Dermatomyositis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.|A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6) (Experimental Factor Ontology, EFO_0000398)
External Link https://www.disgenet.org/browser/0/1/0/C0263666
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Genes

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

Symbol Name
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACE angiotensin I converting enzyme
ACR acrosin
ACTB actin, beta
ACTN3 actinin, alpha 3 (gene/pseudogene)
ADAM17 ADAM metallopeptidase domain 17
AGER advanced glycosylation end product-specific receptor
AGO2 argonaute RISC catalytic component 2
ALB albumin
ALOX5 arachidonate 5-lipoxygenase
ANG angiogenin, ribonuclease, RNase A family, 5
ANGPTL2 angiopoietin-like 2
ANKRD55 ankyrin repeat domain 55
AOC2 amine oxidase, copper containing 2 (retina-specific)
AOC3 amine oxidase, copper containing 3
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATP5IF1 ATP synthase inhibitory factor subunit 1
BANK1 B-cell scaffold protein with ankyrin repeats 1
BCL2 B-cell CLL/lymphoma 2
BEST1 bestrophin 1
BLK BLK proto-oncogene, Src family tyrosine kinase
BTG3 BTG family, member 3
C2 complement component 2
C4A complement component 4A (Rodgers blood group)
C9 complement component 9
CABIN1 calcineurin binding protein 1
CACYBP calcyclin binding protein
CAMP cathelicidin antimicrobial peptide
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP6 caspase 6, apoptosis-related cysteine peptidase
CAST calpastatin
CCL17 chemokine (C-C motif) ligand 17
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CCL19 chemokine (C-C motif) ligand 19
CCL2 chemokine (C-C motif) ligand 2
CCL21 chemokine (C-C motif) ligand 21
CCN1 cellular communication network factor 1
CCN2 cellular communication network factor 2
CCR2 chemokine (C-C motif) receptor 2
CCR7 chemokine (C-C motif) receptor 7
CD163 CD163 molecule
CD207 CD207 molecule, langerin
CD274 CD274 molecule
CD28 CD28 molecule
CD34 CD34 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CD68 CD68 molecule
CD83 CD83 molecule
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHIT1 chitinase 1 (chitotriosidase)
CKLF chemokine-like factor
CLEC4C C-type lectin domain family 4, member C
COL4A5 collagen, type IV, alpha 5
CPN1 carboxypeptidase N, polypeptide 1
CRISP2 cysteine-rich secretory protein 2
CRP C-reactive protein, pentraxin-related
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSG cathepsin G
CTSL cathepsin L
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL11 chemokine (C-X-C motif) ligand 11
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR4 chemokine (C-X-C motif) receptor 4
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCPS decapping enzyme, scavenger
DCTN4 dynactin 4 (p62)
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DHX9 DEAH (Asp-Glu-Ala-His) box helicase 9
DMD dystrophin
DNASE1L3 deoxyribonuclease I-like 3
DYSF dysferlin
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELANE elastase, neutrophil expressed
ERBB3 erb-b2 receptor tyrosine kinase 3
FABP3 fatty acid binding protein 3, muscle and heart
FAM167A family with sequence similarity 167, member A
FBN1 fibrillin 1
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FOXP3 forkhead box P3
FSCN1 fascin actin-bundling protein 1
FSD1 fibronectin type III and SPRY domain containing 1
FSD1L fibronectin type III and SPRY domain containing 1-like
GARS glycyl-tRNA synthetase
GLIS3 GLIS family zinc finger 3
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DMA major histocompatibility complex, class II, DM alpha
HLA-DMB major histocompatibility complex, class II, DM beta
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGB1 high mobility group box 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPA14 heat shock 70kDa protein 14
HSPD1 heat shock 60kDa protein 1 (chaperonin)
ICAM1 intercellular adhesion molecule 1
IFI6 interferon, alpha-inducible protein 6
IFIH1 interferon induced with helicase C domain 1
IFIT3 interferon-induced protein with tetratricopeptide repeats 3
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IL10 interleukin 10
IL15 interleukin 15
IL17A interleukin 17A
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RAPL2 interleukin 1 receptor accessory protein-like 2
