Rhabdoid Tumor Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term). (Orphanet Rare Disease Ontology, Orphanet_69077)
External Link https://www.disgenet.org/browser/0/1/0/C0854917
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Genes

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

Symbol Name
ACTB actin, beta
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALK anaplastic lymphoma receptor tyrosine kinase
ANGPT1 angiopoietin 1
BANF1 barrier to autointegration factor 1
BCL2 B-cell CLL/lymphoma 2
BCOR BCL6 corepressor
BCR breakpoint cluster region
BIN1 bridging integrator 1
BIRC2 baculoviral IAP repeat containing 2
BIRC3 baculoviral IAP repeat containing 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD2 bromodomain containing 2
BRD4 bromodomain containing 4
BRD9 bromodomain containing 9
CCND1 cyclin D1
CD44 CD44 molecule (Indian blood group)
CD6 CD6 molecule
CD99 CD99 molecule
CDK4 cyclin-dependent kinase 4
CDK9 cyclin-dependent kinase 9
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CIB1 calcium and integrin binding 1 (calmyrin)
CIC capicua transcriptional repressor
CLDN4 claudin 4
CLDN6 claudin 6
CNN1 calponin 1, basic, smooth muscle
CNTNAP2 contactin associated protein-like 2
COPB2 coatomer protein complex, subunit beta 2 (beta prime)
CROCC ciliary rootlet coiled-coil, rootletin
CRTC1 CREB regulated transcription coactivator 1
CRX cone-rod homeobox
CRYBB2 crystallin, beta B2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCR4 chemokine (C-X-C motif) receptor 4
DCDC2 doublecortin domain containing 2
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DLL4 delta-like 4 (Drosophila)
DMBX1 diencephalon/mesencephalon homeobox 1
DNER delta/notch-like EGF repeat containing
DUX4 double homeobox 4
E2F1 E2F transcription factor 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EPHA3 EPH receptor A3
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
EWSR1 EWS RNA-binding protein 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FOXO3 forkhead box O3
FRAS1 Fraser extracellular matrix complex subunit 1
FXYD5 FXYD domain containing ion transport regulator 5
FZD1 frizzled class receptor 1
FZD5 frizzled class receptor 5
GAB2 GRB2-associated binding protein 2
GJA1 gap junction protein, alpha 1, 43kDa
GPC3 glypican 3
GRB2 growth factor receptor-bound protein 2
HDAC8 histone deacetylase 8
HPR haptoglobin-related protein
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT8 keratin 8, type II
LIN28A lin-28 homolog A (C. elegans)
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRP5 low density lipoprotein receptor-related protein 5
LRRC4 leucine rich repeat containing 4
MCAM melanoma cell adhesion molecule
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MELK maternal embryonic leucine zipper kinase
MET MET proto-oncogene, receptor tyrosine kinase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKI67 marker of proliferation Ki-67
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYF5 myogenic factor 5
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSF N-ethylmaleimide-sensitive factor
NUTM1 NUT midline carcinoma, family member 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PGBD5 piggyBac transposable element derived 5
PHF5A PHD finger protein 5A
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
PLK1 polo-like kinase 1
PLK4 polo-like kinase 4
PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1
PREX1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PROM1 prominin 1
PRRT2 proline-rich transmembrane protein 2
PSPN persephin
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB36 RAB36, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RHD Rh blood group, D antigen
RPL10 ribosomal protein L10
RPL5 ribosomal protein L5
RSPH14 radial spoke head 14 homolog (Chlamydomonas)
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SLC12A9 solute carrier family 12, member 9
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, 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
SOAT1 sterol O-acyltransferase 1
SPP1 secreted phosphoprotein 1
SPRY2 sprouty homolog 2 (Drosophila)
STIM1 stromal interaction molecule 1
SYP synaptophysin
TAGLN transgelin
TAZ tafazzin
TGFA transforming growth factor, alpha
TLE1 transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TP53 tumor protein p53
USP5 ubiquitin specific peptidase 5 (isopeptidase T)
VCL vinculin
VIM vimentin
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
YAP1 Yes-associated protein 1