myotonic dystrophy type 1 Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. (Human Disease Ontology, DOID_11722)
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Genes

251 genes co-occuring with the disease myotonic dystrophy type 1 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 3.52669
MBNL1 muscleblind-like splicing regulator 1 3.05546
CNBP CCHC-type zinc finger, nucleic acid binding protein 2.92416
CELF1 CUGBP, Elav-like family member 1 2.54513
SIX5 SIX homeobox 5 2.18076
MBNL2 muscleblind-like splicing regulator 2 2.01841
APOC2 apolipoprotein C-II 1.99364
DMWD dystrophia myotonica, WD repeat containing 1.88666
MBNL3 muscleblind-like splicing regulator 3 1.72639
CLCN1 chloride channel, voltage-sensitive 1 1.63455
CEBPD CCAAT/enhancer binding protein (C/EBP), delta 1.60905
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 1.51545
CDC42 cell division cycle 42 1.38996
MTMR1 myotubularin related protein 1 1.31275
INSR insulin receptor 1.30226
AFF2 AF4/FMR2 family, member 2 1.24645
ELAVL4 ELAV like neuron-specific RNA binding protein 4 1.18109
C10ORF2 chromosome 10 open reading frame 2 1.17722
NEK6 NIMA-related kinase 6 1.13374
FEN1 flap structure-specific endonuclease 1 1.10552
HSPB2 heat shock 27kDa protein 2 1.09125
ELAVL2 ELAV like neuron-specific RNA binding protein 2 1.08621
YIPF7 Yip1 domain family, member 7 1.07194
CELF2 CUGBP, Elav-like family member 2 1.06228
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3 1.06018
CDC42BPA CDC42 binding protein kinase alpha (DMPK-like) 1.05723
TXLNB taxilin beta 1.05513
MYOD1 myogenic differentiation 1 1.05303
INS insulin 1.04714
CELF4 CUGBP, Elav-like family member 4 1.03535
RYR1 ryanodine receptor 1 (skeletal) 1.03367
ZNF37A zinc finger protein 37A 1.02777
MYOG myogenin (myogenic factor 4) 1.01934
SCN4A sodium channel, voltage gated, type IV alpha subunit 1.01723
CKM creatine kinase, muscle 1.00246
MTM1 myotubularin 1 0.99233
PRKCG protein kinase C, gamma 0.984743
DMD dystrophin 0.977165
MSH3 mutS homolog 3 0.975903
DNAH8 dynein, axonemal, heavy chain 8 0.934556
AR androgen receptor 0.930414
CDC42BPG CDC42 binding protein kinase gamma (DMPK-like) 0.925452
HKR1 HKR1, GLI-Kruppel zinc finger family member 0.918848
ERCC1 excision repair cross-complementation group 1 0.913492
BIN1 bridging integrator 1 0.90321
BCAM basal cell adhesion molecule (Lutheran blood group) 0.890078
ELAVL3 ELAV like neuron-specific RNA binding protein 3 0.882701
MEF2A myocyte enhancer factor 2A 0.876557
ZNF274 zinc finger protein 274 0.872462
CIT citron rho-interacting serine/threonine kinase 0.868368
TNNT2 troponin T type 2 (cardiac) 0.852402
DDX5 DEAD (Asp-Glu-Ala-Asp) box helicase 5 0.788033
ATXN3 ataxin 3 0.772887
MSH2 mutS homolog 2 0.772479
C9ORF72 chromosome 9 open reading frame 72 0.771252
MAPT microtubule-associated protein tau 0.770435
ELAVL1 ELAV like RNA binding protein 1 0.76921
PEPD peptidase D 0.757378
RSPH6A radial spoke head 6 homolog A (Chlamydomonas) 0.748017
RIPK4 receptor-interacting serine-threonine kinase 4 0.747204
AMPD1 adenosine monophosphate deaminase 1 0.740705
TNNT3 troponin T type 3 (skeletal, fast) 0.728547
ZCCHC11 zinc finger, CCHC domain containing 11 0.728547
CLSPN claspin 0.720058
U2AF2 U2 small nuclear RNA auxiliary factor 2 0.719654
SNRPA small nuclear ribonucleoprotein polypeptide A 0.717635
RAB4A RAB4A, member RAS oncogene family 0.716425
DMAP1 DNA methyltransferase 1 associated protein 1 0.693098
LDB3 LIM domain binding 3 0.689492
PCBP2 poly(rC) binding protein 2 0.663181
ZNF3 zinc finger protein 3 0.662784
SAMD4A sterile alpha motif domain containing 4A 0.644586
ZNF711 zinc finger protein 711 0.633956
FRG1 FSHD region gene 1 0.633563
CTCF CCCTC-binding factor (zinc finger protein) 0.631598
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.631205
MAB21L1 mab-21-like 1 (C. elegans) 0.630813
SSBP3 single stranded DNA binding protein 3 0.626495
FKTN fukutin 0.623359
SAR1A secretion associated, Ras related GTPase 1A 0.620226
