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PedAM

Pediatric Disease Annotations & Medicines



   gliomatosis cerebri
  

Disease ID 1157
Disease gliomatosis cerebri
Definition
A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)
Synonym
astrocytosis cerebri
gliomatosis
gliomatosis cerebri (morphologic abnormality)
Orphanet
DOID
UMLS
C0334576
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:3)
C1855995  |  l-2-hydroxyglutaric aciduria  |  1
C0014084  |  ollier disease  |  1
C0243010  |  viral encephalitis  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:42)
123263  |  MTFMT  |  DISEASES
4292  |  MLH1  |  DISEASES
4436  |  MSH2  |  DISEASES
2956  |  MSH6  |  DISEASES
968  |  CD68  |  DISEASES
2670  |  GFAP  |  DISEASES
3021  |  H3F3B  |  DISEASES
3417  |  IDH1  |  DISEASES
2581  |  GALC  |  DISEASES
6855  |  SYP  |  DISEASES
10000  |  AKT3  |  DISEASES
60482  |  SLC5A7  |  DISEASES
7297  |  TYK2  |  DISEASES
5395  |  PMS2  |  DISEASES
7157  |  TP53  |  DISEASES
1956  |  EGFR  |  DISEASES
2264  |  FGFR4  |  DISEASES
84315  |  MON1A  |  DISEASES
4255  |  MGMT  |  DISEASES
23209  |  MLC1  |  DISEASES
10215  |  OLIG2  |  DISEASES
3418  |  IDH2  |  DISEASES
1641  |  DCX  |  DISEASES
57142  |  RTN4  |  DISEASES
23583  |  SMUG1  |  DISEASES
5910  |  RAP1GDS1  |  DISEASES
4763  |  NF1  |  DISEASES
1969  |  EPHA2  |  DISEASES
3020  |  H3F3A  |  DISEASES
10763  |  NES  |  DISEASES
6280  |  S100A9  |  DISEASES
9118  |  INA  |  DISEASES
3897  |  L1CAM  |  DISEASES
5728  |  PTEN  |  DISEASES
7422  |  VEGFA  |  DISEASES
2170  |  FABP3  |  DISEASES
199  |  AIF1  |  DISEASES
974  |  CD79B  |  DISEASES
1267  |  CNP  |  DISEASES
57670  |  KIAA1549  |  DISEASES
4193  |  MDM2  |  DISEASES
79104  |  MEG8  |  DISEASES
Locus(Waiting for update.)
Disease ID 1157
Disease gliomatosis cerebri
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:3)
HP:0003150  |  Glutaric aciduria  |  1
HP:0002664  |  Neoplasia  |  1
HP:0040144  |  L-2-hydroxyglutaric aciduria  |  1
Disease ID 1157
Disease gliomatosis cerebri
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C0497327  |  dementia
C0036454  |  scotomas
C0019270  |  herniation
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121913500215164629118INAumls:C0334576BeFreeThese data strongly suggest that INA and IDH1(R132H) mutant protein immunohistochemical analysis is of a great prognostic value in biopsied GC.0.0002714422011IDH12208248388CT
rs121913500215164623417IDH1umls:C0334576BeFreeThese data strongly suggest that INA and IDH1(R132H) mutant protein immunohistochemical analysis is of a great prognostic value in biopsied GC.0.0010857672011IDH12208248388CT
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.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)