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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:brain glioma
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Accession:DOID:0060108 term browser browse the term
Definition:A brain cancer that has_material_basis_in glial cells. (DO)
Synonyms:exact_synonym: Familial Glioma of Brain
 related_synonym: lower grade glioma
 primary_id: MESH:C564230


show annotations for term's descendants           Sort by:
brain glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3 ADAM metallopeptidase domain 3 ISO DNA:deletion RGD PMID:21138945 RGD:13831351 NCBI chr 8:25,167,248...25,216,393
Ensembl chr 8:25,167,241...25,215,868 		JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 IEP mRNA,protein:increased expression:brain: RGD PMID:21565182 RGD:14398497 NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Fadd Fas associated via death domain treatment ISO RGD PMID:27255231 RGD:13792502 NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200 		JBrowse link
G Fas Fas cell surface death receptor treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Foxa1 forkhead box A1 disease_progression ISO RGD PMID:23510544 RGD:151665742 NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26032618 RGD:13792685 NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430 		JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:brain (human) RGD PMID:33900414 RGD:151660356 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Mir21a microRNA 21a ISO human cells in mouse model; RNA:increased expression:brain (human) RGD PMID:25059666 RGD:152998875 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Naip2 NLR family, apoptosis inhibitory protein 2 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr13:100,280,571...100,338,630
Ensembl chr13:100,280,571...100,338,600 		JBrowse link
G Ptprb protein tyrosine phosphatase receptor type B ISO protein:increased expression:brain (human)
human cell in mouse model		 RGD PMID:33900414 PMID:16923162 RGD:151660356, RGD:151660368 NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain (human) RGD PMID:33900414 RGD:151660356 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 susceptibility ISO DNA:SNP:exon 8: p.T241M (rs861539) (Human) RGD PMID:18330515 RGD:401827274 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307 		JBrowse link
brain glioblastoma multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef2 eukaryotic translation elongation factor 2 ISO protein:increased expression:brain (human) RGD PMID:24589652 RGD:153297816 NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332 		JBrowse link
G Mir139 microRNA 139 ISO RNA:decreased expression:brain: RGD PMID:26449464 RGD:13838722 NCBI chr 7:101,124,583...101,124,650
Ensembl chr 7:101,124,583...101,124,650 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling IEP human, rat, and/or mouse glioma cells in a mouse model RGD PMID:30790292 RGD:150573813 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
brain stem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 IEP mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
chordoid glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkca protein kinase C, alpha ISO DNA:mutation:cds:c.1387G>C,p.D463H(human) RGD PMID:29476136 RGD:13782058 NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754 		JBrowse link
diffuse intrinsic pontine glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 More... NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 aristaless-like homeobox 4 ISO ClinVar Annotator: match by term: Optic nerve glioma ClinVar PMID:25741868 NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 onset IMP associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Nf1 neurofibromin 1 susceptibility ISO associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma		 ClinVar
RGD		 PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 More... RGD:12789442 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      Neoplasms by Histologic Type 5320
        cell type cancer 3840
          high grade glioma 708
            brain glioma 30
              brain ependymoma + 0
              brain glioblastoma multiforme 4
              brain oligodendroglioma + 0
              brain stem glioma + 4
              childhood cerebral astrocytoma 0
              chordoid glioma 1
              diencephalic astrocytoma 0
              optic nerve glioma + 3
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        Nervous System Neoplasms 1622
          nervous system cancer 965
            central nervous system cancer 781
              brain cancer 765
                high grade glioma 708
                  brain glioma 30
                    brain ependymoma + 0
                    brain glioblastoma multiforme 4
                    brain oligodendroglioma + 0
                    brain stem glioma + 4
                    childhood cerebral astrocytoma 0
                    chordoid glioma 1
                    diencephalic astrocytoma 0
                    optic nerve glioma + 3
paths to the root