Myotonia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. (Human Phenotype Ontology, HP_0002486)
External Link https://www.disgenet.org/browser/0/1/0/C0553604
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Genes

169 genes associated with the disease Myotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALPP alkaline phosphatase, placental
AMH anti-Mullerian hormone
AMPH amphiphysin
APOC1 apolipoprotein C-I
APOC2 apolipoprotein C-II
APOE apolipoprotein E
ARF3 ADP-ribosylation factor 3
ASB2 ankyrin repeat and SOCS box containing 2
ASRGL1 asparaginase like 1
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATRNL1 attractin-like 1
ATXN1 ataxin 1
ATXN3 ataxin 3
BCL3 B-cell CLL/lymphoma 3
BIN1 bridging integrator 1
BPIFA2 BPI fold containing family A, member 2
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
C9ORF72 chromosome 9 open reading frame 72
CCL27 chemokine (C-C motif) ligand 27
CCND3 cyclin D3
CCT3 chaperonin containing TCP1, subunit 3 (gamma)
CD59 CD59 molecule, complement regulatory protein
CDC42 cell division cycle 42
CDC42BPA CDC42 binding protein kinase alpha (DMPK-like)
CDC42BPB CDC42 binding protein kinase beta (DMPK-like)
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
CELF1 CUGBP, Elav-like family member 1
CELF2 CUGBP, Elav-like family member 2
CELF6 CUGBP, Elav-like family member 6
CIC capicua transcriptional repressor
CKM creatine kinase, muscle
CLC Charcot-Leyden crystal galectin
CLCN1 chloride channel, voltage-sensitive 1
CLIP1 CAP-GLY domain containing linker protein 1
CLIP2 CAP-GLY domain containing linker protein 2
CNBP CCHC-type zinc finger, nucleic acid binding protein
CTCF CCCTC-binding factor (zinc finger protein)
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DDX5 DEAD (Asp-Glu-Ala-Asp) box helicase 5
DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6
DESI1 desumoylating isopeptidase 1
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DMWD dystrophia myotonica, WD repeat containing
DYSF dysferlin
ERCC1 excision repair cross-complementation group 1
F5 coagulation factor V (proaccelerin, labile factor)
FAM107B family with sequence similarity 107, member B
FEN1 flap structure-specific endonuclease 1
FGF21 fibroblast growth factor 21
FGF3 fibroblast growth factor 3
FSD1 fibronectin type III and SPRY domain containing 1
FSD1L fibronectin type III and SPRY domain containing 1-like
FXN frataxin
GC group-specific component (vitamin D binding protein)
GGCT gamma-glutamylcyclotransferase
GGTLC1 gamma-glutamyltransferase light chain 1
GH1 growth hormone 1
GHRH growth hormone releasing hormone
GPR4 G protein-coupled receptor 4
GSK3B glycogen synthase kinase 3 beta
HCRT hypocretin (orexin) neuropeptide precursor
IL10 interleukin 10
IL1B interleukin 1, beta
IL4 interleukin 4
IL6 interleukin 6
INSR insulin receptor
INTS1 integrator complex subunit 1
INTS2 integrator complex subunit 2
IRF4 interferon regulatory factor 4
JAK2 Janus kinase 2
JPH3 junctophilin 3
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
LDB3 LIM domain binding 3
LDLR low density lipoprotein receptor
LOC101060233 medium-wave-sensitive opsin 1
LOC102724197 inactive gamma-glutamyltranspeptidase 2-like
MAK16 MAK16 homolog (S. cerevisiae)
MAPT microtubule-associated protein tau
MBNL1 muscleblind-like splicing regulator 1
MBNL2 muscleblind-like splicing regulator 2
MEF2A myocyte enhancer factor 2A
MEF2C myocyte enhancer factor 2C
MLH1 mutL homolog 1
MMD monocyte to macrophage differentiation-associated
MMP1 matrix metallopeptidase 1
MRC1 mannose receptor, C type 1
MSH2 mutS homolog 2
MSH3 mutS homolog 3
MSMB microseminoprotein, beta-
MSTN myostatin
MTM1 myotubularin 1
MTMR1 myotubularin related protein 1
MYOG myogenin (myogenic factor 4)
NAT10 N-acetyltransferase 10 (GCN5-related)
NEK6 NIMA-related kinase 6
NKX2-5 NK2 homeobox 5
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2
OXA1L oxidase (cytochrome c) assembly 1-like
PDLIM3 PDZ and LIM domain 3
PEPD peptidase D
PGD phosphogluconate dehydrogenase
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PNO1 partner of NOB1 homolog (S. cerevisiae)
POMC proopiomelanocortin
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRKCG protein kinase C, gamma
PRNP prion protein
PRRT2 proline-rich transmembrane protein 2
PSPH phosphoserine phosphatase
PSPN persephin
PTBP1 polypyrimidine tract binding protein 1
QPCT glutaminyl-peptide cyclotransferase
QTRT1 queuine tRNA-ribosyltransferase 1
RAB1B RAB1B, member RAS oncogene family
RAB6B RAB6B, member RAS oncogene family
RAN RAN, member RAS oncogene family
RANGAP1 Ran GTPase activating protein 1
RAP1B RAP1B, member of RAS oncogene family
RAP2B RAP2B, member of RAS oncogene family
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RBMS3 RNA binding motif, single stranded interacting protein 3
REG1A regenerating islet-derived 1 alpha
REM1 RAS (RAD and GEM)-like GTP-binding 1
RIDA reactive intermediate imine deaminase A homolog
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
RRAS related RAS viral (r-ras) oncogene homolog
RSPH6A radial spoke head 6 homolog A (Chlamydomonas)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SIX5 SIX homeobox 5
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC35G1 solute carrier family 35, member G1
SLPI secretory leukocyte peptidase inhibitor
SPEN spen family transcriptional repressor
SRF serum response factor (c-fos serum response element-binding transcription factor)
SRRM2 serine/arginine repetitive matrix 2
SRSF2 serine/arginine-rich splicing factor 2
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
STXBP3 syntaxin binding protein 3
SYN1 synapsin I
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TNF tumor necrosis factor
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TNNI3 troponin I type 3 (cardiac)
TNNT1 troponin T type 1 (skeletal, slow)
TP53 tumor protein p53
UGT8 UDP glycosyltransferase 8
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VEGFA vascular endothelial growth factor A
WASL Wiskott-Aldrich syndrome-like
WNT1 wingless-type MMTV integration site family, member 1