Ependymoma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description The presence of an ependymoma of the central nervous system. (Human Phenotype Ontology, HP_0002888)
External Link https://www.disgenet.org/browser/0/1/0/C0796612
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Genes

224 genes associated with the disease Ependymoma 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
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ALK anaplastic lymphoma receptor tyrosine kinase
ANXA1 annexin A1
APC adenomatous polyposis coli
AQP1 aquaporin 1 (Colton blood group)
ARHGAP24 Rho GTPase activating protein 24
ARMC9 armadillo repeat containing 9
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
AZIN2 antizyme inhibitor 2
BCL7C B-cell CLL/lymphoma 7C
BDNF brain-derived neurotrophic factor
BEX1 brain expressed, X-linked 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
C11ORF95 chromosome 11 open reading frame 95
C1ORF194 chromosome 1 open reading frame 194
C21ORF33 chromosome 21 open reading frame 33
CACNG5 calcium channel, voltage-dependent, gamma subunit 5
CALCA calcitonin-related polypeptide alpha
CALCR calcitonin receptor
CALR calreticulin
CAPS calcyphosine
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CBY1 chibby homolog 1 (Drosophila)
CCND1 cyclin D1
CCR7 chemokine (C-C motif) receptor 7
CD151 CD151 molecule (Raph blood group)
CD274 CD274 molecule
CD34 CD34 molecule
CD38 CD38 molecule
CD44 CD44 molecule (Indian blood group)
CD99 CD99 molecule
CDK6 cyclin-dependent kinase 6
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CLDN5 claudin 5
CRHR1 corticotropin releasing hormone receptor 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL8 chemokine (C-X-C motif) ligand 8
CXORF67 chromosome X open reading frame 67
DAPK1 death-associated protein kinase 1
DAXX death-domain associated protein
DCX doublecortin
DICER1 dicer 1, ribonuclease type III
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
EBI3 Epstein-Barr virus induced 3
EGFR epidermal growth factor receptor
EPB41 erythrocyte membrane protein band 4.1
EPB41L3 erythrocyte membrane protein band 4.1-like 3
EPHB2 EPH receptor B2
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC1 excision repair cross-complementation group 1
ESX1 ESX homeobox 1
ETFA electron-transfer-flavoprotein, alpha polypeptide
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64)
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FHIT fragile histidine triad
FLT1 fms-related tyrosine kinase 1
FOXJ1 forkhead box J1
GADL1 glutamate decarboxylase-like 1
GDNF glial cell derived neurotrophic factor
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GLS2 glutaminase 2 (liver, mitochondrial)
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
HES1 hes family bHLH transcription factor 1
HES4 hes family bHLH transcription factor 4
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HIC1 hypermethylated in cancer 1
HOXA9 homeobox A9
HOXB13 homeobox B13
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFNG interferon, gamma
IGF2 insulin-like growth factor 2
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IGFBP5 insulin-like growth factor binding protein 5
IL18R1 interleukin 18 receptor 1
IL1R1 interleukin 1 receptor, type I
IL6 interleukin 6
IPO7 importin 7
JAG1 jagged 1
JAG2 jagged 2
JAK2 Janus kinase 2
KDR kinase insert domain receptor
KIF4A kinesin family member 4A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRT75 keratin 75, type II
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LOC102724023 ES1 protein homolog, mitochondrial
LOC102724428 serine/threonine-protein kinase SIK1
LRIG3 leucine-rich repeats and immunoglobulin-like domains 3
LRP1 low density lipoprotein receptor-related protein 1
MAMLD1 mastermind-like domain containing 1
MAP2 microtubule-associated protein 2
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MECOM MDS1 and EVI1 complex locus
MEN1 multiple endocrine neoplasia I
MET MET proto-oncogene, receptor tyrosine kinase
MGC57346-CRHR1 MGC57346-CRHR1 readthrough
MGMT O-6-methylguanine-DNA methyltransferase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKI67 marker of proliferation Ki-67
MLH1 mutL homolog 1
MME membrane metallo-endopeptidase
MSH2 mutS homolog 2
MSH3 mutS homolog 3
MSH6 mutS homolog 6
MUC1 mucin 1, cell surface associated
MVP major vault protein
MXD4 MAX dimerization protein 4
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NELL2 NEL-like 2 (chicken)
NES nestin
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFIC nuclear factor I/C (CCAAT-binding transcription factor)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGF nerve growth factor (beta polypeptide)
NOTCH1 notch 1
NUCLEOLIN nucleolin multifunctional protein
OLIG2 oligodendrocyte lineage transcription factor 2
OTX2 orthodenticle homeobox 2
PAX5 paired box 5
PAX6 paired box 6
PCNA proliferating cell nuclear antigen
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
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
PLG plasminogen
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PROM1 prominin 1
PSCA prostate stem cell antigen
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPRA protein tyrosine phosphatase, receptor type, A
PTPRS protein tyrosine phosphatase, receptor type, S
RAB3A RAB3A, member RAS oncogene family
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAD51 RAD51 recombinase
RARB retinoic acid receptor, beta
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RBL2 retinoblastoma-like 2
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RPSA ribosomal protein SA
RRM1 ribonucleotide reductase M1
RTBDN retbindin
RUNX1 runt-related transcription factor 1
S100A1 S100 calcium binding protein A1
S100A12 S100 calcium binding protein A12
S100A2 S100 calcium binding protein A2
S100A4 S100 calcium binding protein A4
S100A6 S100 calcium binding protein A6
S100B S100 calcium binding protein B
S1PR3 sphingosine-1-phosphate receptor 3
SETBP1 SET binding protein 1
SHC3 SHC (Src homology 2 domain containing) transforming protein 3
SHH sonic hedgehog
SIK1 salt-inducible kinase 1
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCG synuclein, gamma (breast cancer-specific protein 1)
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
SOX9 SRY (sex determining region Y)-box 9
SPINK1 serine peptidase inhibitor, Kazal type 1
SST somatostatin
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STC1 stanniocalcin 1
STMN1 stathmin 1
SYP synaptophysin
SYT1 synaptotagmin I
TDG thymine-DNA glycosylase
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
THBS1 thrombospondin 1
TIMP3 TIMP metallopeptidase inhibitor 3
TNC tenascin C
TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TP53 tumor protein p53
TP53INP1 tumor protein p53 inducible nuclear protein 1
TP73 tumor protein p73
TPR translocated promoter region, nuclear basket protein
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSPAN4 tetraspanin 4
TTR transthyretin
TUBB3 tubulin, beta 3 class III
TWIST1 twist family bHLH transcription factor 1
UBE2N ubiquitin-conjugating enzyme E2N
VEGFA vascular endothelial growth factor A
VEGFB vascular endothelial growth factor B
YAP1 Yes-associated protein 1
ZEB1 zinc finger E-box binding homeobox 1
ZFHX4 zinc finger homeobox 4
ZMYND10 zinc finger, MYND-type containing 10
ZNF148 zinc finger protein 148
ZNF668 zinc finger protein 668