Alveolar Rhabdomyosarcoma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.|Alveolar (Experimental Factor Ontology, EFO_0000248)
External Link https://www.disgenet.org/browser/0/1/0/C0206655
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Genes

107 genes associated with the disease Alveolar Rhabdomyosarcoma 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
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALK anaplastic lymphoma receptor tyrosine kinase
ALKBH6 alkB, alkylation repair homolog 6 (E. coli)
AP2B1 adaptor-related protein complex 2, beta 1 subunit
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
ARHGAP25 Rho GTPase activating protein 25
ARHGEF25 Rho guanine nucleotide exchange factor (GEF) 25
CAV1 caveolin 1, caveolae protein, 22kDa
CCDC88A coiled-coil domain containing 88A
CCND1 cyclin D1
CCNE2 cyclin E2
CD274 CD274 molecule
CD34 CD34 molecule
CDK4 cyclin-dependent kinase 4
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CHD4 chromodomain helicase DNA binding protein 4
CNR1 cannabinoid receptor 1 (brain)
CPT1A carnitine palmitoyltransferase 1A (liver)
DICER1 dicer 1, ribonuclease type III
DLK1 delta-like 1 homolog (Drosophila)
DUX4 double homeobox 4
E2F1 E2F transcription factor 1
EGFR epidermal growth factor receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
EWSR1 EWS RNA-binding protein 1
FAM193B family with sequence similarity 193, member B
FGFR1 fibroblast growth factor receptor 1
FGFR4 fibroblast growth factor receptor 4
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FOXF1 forkhead box F1
FOXF2 forkhead box F2
FOXO1 forkhead box O1
FRZB frizzled-related protein
GLI1 GLI family zinc finger 1
HDAC5 histone deacetylase 5
HEATR3 HEAT repeat containing 3
HES6 hes family bHLH transcription factor 6
HEY1 hes-related family bHLH transcription factor with YRPW motif 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IL24 interleukin 24
ILK integrin-linked kinase
INSM1 insulinoma-associated 1
IRS4 insulin receptor substrate 4
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KDR kinase insert domain receptor
KEAP1 kelch-like ECH-associated protein 1
KIDINS220 kinase D-interacting substrate, 220kDa
LRFN3 leucine rich repeat and fibronectin type III domain containing 3
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MAPK8 mitogen-activated protein kinase 8
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MET MET proto-oncogene, receptor tyrosine kinase
MGMT O-6-methylguanine-DNA methyltransferase
MMP2 matrix metallopeptidase 2
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYOD1 myogenic differentiation 1
MYOG myogenin (myogenic factor 4)
NCAM1 neural cell adhesion molecule 1
NCOA1 nuclear receptor coactivator 1
NCOA2 nuclear receptor coactivator 2
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR4A1 nuclear receptor subfamily 4, group A, member 1
OLIG2 oligodendrocyte lineage transcription factor 2
PANX1 pannexin 1
PAX3 paired box 3
PAX5 paired box 5
PAX7 paired box 7
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLK1 polo-like kinase 1
PRKCI protein kinase C, iota
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RASSF4 Ras association (RalGDS/AF-6) domain family member 4
RB1 retinoblastoma 1
RHD Rh blood group, D antigen
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNAI1 snail family zinc finger 1
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila)
SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila)
TAZ tafazzin
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TFPI2 tissue factor pathway inhibitor 2
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TP53 tumor protein p53
TP73 tumor protein p73
VEGFA vascular endothelial growth factor A
WWTR1 WW domain containing transcription regulator 1
XAGE1A X antigen family member 1A
XAGE1E X antigen family, member 1E
YAP1 Yes-associated protein 1