IL2 interleukin 2
IL21 interleukin 21
IL21R interleukin 21 receptor
IL22 interleukin 22
IL2RA interleukin 2 receptor, alpha
IL31 interleukin 31
IL31RA interleukin 31 receptor A
IL4 interleukin 4
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
IRF5 interferon regulatory factor 5
IRF7 interferon regulatory factor 7
ISG15 ISG15 ubiquitin-like modifier
ISG20 interferon stimulated exonuclease gene 20kDa
KANK2 KN motif and ankyrin repeat domains 2
KARS1 lysyl-tRNA synthetase 1
KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KRT20 keratin 20, type I
LGALS3 lectin, galactoside-binding, soluble, 3
LGALS9 lectin, galactoside-binding, soluble, 9
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
MB myoglobin
MBD2 methyl-CpG binding domain protein 2
MBL2 mannose-binding lectin (protein C) 2, soluble
MCHR2 melanin-concentrating hormone receptor 2
MECP2 methyl CpG binding protein 2
MEFV Mediterranean fever
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MMP7 matrix metallopeptidase 7
MMP8 matrix metallopeptidase 8
MMP9 matrix metallopeptidase 9
MORC3 MORC family CW-type zinc finger 3
MPC1 mitochondrial pyruvate carrier 1
MPO myeloperoxidase
MRC1 mannose receptor, C type 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MUC1 mucin 1, cell surface associated
MX1 MX dynamin-like GTPase 1
MYH2 myosin, heavy chain 2, skeletal muscle, adult
NCAM1 neural cell adhesion molecule 1
NECAP2 NECAP endocytosis associated 2
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NLRP3 NLR family, pyrin domain containing 3
NOS2 nitric oxide synthase 2, inducible
NT5C1A 5'-nucleotidase, cytosolic IA
NUP62 nucleoporin 62kDa
PDCD1 programmed cell death 1
PF4 platelet factor 4
PIP prolactin-induced protein
PKM pyruvate kinase, muscle
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLCL1 phospholipase C-like 1
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
POMC proopiomelanocortin
POTEF POTE ankyrin domain family, member F
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRRT2 proline-rich transmembrane protein 2
PRSS55 protease, serine, 55
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PUF60 poly-U binding splicing factor 60KDa
RARRES3 retinoic acid receptor responder (tazarotene induced) 3
RBM14 RNA binding motif protein 14
RBM14-RBM4 RBM14-RBM4 readthrough
RBM45 RNA binding motif protein 45
RIT2 Ras-like without CAAX 2
RMI2 RecQ mediated genome instability 2
RNPC3 RNA-binding region (RNP1, RRM) containing 3
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RTRAF RNA transcription, translation and transport factor
S100A11 S100 calcium binding protein A11
S100A8 S100 calcium binding protein A8
S100B S100 calcium binding protein B
SFPQ splicing factor proline/glutamine-rich
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLURP1 secreted LY6/PLAUR domain containing 1
SMOC1 SPARC related modular calcium binding 1
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOAT1 sterol O-acyltransferase 1
SOCS3 suppressor of cytokine signaling 3
SOD1 superoxide dismutase 1, soluble
SPP1 secreted phosphoprotein 1
SPZ1 spermatogenic leucine zipper 1
SQSTM1 sequestosome 1
SRGN serglycin
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT4 signal transducer and activator of transcription 4
STING1 stimulator of interferon response cGAMP interactor 1
SYNM synemin, intermediate filament protein
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
TGM2 transglutaminase 2
THBS1 thrombospondin 1
TIMP1 TIMP metallopeptidase inhibitor 1
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR7 toll-like receptor 7
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNFSF12-TNFSF13 TNFSF12-TNFSF13 readthrough
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TP53 tumor protein p53
TP53INP1 tumor protein p53 inducible nuclear protein 1
TPO thyroid peroxidase
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIM21 tripartite motif containing 21
TRIM24 tripartite motif containing 24
TRIM28 tripartite motif containing 28
TRIM33 tripartite motif containing 33
TSACC TSSK6 activating co-chaperone
TTN titin
TYK2 tyrosine kinase 2
UCN2 urocortin 2
USP18 ubiquitin specific peptidase 18
VCAM1 vascular cell adhesion molecule 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
WT1 Wilms tumor 1