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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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:19404735 PMID:19781682 PMID:20305132 PMID:23555315 PMID:25085752 More... NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886 		JBrowse link
G EPCAM epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr2A:47,490,748...47,508,418
Ensembl chr2A:48,413,520...48,432,038 		JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 PMID:28492532 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G RAD54L RAD54 like ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr 1:45,549,586...45,581,711
Ensembl chr 1:46,905,598...46,936,259 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    disease of cellular proliferation 7465
      Neoplasms by Histologic Type 5132
        cell type cancer 3639
          high grade glioma 627
            malignant astrocytoma 447
              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 15835
    disease of anatomical entity 15491
      nervous system disease 13589
        Nervous System Neoplasms 1525
          Central Nervous System Neoplasms 1356
            central nervous system cancer 697
              brain cancer 681
                supratentorial cancer 481
                  cerebrum cancer 451
                    malignant astrocytoma 447
                      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