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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 5:136,759,717...136,765,036
Ensembl chr 5:136,759,717...136,762,986
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Nf2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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:9536098 PMID:9643284 PMID:9718334 PMID:9817921 PMID:9817927 PMID:9884492 PMID:9931334 PMID:10691417 PMID:10712203 PMID:10777666 PMID:11085592 PMID:11535133 PMID:11668501 PMID:11756419 PMID:11779178 PMID:11809806 PMID:12118253 PMID:12136076 PMID:12566519 PMID:12695331 PMID:12807969 PMID:15598747 PMID:15635074 PMID:15645494 PMID:15684865 PMID:15692946 PMID:16532029 PMID:16983642 PMID:17576681 PMID:18033041 PMID:18173316 PMID:18670066 PMID:18766994 PMID:19451225 PMID:19968670 PMID:20553997 PMID:20831745 PMID:21671232 PMID:22012890 PMID:22081132 PMID:22295085 PMID:22325036 PMID:22703879 PMID:22711605 PMID:23348505 PMID:24030433 PMID:24033266 PMID:24309211 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:30594554 PMID:31089872 PMID:31273341 PMID:31370276 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:20406973, PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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 chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Nf1 neurofibromin 1 susceptibility ISO associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic glioma
ClinVar Annotator: match by term: Optic nerve glioma
ClinVar PMID:1568247 PMID:7981679 PMID:8264648 PMID:9003501 PMID:9219873 PMID:10607834 PMID:10712197 PMID:11857752 PMID:12095621 PMID:12807981 PMID:14722917 PMID:15146469 PMID:16380919 PMID:16513807 PMID:16786508 PMID:16944272 PMID:18546366 PMID:19845691 PMID:22155606 PMID:22190595 PMID:22807134 PMID:23244495 PMID:23404336 PMID:24033266 PMID:25324867 PMID:25325900 PMID:25741868 PMID:26467025 PMID:26478990 PMID:26840085 PMID:26908603 PMID:26969325 PMID:26973730 PMID:27171602 PMID:27322474 PMID:27482814 PMID:27716896 PMID:28008555 PMID:28492532 PMID:29290338 PMID:29415745 PMID:29483232 PMID:29673180 PMID:31595648 PMID:32107864, PMID:21278392 RGD:12789442 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        peripheral nervous system disease 2431
          peripheral nervous system neoplasm 126
            cranial nerve neoplasm 15
              abducens nerve neoplasm 0
              acoustic neuroma + 12
              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 16937
    disease of cellular proliferation 6909
      cancer 4848
        organ system cancer 4672
          nervous system cancer 1037
            peripheral nervous system neoplasm 126
              cranial nerve neoplasm 15
                abducens nerve neoplasm 0
                acoustic neuroma + 12
                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