Leiomyosarcoma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)|A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.|An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. (Experimental Factor Ontology, EFO_0000564)
External Link https://www.disgenet.org/browser/0/1/0/C0023269
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Genes

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

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTB actin, beta
ACVRL1 activin A receptor type II-like 1
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALK anaplastic lymphoma receptor tyrosine kinase
AMHR2 anti-Mullerian hormone receptor, type II
ANO1 anoctamin 1, calcium activated chloride channel
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
ARL4C ADP-ribosylation factor-like 4C
ATM ATM serine/threonine kinase
AXL AXL receptor tyrosine kinase
AZIN2 antizyme inhibitor 2
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BCOR BCL6 corepressor
BGN biglycan
BRCA1 breast cancer 1, early onset
CALD1 caldesmon 1
CCDC6 coiled-coil domain containing 6
CCK cholecystokinin
CD163 CD163 molecule
CD274 CD274 molecule
CD34 CD34 molecule
CD68 CD68 molecule
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDK4 cyclin-dependent kinase 4
CDK8 cyclin-dependent kinase 8
CDKN2A cyclin-dependent kinase inhibitor 2A
CDO1 cysteine dioxygenase type 1
CETN1 centrin, EF-hand protein, 1
CHAMP1 chromosome alignment maintaining phosphoprotein 1
CHEK2 checkpoint kinase 2
CHGA chromogranin A
COIL coilin
COL1A1 collagen, type I, alpha 1
CR2 complement component (3d/Epstein Barr virus) receptor 2
CSF1 colony stimulating factor 1 (macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL8 chemokine (C-X-C motif) ligand 8
DAP death-associated protein
DCC DCC netrin 1 receptor
DDIT3 DNA-damage-inducible transcript 3
DES desmin
DFFA DNA fragmentation factor, 45kDa, alpha polypeptide
DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)
DHCR24 24-dehydrocholesterol reductase
DLEC1 deleted in lung and esophageal cancer 1
DMD dystrophin
DPEP1 dipeptidase 1 (renal)
E2F1 E2F transcription factor 1
EDIL3 EGF-like repeats and discoidin I-like domains 3
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ELN elastin
EPHB2 EPH receptor B2
ERCC5 excision repair cross-complementation group 5
ESR1 estrogen receptor 1
EWSR1 EWS RNA-binding protein 1
F3 coagulation factor III (thromboplastin, tissue factor)
FASN fatty acid synthase
FBLIM1 filamin binding LIM protein 1
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FERMT2 fermitin family member 2
FERMT3 fermitin family member 3
FGF2 fibroblast growth factor 2 (basic)
FH fumarate hydratase
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FUS FUS RNA binding protein
GADD45B growth arrest and DNA-damage-inducible, beta
GADL1 glutamate decarboxylase-like 1
GAS6 growth arrest-specific 6
GGT1 gamma-glutamyltransferase 1
GGTLC3 gamma-glutamyltransferase light chain 3
GLI1 GLI family zinc finger 1
GRN granulin
HDAC9 histone deacetylase 9
HHAT hedgehog acyltransferase
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
HMMR hyaluronan-mediated motility receptor (RHAMM)
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
IFITM1 interferon induced transmembrane protein 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IL1R1 interleukin 1 receptor, type I
INSRR insulin receptor-related receptor
IRS2 insulin receptor substrate 2
ITGA7 integrin, alpha 7
JAK1 Janus kinase 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF4 Kruppel-like factor 4 (gut)
KRAS Kirsten rat sarcoma viral oncogene homolog
LATS1 large tumor suppressor kinase 1
LEF1 lymphoid enhancer-binding factor 1
LGALS3 lectin, galactoside-binding, soluble, 3
LMOD1 leiomodin 1 (smooth muscle)
MAPK1 mitogen-activated protein kinase 1
MBD1 methyl-CpG binding domain protein 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MED12 mediator complex subunit 12
MEF2A myocyte enhancer factor 2A
MEF2D myocyte enhancer factor 2D
MET MET proto-oncogene, receptor tyrosine kinase
MMP2 matrix metallopeptidase 2
MOV10L1 Mov10 RISC complex RNA helicase like 1
MRC1 mannose receptor, C type 1
MVP major vault protein
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYLK myosin light chain kinase
MYLK2 myosin light chain kinase 2
MYLK3 myosin light chain kinase 3
MYOCD myocardin
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NDC80 NDC80 kinetochore complex component
NKX2-5 NK2 homeobox 5
NME1 NME/NM23 nucleoside diphosphate kinase 1
NPAS2 neuronal PAS domain protein 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
PARP1 poly (ADP-ribose) polymerase 1
PCP4 Purkinje cell protein 4
PDCD4 programmed cell death 4 (neoplastic transformation inhibitor)
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PECAM1 platelet/endothelial cell adhesion molecule 1
PEG10 paternally expressed 10
PGR progesterone receptor
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLAG1 pleiomorphic adenoma gene 1
PLAU plasminogen activator, urokinase
PNPLA2 patatin-like phospholipase domain containing 2
PPP1R12A protein phosphatase 1, regulatory subunit 12A
PRUNE1 prune exopolyphosphatase 1
PRUNE2 prune homolog 2 (Drosophila)
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RB1 retinoblastoma 1
RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
RFTN1 raftlin, lipid raft linker 1
RICTOR RPTOR independent companion of MTOR, complex 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RRAS2 related RAS viral (r-ras) oncogene homolog 2
RTL1 retrotransposon-like 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETMAR SET domain and mariner transposase fusion gene
SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11
SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLPI secretory leukocyte peptidase inhibitor
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNAI2 snail family zinc finger 2
SOCS3 suppressor of cytokine signaling 3
SP3 Sp3 transcription factor
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SRF serum response factor (c-fos serum response element-binding transcription factor)
SSX2 synovial sarcoma, X breakpoint 2
SSX2B synovial sarcoma, X breakpoint 2B
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TERT telomerase reverse transcriptase
TNS1 tensin 1
TOP2A topoisomerase (DNA) II alpha 170kDa
TOPBP1 topoisomerase (DNA) II binding protein 1
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TP63 tumor protein p63
TP73 tumor protein p73
TPX2 TPX2, microtubule-associated
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TSPAN31 tetraspanin 31
TYRO3 TYRO3 protein tyrosine kinase
UBASH3A ubiquitin associated and SH3 domain containing A
USP18 ubiquitin specific peptidase 18
VCAN versican
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VIM vimentin
VIPR2 vasoactive intestinal peptide receptor 2
WDR20 WD repeat domain 20
WDR48 WD repeat domain 48
ZEB1 zinc finger E-box binding homeobox 1
ZEB2 zinc finger E-box binding homeobox 2
ZNF250 zinc finger protein 250
ZNF281 zinc finger protein 281