neuroblastoma Gene Set

Dataset HPO Gene-Disease 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)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003006
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Genes

23 genes associated with the neuroblastoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ASCL1 achaete-scute family bHLH transcription factor 1
BDNF brain-derived neurotrophic factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
EDN3 endothelin 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GDNF glial cell derived neurotrophic factor
GPC3 glypican 3
GPC4 glypican 4
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NME1 NME/NM23 nucleoside diphosphate kinase 1
PALB2 partner and localizer of BRCA2
PHOX2B paired-like homeobox 2b
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PRDM16 PR domain containing 16
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RET ret proto-oncogene
RUNX1 runt-related transcription factor 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SKI SKI proto-oncogene