Myotonic Dystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C3250443
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Genes

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

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACE angiotensin I converting enzyme
ACTB actin, beta
ADA adenosine deaminase
ADIPOQ adiponectin, C1Q and collagen domain containing
AGER advanced glycosylation end product-specific receptor
ALB albumin
ALPP alkaline phosphatase, placental
AMH anti-Mullerian hormone
ANGPT2 angiopoietin 2
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOC2 apolipoprotein C-II
APOE apolipoprotein E
ASB2 ankyrin repeat and SOCS box containing 2
ASRGL1 asparaginase like 1
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATRNL1 attractin-like 1
AVP arginine vasopressin
BECN1 beclin 1, autophagy related
BRCA1 breast cancer 1, early onset
BRD2 bromodomain containing 2
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
CABIN1 calcineurin binding protein 1
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CCL2 chemokine (C-C motif) ligand 2
CCL21 chemokine (C-C motif) ligand 21
CCL27 chemokine (C-C motif) ligand 27
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCT2 chaperonin containing TCP1, subunit 2 (beta)
CD19 CD19 molecule
CD274 CD274 molecule
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CELF1 CUGBP, Elav-like family member 1
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CKM creatine kinase, muscle
CLCN1 chloride channel, voltage-sensitive 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
CRP C-reactive protein, pentraxin-related
CST3 cystatin C
CTCF CCCTC-binding factor (zinc finger protein)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSD cathepsin D
CXCR4 chemokine (C-X-C motif) receptor 4
DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6
DGCR2 DiGeorge syndrome critical region gene 2
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ESR1 estrogen receptor 1
FGF21 fibroblast growth factor 21
FN1 fibronectin 1
FZD3 frizzled class receptor 3
FZD5 frizzled class receptor 5
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GEM GTP binding protein overexpressed in skeletal muscle
GH1 growth hormone 1
GSK3B glycogen synthase kinase 3 beta
HAS2 hyaluronan synthase 2
HCRT hypocretin (orexin) neuropeptide precursor
HFE hemochromatosis
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HLA-B major histocompatibility complex, class I, B
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2)
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 (H)
HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H')
HP haptoglobin
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IFIH1 interferon induced with helicase C domain 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFBP5 insulin-like growth factor binding protein 5
IL10 interleukin 10
IL17A interleukin 17A
IL4 interleukin 4
IL6 interleukin 6
INSR insulin receptor
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KLF4 Kruppel-like factor 4 (gut)
LDB3 LIM domain binding 3
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2
MAL mal, T-cell differentiation protein
MBNL1 muscleblind-like splicing regulator 1
MBNL2 muscleblind-like splicing regulator 2
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MNX1 motor neuron and pancreas homeobox 1
MOK MOK protein kinase
MORF4L1 mortality factor 4 like 1
MPC1 mitochondrial pyruvate carrier 1
MSH3 mutS homolog 3
MSTN myostatin
MUC1 mucin 1, cell surface associated
MVP major vault protein
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYH14 myosin, heavy chain 14, non-muscle
NAT10 N-acetyltransferase 10 (GCN5-related)
NBEAL2 neurobeachin-like 2
NEK6 NIMA-related kinase 6
NKX2-5 NK2 homeobox 5
NPPB natriuretic peptide B
OXA1L oxidase (cytochrome c) assembly 1-like
PDLIM3 PDZ and LIM domain 3
POU2F1 POU class 2 homeobox 1
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
PRRT2 proline-rich transmembrane protein 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTH parathyroid hormone
PUF60 poly-U binding splicing factor 60KDa
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
REM1 RAS (RAD and GEM)-like GTP-binding 1
RMI2 RecQ mediated genome instability 2
ROR1 receptor tyrosine kinase-like orphan receptor 1
RSPH6A radial spoke head 6 homolog A (Chlamydomonas)
RYR1 ryanodine receptor 1 (skeletal)
SCN5A sodium channel, voltage gated, type V alpha subunit
SIRT1 sirtuin 1
SIRT6 sirtuin 6
SIX5 SIX homeobox 5
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLPI secretory leukocyte peptidase inhibitor
SMAD3 SMAD family member 3
SOCS5 suppressor of cytokine signaling 5
SPEN spen family transcriptional repressor
SYNE1 spectrin repeat containing, nuclear envelope 1
TAC3 tachykinin 3
TADA1 transcriptional adaptor 1
TERT telomerase reverse transcriptase
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGM2 transglutaminase 2
TH tyrosine hydroxylase
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TJP1 tight junction protein 1
TLR7 toll-like receptor 7
TMEM119 transmembrane protein 119
TNF tumor necrosis factor
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF25 tumor necrosis factor receptor superfamily, member 25
TNNI3 troponin I type 3 (cardiac)
TRIM21 tripartite motif containing 21
TRIM24 tripartite motif containing 24
TRIM33 tripartite motif containing 33
VEGFA vascular endothelial growth factor A
XPO1 exportin 1
ZNF609 zinc finger protein 609