptide precursor 0.450701
SIX4 SIX homeobox 4 0.448064
SRA1 steroid receptor RNA activator 1 0.4443
CA3 carbonic anhydrase III 0.443923
EMD emerin 0.439034
TPRG1L tumor protein p63 regulated 1-like 0.434148
FRG2 FSHD region gene 2 0.433772
CRH corticotropin releasing hormone 0.433021
TACC2 transforming, acidic coiled-coil containing protein 2 0.432646
RPL14 ribosomal protein L14 0.432646
TMEM185A transmembrane protein 185A 0.431519
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) 0.430393
PABPN1 poly(A) binding protein, nuclear 1 0.429266
GGT1 gamma-glutamyltransferase 1 0.428516
PDLIM3 PDZ and LIM domain 3 0.424389
CLCN3 chloride channel, voltage-sensitive 3 0.418019
STAU1 staufen double-stranded RNA binding protein 1 0.413527
SARNP SAP domain containing ribonucleoprotein 0.40904
SRSF9 serine/arginine-rich splicing factor 9 0.397843
FCGRT Fc fragment of IgG, receptor, transporter, alpha 0.397471
APOE apolipoprotein E 0.392257
SP1 Sp1 transcription factor 0.387423
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3 0.386679
TYRO3 TYRO3 protein tyrosine kinase 0.382966
EPB41 erythrocyte membrane protein band 4.1 0.381852
HSPB6 heat shock protein, alpha-crystallin-related, B6 0.38111
SCN3A sodium channel, voltage gated, type III alpha subunit 0.379997
CCND3 cyclin D3 0.379256
ADO 2-aminoethanethiol (cysteamine) dioxygenase 0.376661
AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase 0.37555
IGF1 insulin-like growth factor 1 (somatomedin C) 0.373698
CDK20 cyclin-dependent kinase 20 0.370368
PPFIA1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 0.365932
DNM2 dynamin 2 0.358183
PTBP1 polypyrimidine tract binding protein 1 0.351923
CRYM crystallin, mu 0.349717
CLCNKA chloride channel, voltage-sensitive Ka 0.348246
ROCK2 Rho-associated, coiled-coil containing protein kinase 2 0.347511
MYF5 myogenic factor 5 0.344207
HLF hepatic leukemia factor 0.337975
TSPAN1 tetraspanin 1 0.332852
DTNA dystrobrevin, alpha 0.332487
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 0.325552
MB myoglobin 0.321181
MIR181C microRNA 181c 0.320817
PSD pleckstrin and Sec7 domain containing 0.320817
DYM dymeclin 0.318635
SRSF2 serine/arginine-rich splicing factor 2 0.317182
MEGF6 multiple EGF-like-domains 6 0.315729
XPO5 exportin 5 0.312464
CLCNKB chloride channel, voltage-sensitive Kb 0.311377
JPH3 junctophilin 3 0.30848
MNX1 motor neuron and pancreas homeobox 1 0.307395
SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 0.305587
DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6 0.300173
MORF4 mortality factor 4 (pseudogene) 0.300173
FRG2B FSHD region gene 2 family, member B 0.298371
SIRPA signal-regulatory protein alpha 0.295851
PLN phospholamban 0.294413
RP9 retinitis pigmentosa 9 (autosomal dominant) 0.294053
LARGE like-glycosyltransferase 0.291539
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 0.290103
KIAA1109 KIAA1109 0.285444
MAP6 microtubule-associated protein 6 0.285086
PYY peptide YY 0.281153
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 0.278654
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 0.278297
IGFBP3 insulin-like growth factor binding protein 3 0.277584
LRPPRC leucine-rich pentatricopeptide repeat containing 0.275801
CHN1 chimerin 1 0.272953
MYLK3 myosin light chain kinase 3 0.271174
ROCK1P1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 0.269398
HCRTR1 hypocretin (orexin) receptor 1 0.264785
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.261245
C3 complement component 3 0.260184
ACTN1 actinin, alpha 1 0.258417
CKB creatine kinase, brain 0.256299
HEPACAM hepatic and glial cell adhesion molecule 0.254183
BCL3 B-cell CLL/lymphoma 3 0.250663
MCM4 minichromosome maintenance complex component 4 0.248905
CBS cystathionine-beta-synthase 0.248203
TSPAN7 tetraspanin 7 0.246799
MEF2D myocyte enhancer factor 2D 0.242595
RPS17 ribosomal protein S17 0.241546
PRL prolactin 0.237706
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.237009
ROCK1 Rho-associated, coiled-coil containing protein kinase 1 0.23666
MN1 meningioma (disrupted in balanced translocation) 1 0.234573
SPEN spen family transcriptional repressor 0.233183
HCCS holocytochrome c synthase 0.225917
RAE1 ribonucleic acid export 1 0.219398
WNT5B wingless-type MMTV integration site family, member 5B 0.218715
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4 0.218374
GHRH growth hormone releasing hormone 0.215992
DLX3 distal-less homeobox 3 0.211261
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 0.210589
LMNA lamin A/C 0.205916
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 0.200006
SORBS1 sorbin and SH3 domain containing 1 0.199681
TIMELESS timeless circadian clock 0.199356
STMN2 stathmin 2 0.199033
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.198709
MANF mesencephalic astrocyte-derived neurotrophic factor 0.197742
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 0.195501
SRSF1 serine/arginine-rich splicing factor 1 0.195183
FBN2 fibrillin 2 0.193915
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 0.192031
TRPM4 transient receptor potential cation channel, subfamily M, member 4 0.188022
RRAS related RAS viral (r-ras) oncogene homolog 0.186811
IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2 0.182375
ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 0.180937
DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1 0.17952
MRC1 mannose receptor, C type 1 0.177851
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 0.177029
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) 0.174093
MIR191 microRNA 191 0.171286
LY96 lymphocyte antigen 96 0.169091
PRPF4B pre-mRNA processing factor 4B 0.168617
PNMA2 paraneoplastic Ma antigen 2 0.164786
TLK1 tousled-like kinase 1 0.164149
ENO3 enolase 3 (beta, muscle) 0.163317
MIR27B microRNA 27b 0.162908
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.162707
PML promyelocytic leukemia 0.161912
BEAN1 brain expressed, associated with NEDD4, 1 0.161716
EIF6 eukaryotic translation initiation factor 6 0.158434
RAD23B RAD23 homolog B (S. cerevisiae) 0.143115
CLCN2 chloride channel, voltage-sensitive 2 0.143036
COCH cochlin 0.142906
MSTN myostatin 0.142874
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 0.142788
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 0.142707
BSND barttin CLCNK-type chloride channel accessory beta subunit 0.142294
HNRNPK heterogeneous nuclear ribonucleoprotein K 0.141934
MIR221 microRNA 221 0.139593
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 0.137629
AVPR2 arginine vasopressin receptor 2 0.135609
WDFY2 WD repeat and FYVE domain containing 2 0.135307
TNS1 tensin 1 0.134807
MLN motilin 0.13476
OAT ornithine aminotransferase 0.133904
GAA glucosidase, alpha; acid 0.132569
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 0.130029
HK1 hexokinase 1 0.127775
MIR107 microRNA 107 0.127529
ODC1 ornithine decarboxylase 1 0.127217
CAV3 caveolin 3 0.127088
NGF nerve growth factor (beta polypeptide) 0.127088
RAB3A RAB3A, member RAS oncogene family 0.126926
MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 0.126497
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 0.126431
PABPC1 poly(A) binding protein, cytoplasmic 1 0.126431
TDP1 tyrosyl-DNA phosphodiesterase 1 0.126397