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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 BDNF brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
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 chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G EVI2A ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:41,520,000...41,524,103 JBrowse link
G FGFR1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G NF2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19587327, PMID:20406973 RGD:8547955, RGD:8547957 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
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 chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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 chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12675
    disease of anatomical entity 12213
      nervous system disease 9961
        peripheral nervous system disease 2367
          peripheral nervous system neoplasm 117
            cranial nerve neoplasm 15
              abducens nerve neoplasm 0
              acoustic neuroma + 13
              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 12675
    disease of cellular proliferation 5495
      cancer 4014
        organ system cancer 3852
          nervous system cancer 1544
            peripheral nervous system neoplasm 117
              cranial nerve neoplasm 15
                abducens nerve neoplasm 0
                acoustic neuroma + 13
                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.