CRYAB crystallin, alpha B 0.619442
RAP2B RAP2B, member of RAS oncogene family 0.616703
RAB1B RAB1B, member RAS oncogene family 0.613183
TTN titin 0.604981
MYEF2 myelin expression factor 2 0.604201
ARF3 ADP-ribosylation factor 3 0.59952
MTMR14 myotubularin related protein 14 0.596402
FGD5 FYVE, RhoGEF and PH domain containing 5 0.592895
ZNF763 zinc finger protein 763 0.590169
ZNF501 zinc finger protein 501 0.590169
KLK1 kallikrein 1 0.590169
ZNF629 zinc finger protein 629 0.590169
ZNF569 zinc finger protein 569 0.590169
APOC1 apolipoprotein C-I 0.589779
FMR1 fragile X mental retardation 1 0.581996
ZNF44 zinc finger protein 44 0.576939
PPFIA3 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 0.574994
TRH thyrotropin-releasing hormone 0.573828
TIPIN TIMELESS interacting protein 0.573828
SRSF7 serine/arginine-rich splicing factor 7 0.568775
DICER1 dicer 1, ribonuclease type III 0.566443
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 0.564889
BCL6B B-cell CLL/lymphoma 6, member B 0.560616
MT-ATP8 ATP synthase F0 subunit 8 0.559839
MYO18A myosin XVIIIA 0.559062
RSPH4A radial spoke head 4 homolog A (Chlamydomonas) 0.539667
HRC histidine rich calcium binding protein 0.535796
CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 0.530381
DDX17 DEAD (Asp-Glu-Ala-Asp) box helicase 17 0.52729
ZKSCAN7 zinc finger with KRAB and SCAN domains 7 0.524202
MYOM1 myomesin 1 0.519961
PLEK pleckstrin 0.514186
HTT huntingtin 0.507657
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 0.501527
AMPH amphiphysin 0.501527
MSH6 mutS homolog 6 0.493885
MIR133B microRNA 133b 0.491978
MEF2C myocyte enhancer factor 2C 0.482464
CASQ2 calsequestrin 2 (cardiac muscle) 0.481705
TNNT1 troponin T type 1 (skeletal, slow) 0.481325
ZNF436 zinc finger protein 436 0.47753
GPR4 G protein-coupled receptor 4 0.473361
MAP7 microtubule-associated protein 7 0.472225
NDP Norrie disease (pseudoglioma) 0.470711
ZFP64 ZFP64 zinc finger protein 0.470332
HCRT hypocretin (orexin) neuropeptide precursor 0.46466
POMC proopiomelanocortin 0.463905
SIX4 SIX homeobox 4 0.462016
SRA1 steroid receptor RNA activator 1 0.458241
CA3 carbonic anhydrase III 0.457864
EMD emerin 0.452962
TPRG1L tumor protein p63 regulated 1-like 0.448064
FRG2 FSHD region gene 2 0.447687
CRH corticotropin releasing hormone 0.446935
TACC2 transforming, acidic coiled-coil containing protein 2 0.446558
RPL14 ribosomal protein L14 0.446558
TMEM185A transmembrane protein 185A 0.445429
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) 0.4443
PABPN1 poly(A) binding protein, nuclear 1 0.443171
PDLIM3 PDZ and LIM domain 3 0.438282
STAU1 staufen double-stranded RNA binding protein 1 0.42739
SARNP SAP domain containing ribonucleoprotein 0.42289
SRSF9 serine/arginine-rich splicing factor 9 0.411657
FCGRT Fc fragment of IgG, receptor, transporter, alpha 0.411283
APOE apolipoprotein E 0.406051
SP1 Sp1 transcription factor 0.401199
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3 0.400453
TYRO3 TYRO3 protein tyrosine kinase 0.396725
EPB41 erythrocyte membrane protein band 4.1 0.395608
HSPB6 heat shock protein, alpha-crystallin-related, B6 0.394863
CCND3 cyclin D3 0.393001
ADO 2-aminoethanethiol (cysteamine) dioxygenase 0.390397
AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase 0.389281
IGF1 insulin-like growth factor 1 (somatomedin C) 0.387423
CDK20 cyclin-dependent kinase 20 0.384079
PPFIA1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 0.379626
GGT1 gamma-glutamyltransferase 1 0.379256
DNM2 dynamin 2 0.371847
PTBP1 polypyrimidine tract binding protein 1 0.365562
CRYM crystallin, mu 0.363347
ROCK2 Rho-associated, coiled-coil containing protein kinase 2 0.361133
MYF5 myogenic factor 5 0.357814
HLF hepatic leukemia factor 0.351555
TSPAN1 tetraspanin 1 0.346409
DTNA dystrobrevin, alpha 0.346042
MB myoglobin 0.334681
MIR181C microRNA 181c 0.334315
PSD pleckstrin and Sec7 domain containing 0.334315
DYM dymeclin 0.332121
