Neuroblastoma Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). (Experimental Factor Ontology, EFO_0000621)
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Genes

146 genes associated with the Neuroblastoma phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ADAM9 ADAM metallopeptidase domain 9
ADIRF adipogenesis regulatory factor
AGER advanced glycosylation end product-specific receptor
AIF1 allograft inflammatory factor 1
ALG10 ALG10, alpha-1,2-glucosyltransferase
ALK anaplastic lymphoma receptor tyrosine kinase
ANGPT4 angiopoietin 4
APOO apolipoprotein O
AQP10 aquaporin 10
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BARD1 BRCA1 associated RING domain 1
BMS1 BMS1 ribosome biogenesis factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD2 bromodomain containing 2
BTN3A2 butyrophilin, subfamily 3, member A2
C12ORF57 chromosome 12 open reading frame 57
CA9 carbonic anhydrase IX
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CASC15 cancer susceptibility candidate 15 (non-protein coding)
CASR calcium-sensing receptor
CCDC167 coiled-coil domain containing 167
CCDC22 coiled-coil domain containing 22
CCND3 cyclin D3
CCNY cyclin Y
CD5L CD5 molecule-like
CFL1 cofilin 1 (non-muscle)
CFP complement factor properdin
CLPTM1L CLPTM1-like
CNTFR ciliary neurotrophic factor receptor
COL11A2 collagen, type XI, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
CSPG4 chondroitin sulfate proteoglycan 4
CST8 cystatin 8 (cystatin-related epididymal specific)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4
DRD1 dopamine receptor D1
DUSP12 dual specificity phosphatase 12
DXO decapping exoribonuclease
EFNA3 ephrin-A3
EGFR epidermal growth factor receptor
ENO2 enolase 2 (gamma, neuronal)
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FGFR4 fibroblast growth factor receptor 4
FOCAD focadhesin
FRS3 fibroblast growth factor receptor substrate 3
FTCD formimidoyltransferase cyclodeaminase
GAP43 growth associated protein 43
GATA1 GATA binding protein 1 (globin transcription factor 1)
GCM1 glial cells missing homolog 1 (Drosophila)
GHR growth hormone receptor
GRPR gastrin-releasing peptide receptor
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DRA major histocompatibility complex, class II, DR alpha
HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12
HSPA9 heat shock 70kDa protein 9 (mortalin)
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL3 interleukin 3
IL31RA interleukin 31 receptor A
IL33 interleukin 33
IL6 interleukin 6
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
JAG1 jagged 1
KIAA1161 KIAA1161
KIAA1462 KIAA1462
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
KIR2DS3 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3
KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
KRT8 keratin 8, type II
LIN28B lin-28 homolog B (C. elegans)
LINC00654 long intergenic non-protein coding RNA 654
LMO1 LIM domain only 1 (rhombotin 1)
LMO2 LIM domain only 2 (rhombotin-like 1)
LMO3 LIM domain only 3 (rhombotin-like 2)
LMO4 LIM domain only 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MT-TS1 tRNA
MTPAP mitochondrial poly(A) polymerase
MYO10 myosin X
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NBN nibrin
NEFL neurofilament, light polypeptide
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OPRM1 opioid receptor, mu 1
P3H3 prolyl 3-hydroxylase 3
PCNT pericentrin
PDLIM1 PDZ and LIM domain 1
PHF1 PHD finger protein 1
PHOX2B paired-like homeobox 2b
PI4KB phosphatidylinositol 4-kinase, catalytic, beta
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX3 paired-like homeodomain 3
PTEN phosphatase and tensin homolog
PTMS parathymosin
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PYGB phosphorylase, glycogen; brain
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RNR1 RNA, ribosomal cluster 1
RRNAD1 ribosomal RNA adenine dimethylase domain containing 1
RRP1 ribosomal RNA processing 1
S100B S100 calcium binding protein B
SIGMAR1 sigma non-opioid intracellular receptor 1
SIT1 signaling threshold regulating transmembrane adaptor 1
SLC17A1 solute carrier family 17 (organic anion transporter), member 1
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC6A12 solute carrier family 6 (neurotransmitter transporter), member 12
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNX5 sorting nexin 5
SOD1 superoxide dismutase 1, soluble
SSX1 synovial sarcoma, X breakpoint 1
SYP synaptophysin
TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa
TAPBPL TAP binding protein-like
TFF2 trefoil factor 2
TMEM217 transmembrane protein 217
TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy
TNXB tenascin XB
TP53 tumor protein p53
TSPAN9 tetraspanin 9
VEGFA vascular endothelial growth factor A
VWA7 von Willebrand factor A domain containing 7
ZPBP2 zona pellucida binding protein 2
ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2