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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

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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:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002 NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002 NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182 		JBrowse link
G EPCAM epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr14:59,815,128...59,832,360
Ensembl chr14:59,815,064...59,832,229 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 PMID:28492532 NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307 		JBrowse link
G RAD54L RAD54 like ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr20:86,510,616...86,542,426
Ensembl chr20:86,507,248...86,542,663 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    disease of cellular proliferation 7094
      Neoplasms by Histologic Type 4937
        cell type cancer 3515
          high grade glioma 651
            malignant astrocytoma 410
              anaplastic astrocytoma 9
                IDH-mutant anaplastic astrocytoma 5
                  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 17472
    disease of anatomical entity 14863
      nervous system disease 12949
        Nervous System Neoplasms 1520
          Central Nervous System Neoplasms 1354
            central nervous system cancer 718
              brain cancer 705
                supratentorial cancer 443
                  cerebrum cancer 414
                    malignant astrocytoma 410
                      anaplastic astrocytoma 9
                        IDH-mutant anaplastic astrocytoma 5
                          astrocytoma, IDH-mutant, grade 2 0
                          astrocytoma, IDH-mutant, grade 3 0
                          astrocytoma, IDH-mutant, grade 4 0
paths to the root