SRSF2 serine/arginine-rich splicing factor 2 0.33066
MEGF6 multiple EGF-like-domains 6 0.3292
XPO5 exportin 5 0.325916
JPH3 junctophilin 3 0.321909
MNX1 motor neuron and pancreas homeobox 1 0.320817
SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 0.318999
DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6 0.313552
MORF4 mortality factor 4 (pseudogene) 0.313552
FRG2B FSHD region gene 2 family, member B 0.311739
SIRPA signal-regulatory protein alpha 0.309204
PLN phospholamban 0.307757
LARGE like-glycosyltransferase 0.304864
KIAA1109 KIAA1109 0.298731
MAP6 microtubule-associated protein 6 0.298371
PYY peptide YY 0.294413
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 0.291898
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 0.291539
IGFBP3 insulin-like growth factor binding protein 3 0.290821
LRPPRC leucine-rich pentatricopeptide repeat containing 0.289027
CHN1 chimerin 1 0.28616
MYLK3 myosin light chain kinase 3 0.284371
ROCK1P1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 0.282582
HCRTR1 hypocretin (orexin) receptor 1 0.27794
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.274376
C3 complement component 3 0.273308
ACTN1 actinin, alpha 1 0.27153
CKB creatine kinase, brain 0.269398
BCL3 B-cell CLL/lymphoma 3 0.263722
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) 0.26266
MCM4 minichromosome maintenance complex component 4 0.261952
TSPAN7 tetraspanin 7 0.25983
MEF2D myocyte enhancer factor 2D 0.255594
RPS17 ribosomal protein S17 0.254536
PRL prolactin 0.250663
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.24996
ROCK1 Rho-associated, coiled-coil containing protein kinase 1 0.249608
MN1 meningioma (disrupted in balanced translocation) 1 0.247501
SPEN spen family transcriptional repressor 0.246098
HCCS holocytochrome c synthase 0.238752
RAE1 ribonucleic acid export 1 0.232142
WNT5B wingless-type MMTV integration site family, member 5B 0.231448
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4 0.231102
GHRH growth hormone releasing hormone 0.228679
DLX3 distal-less homeobox 3 0.223853
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 0.223165
LMNA lamin A/C 0.218374
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 0.212271
SORBS1 sorbin and SH3 domain containing 1 0.211934
TIMELESS timeless circadian clock 0.211597
STMN2 stathmin 2 0.211261
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.210925
MANF mesencephalic astrocyte-derived neurotrophic factor 0.209918
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 0.207578
SRSF1 serine/arginine-rich splicing factor 1 0.207245
FBN2 fibrillin 2 0.205916
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 0.203933
TRPM4 transient receptor potential cation channel, subfamily M, member 4 0.199681
RRAS related RAS viral (r-ras) oncogene homolog 0.198386
ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 0.192031
DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1 0.190476
MRC1 mannose receptor, C type 1 0.188632
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 0.187719
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) 0.184424
MIR191 microRNA 191 0.180937
LY96 lymphocyte antigen 96 0.178682
PRPF4B pre-mRNA processing factor 4B 0.178126
PNMA2 paraneoplastic Ma antigen 2 0.173571
TLK1 tousled-like kinase 1 0.172799
ENO3 enolase 3 (beta, muscle) 0.171785
MIR27B microRNA 27b 0.171286
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.171036
PML promyelocytic leukemia 0.170054
BEAN1 brain expressed, associated with NEDD4, 1 0.169812
EIF6 eukaryotic translation initiation factor 6 0.165655
MIR107 microRNA 107 0.164359
NGF nerve growth factor (beta polypeptide) 0.161523
CAV3 caveolin 3 0.161523
RAB3A RAB3A, member RAS oncogene family 0.160574
MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 0.158266
PABPC1 poly(A) binding protein, cytoplasmic 1 0.157929
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 0.157929
TDP1 tyrosyl-DNA phosphodiesterase 1 0.157765