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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 chr 4:117,925,908...117,930,795
Ensembl chr 4:117,926,162...117,929,763
JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO RGD PMID:20881564 RGD:8661782 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 7:140,763,819...140,774,990
Ensembl chr 7:140,763,739...140,774,987
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Evi2a ecotropic viral integration site 2a ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr11:79,526,560...79,530,609
Ensembl chr11:79,526,560...79,530,609
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Nf2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr11:4,757,639...4,849,544
Ensembl chr11:4,765,845...4,849,536
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
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 ClinVar Annotator: match by term: Neurofibromatosis, type 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:101000
OMIM
ClinVar
CTD
PMID:4000972, PMID:7535084, PMID:7666400, PMID:7711726, PMID:7759081, PMID:7868131, PMID:7913580, PMID:7951231, PMID:8012353, PMID:8081368, PMID:8230593, PMID:8379998, PMID:8566958, PMID:8751853, PMID:8755919, PMID:8757035, PMID:8797533, PMID:8882871, PMID:8889506, PMID:9466988, PMID:9643284, PMID:9718334, PMID:9817921, PMID:9817927, PMID:9884492, PMID:10691417, PMID:10712203, PMID:10777666, PMID:11085592, PMID:11668501, PMID:11756419, PMID:11809806, PMID:12118253, PMID:12136076, PMID:12566519, PMID:12807969, PMID:15635074, PMID:15645494, PMID:15684865, PMID:15692946, PMID:16532029, PMID:16983642, PMID:18033041, PMID:18173316, PMID:18670066, PMID:18766994, PMID:19968670, PMID:20553997, PMID:20831745, PMID:21671232, PMID:22012890, PMID:22081132, PMID:22295085, PMID:22325036, PMID:22703879, PMID:22711605, PMID:24033266, PMID:24595234, PMID:24728327, PMID:24815379, PMID:25326635, PMID:25525159, PMID:25567352, PMID:25741868, PMID:25798586, PMID:25931164, PMID:26031996, PMID:26045165, PMID:26066488, PMID:26073919, PMID:26332594, PMID:26343386, PMID:26407091, PMID:26467025, PMID:27128293, PMID:27704245, PMID:28492532, PMID:29409008, PMID:29489754, PMID:30311386, PMID:31273341, PMID:31370276 NCBI chr11:4,757,639...4,849,544
Ensembl chr11:4,765,845...4,849,536
JBrowse link
G Vegfa vascular endothelial growth factor A IMP
ISO
RGD PMID:20406973, PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
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, alpha subunit severity ISO protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 onset IMP associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr 9:120,048,683...120,068,296
Ensembl chr 9:119,901,616...120,069,879
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 PMID:25741868, PMID:28492532, PMID:29483232, PMID:21278392 RGD:12789442 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13332
    disease of anatomical entity 12813
      nervous system disease 10373
        peripheral nervous system disease 2469
          peripheral nervous system neoplasm 120
            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 13332
    disease of cellular proliferation 5752
      cancer 4190
        organ system cancer 4022
          nervous system cancer 1599
            peripheral nervous system neoplasm 120
              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.