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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:IDH-mutant anaplastic astrocytoma
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Accession:DOID:0080875 term browser browse the term
Definition:An anaplastic astrocytoma carrying IDH mutations. (DO)
Synonyms:related_synonym: ASTROCYTOMA IDH-MUTANT
 xref: NCI:C185167


show annotations for term's descendants           Sort by:
IDH-mutant anaplastic astrocytoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:19404735 PMID:19781682 PMID:20305132 PMID:23555315 PMID:25085752 More... NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:19404735 PMID:19781682 PMID:20305132 PMID:23555315 PMID:25085752 More... NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr 6:12,633,715...12,649,678
Ensembl chr 6:6,878,237...6,896,127 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr 6:110,612,535...110,649,408
Ensembl chr 6:104,881,483...104,917,728 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr 5:134,812,158...134,841,821
Ensembl chr 5:129,575,378...129,605,070 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of cellular proliferation 7891
      Neoplasms by Histologic Type 5345
        cell type cancer 3783
          high grade glioma 636
            malignant astrocytoma 450
              anaplastic astrocytoma 11
                IDH-mutant anaplastic astrocytoma 6
                  astrocytoma, IDH-mutant, grade 2 0
                  astrocytoma, IDH-mutant, grade 3 0
                  astrocytoma, IDH-mutant, grade 4 0
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Nervous System Neoplasms 1586
          Central Nervous System Neoplasms 1382
            central nervous system cancer 732
              brain cancer 715
                supratentorial cancer 507
                  cerebrum cancer 454
                    malignant astrocytoma 450
                      anaplastic astrocytoma 11
                        IDH-mutant anaplastic astrocytoma 6
                          astrocytoma, IDH-mutant, grade 2 0
                          astrocytoma, IDH-mutant, grade 3 0
                          astrocytoma, IDH-mutant, grade 4 0
paths to the root