Embryonal Rhabdomyosarcoma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)|A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. There are three histologic types, spindle cell, botryoid and anaplastic. (Experimental Factor Ontology, EFO_0000437)
External Link https://www.disgenet.org/browser/0/1/0/C0206656
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Genes

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

Symbol Name
ACTB actin, beta
AGER advanced glycosylation end product-specific receptor
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALK anaplastic lymphoma receptor tyrosine kinase
ALKBH6 alkB, alkylation repair homolog 6 (E. coli)
AMER1 APC membrane recruitment protein 1
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
ARHGEF25 Rho guanine nucleotide exchange factor (GEF) 25
ARID1A AT rich interactive domain 1A (SWI-like)
BCOR BCL6 corepressor
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CD163 CD163 molecule
CD274 CD274 molecule
CDK4 cyclin-dependent kinase 4
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CIB2 calcium and integrin binding family member 2
COL11A2 collagen, type XI, alpha 2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CXCR4 chemokine (C-X-C motif) receptor 4
DES desmin
DICER1 dicer 1, ribonuclease type III
DMD dystrophin
DUX4 double homeobox 4
EDIL3 EGF-like repeats and discoidin I-like domains 3
EFNA1 ephrin-A1
EGFR epidermal growth factor receptor
EIF3K eukaryotic translation initiation factor 3, subunit K
EPHB2 EPH receptor B2
ERBB2 erb-b2 receptor tyrosine kinase 2
ETV6 ets variant 6
EWSR1 EWS RNA-binding protein 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGFR4 fibroblast growth factor receptor 4
FOXO1 forkhead box O1
GLI1 GLI family zinc finger 1
GRAP2 GRB2-related adaptor protein 2
HEY1 hes-related family bHLH transcription factor with YRPW motif 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HPSE heparanase
HRAS Harvey rat sarcoma viral oncogene homolog
IARS1 isoleucyl-tRNA synthetase 1
ICAM1 intercellular adhesion molecule 1
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
ILK integrin-linked kinase
JUP junction plakoglobin
KIDINS220 kinase D-interacting substrate, 220kDa
KRAS Kirsten rat sarcoma viral oncogene homolog
LRFN3 leucine rich repeat and fibronectin type III domain containing 3
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEF2A myocyte enhancer factor 2A
MEF2C myocyte enhancer factor 2C
MET MET proto-oncogene, receptor tyrosine kinase
MMP2 matrix metallopeptidase 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYF5 myogenic factor 5
MYOD1 myogenic differentiation 1
MYOG myogenin (myogenic factor 4)
NCOA1 nuclear receptor coactivator 1
NCOA2 nuclear receptor coactivator 2
NELL1 NEL-like 1 (chicken)
NOTCH1 notch 1
NR0B1 nuclear receptor subfamily 0, group B, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PARP1 poly (ADP-ribose) polymerase 1
PAX3 paired box 3
PAX7 paired box 7
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
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROM1 prominin 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
RHD Rh blood group, D antigen
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
SETD2 SET domain containing 2
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SLC22A18 solute carrier family 22, member 18
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMO smoothened, frizzled class receptor
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAI1 snail family zinc finger 1
SOS1 son of sevenless homolog 1 (Drosophila)
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila)
SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites
STATH statherin
SUFU suppressor of fused homolog (Drosophila)
SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila)
TAZ tafazzin
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
TH tyrosine hydroxylase
TP53 tumor protein p53
TSPAN31 tetraspanin 31
UROD uroporphyrinogen decarboxylase
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
WNT2 wingless-type MMTV integration site family member 2
WWTR1 WW domain containing transcription regulator 1
YAP1 Yes-associated protein 1
YBX1 Y box binding protein 1