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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:cranial nerve neoplasm
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Accession:DOID:338 term browser browse the term
Definition:Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves.
Synonyms:exact_synonym: Benign Cranial Nerve Tumors;   Benign Cranial Neuroma;   Benign Cranial Neuromas;   Malignant Cranial Nerve Neoplasms;   Malignant Cranial Nerve Tumors;   benign cranial nerve neoplasms;   cranial nerve neoplasms;   neoplasm of cranial nerve;   tumor of the cranial nerve
 primary_id: MESH:D003390
 alt_id: RDO:0005288
 xref: NCI:C2963
For additional species annotation, visit the Alliance of Genome Resources.


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acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Artn artemin ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chrNW_004955537:3,460,176...3,464,335 JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chrNW_004955476:6,773,244...6,822,201 JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chrNW_004955432:22,258,262...22,292,403 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chrNW_004955437:6,254,638...6,261,278 JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chrNW_004955555:2,355,005...2,369,599 JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955481:6,346,024...6,350,216 JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chrNW_004955463:14,013,247...14,064,354 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chrNW_004955426:22,386,613...22,412,324 JBrowse link
G Igf1 insulin like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chrNW_004955405:37,505,830...37,582,152 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chrNW_004955456:6,795,560...6,802,147 JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chrNW_004955507:6,293,162...6,303,255 JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955481:6,145,855...6,404,179 JBrowse link
G Nf2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chrNW_004955455:3,862,804...3,950,669 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
neurofibromatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf2 neurofibromin 2 ISO OMIM NCBI chrNW_004955455:3,862,804...3,950,669 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:19587327, PMID:20406973 RGD:8547955, RGD:8547957 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
olfactory neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha severity ISO protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chrNW_004955466:8,000,311...8,022,497 JBrowse link
optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cr1 C-X3-C motif chemokine receptor 1 onset ISO associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chrNW_004955427:24,691,206...24,705,599 JBrowse link
G Nf1 neurofibromin 1 susceptibility ISO associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma
RGD
ClinVar
PMID:21278392, PMID:25741868, PMID:28492532, PMID:29483232 RGD:12789442 NCBI chrNW_004955481:6,145,855...6,404,179 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11810
    disease of anatomical entity 11364
      nervous system disease 9290
        peripheral nervous system disease 2260
          peripheral nervous system neoplasm 113
            cranial nerve neoplasm 16
              abducens nerve neoplasm 0
              acoustic neuroma + 14
              cranial nerve III tumor + 0
              cranial nerve malignant neoplasm + 1
              facial nerve neoplasm 0
              glossopharyngeal nerve neoplasm 0
              hypoglossal nerve neoplasm + 0
              optic nerve neoplasm + 2
              spinal accessory nerve neoplasm 0
              trigeminal nerve neoplasm + 0
              trochlear nerve neoplasm 0
              vagus nerve neoplasm 0
Path 2
Term Annotations click to browse term
  disease 11810
    disease of cellular proliferation 5129
      cancer 3761
        organ system cancer 3609
          nervous system cancer 1463
            peripheral nervous system neoplasm 113
              cranial nerve neoplasm 16
                abducens nerve neoplasm 0
                acoustic neuroma + 14
                cranial nerve III tumor + 0
                cranial nerve malignant neoplasm + 1
                facial nerve neoplasm 0
                glossopharyngeal nerve neoplasm 0
                hypoglossal nerve neoplasm + 0
                optic nerve neoplasm + 2
                spinal accessory nerve neoplasm 0
                trigeminal nerve neoplasm + 0
                trochlear nerve neoplasm 0
                vagus nerve neoplasm 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.