Neuroblastoma Gene Set

Dataset DISEASES Experimental Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
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

50 genes associated with the disease Neuroblastoma in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
BARD1 BRCA1 associated RING domain 1 1.987
LMO1 LIM domain only 1 (rhombotin 1) 1.905
RIC3 RIC3 acetylcholine receptor chaperone 1.905
STK33 serine/threonine kinase 33 1.905
PRL prolactin 1.896
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 1.827
CPZ carboxypeptidase Z 1.557
GPR78 G protein-coupled receptor 78 1.557
TRMT44 tRNA methyltransferase 44 homolog (S. cerevisiae) 1.557
HMX1 H6 family homeobox 1 1.557
TUBB3 tubulin, beta 3 class III 1.51
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 1.51
TCF25 transcription factor 25 (basic helix-loop-helix) 1.51
SPIRE2 spire-type actin nucleation factor 2 1.51
FANCA Fanconi anemia, complementation group A 1.51
RSRC1 arginine/serine-rich coiled-coil 1 1.476
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 1.439
MMP27 matrix metallopeptidase 27 1.356
MMP7 matrix metallopeptidase 7 1.356
MMP20 matrix metallopeptidase 20 1.356
LIN28B lin-28 homolog B (C. elegans) 1.21
SOX15 SRY (sex determining region Y)-box 15 1.119
EIF4A1 eukaryotic translation initiation factor 4A1 1.119
SAT2 spermidine/spermine N1-acetyltransferase family member 2 1.119
EFNB3 ephrin-B3 1.119
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide 1.119
CD68 CD68 molecule 1.119
MPDU1 mannose-P-dolichol utilization defect 1 1.119
WRAP53 WD repeat containing, antisense to TP53 1.119
DNAH2 dynein, axonemal, heavy chain 2 1.119
TP53 tumor protein p53 1.119
SHBG sex hormone-binding globulin 1.119
FXR2 fragile X mental retardation, autosomal homolog 2 1.119
GABPB2 GA binding protein transcription factor, beta subunit 2 1.04
CERS2 ceramide synthase 2 1.04
MINDY1 MINDY lysine 48 deubiquitinase 1 1.04
PRUNE1 prune exopolyphosphatase 1 1.04
CDC42SE1 CDC42 small effector 1 1.04
SETDB1 SET domain, bifurcated 1 1.04
WASL-DT WASL divergent transcript 1.04
ANXA9 annexin A9 1.04
BNIPL BCL2/adenovirus E1B 19kD interacting protein like 1.04
C1ORF56 chromosome 1 open reading frame 56 1.04
MLLT11 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 1.04
HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12 1.023
MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 0.935
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2 0.935
SLK STE20-like kinase 0.603
STN1 STN1 subunit of CST complex 0.603
SH3PXD2A SH3 and PX domains 2A 0.603