Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:brain stem glioma
go back to main search page
Accession:DOID:4202 term browser browse the term
Definition:A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells. (DO)
Synonyms:exact_synonym: brainstem neuroglial tumor
 xref: NCI:C8501
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
brain stem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
diffuse midline glioma, H3 K27M-mutant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674 NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 More... NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of cellular proliferation 7049
      Neoplasms by Histologic Type 4773
        cell type cancer 3405
          high grade glioma 625
            brain stem glioma 6
              adult brain stem glioma + 0
              brain stem astrocytic neoplasm 0
              brain stem ependymoma 0
              diffuse midline glioma, H3 K27M-mutant 4
Path 2
Term Annotations click to browse term
  disease 17251
    disease of cellular proliferation 7049
      cancer 5012
        organ system cancer 4844
          nervous system cancer 1064
            central nervous system cancer 735
              brain cancer 702
                high grade glioma 625
                  brain glioma 22
                    brain stem glioma 6
                      adult brain stem glioma + 0
                      brain stem astrocytic neoplasm 0
                      brain stem ependymoma 0
                      diffuse midline glioma, H3 K27M-mutant 4
paths to the root