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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   ganglioneuroblastoma
  

Disease ID 1800
Disease ganglioneuroblastoma
Definition
A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea.
Synonym
ganglioneuroblastoma (disorder)
ganglioneuroblastoma (morphologic abnormality)
ganglioneuroblastoma [disease/finding]
ganglioneuroblastoma, malignant
ganglioneuroblastomas
Orphanet
DOID
UMLS
C0206718
MeSH
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0014038  |  encephalitis  |  1
C0027819  |  neuroblastoma  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:33)
116  |  ADCYAP1  |  1.296  |  DISEASES
238  |  ALK  |  1.916  |  DISEASES
27063  |  ANKRD1  |  2.476  |  DISEASES
57126  |  CD177  |  1.393  |  DISEASES
965  |  CD58  |  1.163  |  DISEASES
1491  |  CTH  |  2.434  |  DISEASES
2027  |  ENO3  |  2.039  |  DISEASES
3266  |  ERAS  |  1.73  |  DISEASES
2130  |  EWSR1  |  1.541  |  DISEASES
2173  |  FABP7  |  1.932  |  DISEASES
2253  |  FGF8  |  1.449  |  DISEASES
85569  |  GALP  |  3.297  |  DISEASES
23560  |  GTPBP4  |  1.475  |  DISEASES
3112  |  HLA-DOB  |  1.925  |  DISEASES
5654  |  HTRA1  |  1.54  |  DISEASES
23028  |  KDM1A  |  1.399  |  DISEASES
4609  |  MYC  |  1.188  |  DISEASES
4763  |  NF1  |  1.791  |  DISEASES
4803  |  NGF  |  1.404  |  DISEASES
344022  |  NOTO  |  2.201  |  DISEASES
4914  |  NTRK1  |  2.941  |  DISEASES
10611  |  PDLIM5  |  1.902  |  DISEASES
9260  |  PDLIM7  |  1.559  |  DISEASES
5789  |  PTPRD  |  1.827  |  DISEASES
51684  |  SUFU  |  1.642  |  DISEASES
100507588  |  TGFBR3L  |  4.465  |  DISEASES
7054  |  TH  |  1.947  |  DISEASES
10381  |  TUBB3  |  2.273  |  DISEASES
7391  |  USF1  |  1.072  |  DISEASES
7432  |  VIP  |  4.86  |  DISEASES
10163  |  WASF2  |  1.28  |  DISEASES
10810  |  WASF3  |  2.957  |  DISEASES
7490  |  WT1  |  1.49  |  DISEASES
Locus(Waiting for update.)
Disease ID 1800
Disease ganglioneuroblastoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:5)
HP:0010543  |  Opsoclonus  |  1
HP:0001336  |  Myoclonic jerks  |  1
HP:0003006  |  Neuroblastoma  |  1
HP:0002383  |  Encephalitis  |  1
HP:0002666  |  Pheochromocytoma  |  1
Disease ID 1800
Disease ganglioneuroblastoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:6)
C1963091  |  diarrhea
C0745186  |  hypoventilation syndrome
C0700208  |  scoliosis
C0030472  |  paraneoplastic syndromes
C0030472  |  paraneoplastic syndrome
C0010481  |  cushing's syndrome
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1800
Disease ganglioneuroblastoma
Case(Waiting for update.)