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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 IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 1:43,933,801...43,937,240
Ensembl chr 1:43,933,320...43,937,240
JBrowse link
G BDNF brain derived neurotrophic factor IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CAV1 caveolin 1 IEP RGD PMID:20881564 RGD:8661782 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IAGP DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility IAGP DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G EVI2A ecotropic viral integration site 2A IAGP ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr17:31,316,410...31,321,622
Ensembl chr17:31,316,410...31,321,749
Ensembl chr17:31,316,410...31,321,749
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 disease_progression IEP RGD PMID:15354013 RGD:11567268 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G GDNF glial cell derived neurotrophic factor IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility IEP protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 susceptibility IEP protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NF2 neurofibromin 2 IEP protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G VEGFA vascular endothelial growth factor A IDA RGD PMID:14660915 RGD:8547959 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
neurofibromatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF2 neurofibromin 2 IAGP
EXP
ClinVar Annotator: match by term: Neurofibromatosis, type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IMP
RGD PMID:20406973, PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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 IEP protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr14:61,695,513...61,748,259
Ensembl chr14:61,695,513...61,748,259
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 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
JBrowse link
G NF1 neurofibromin 1 susceptibility IAGP 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 chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 16335
      nervous system disease 12618
        peripheral nervous system disease 2610
          peripheral nervous system neoplasm 122
            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 17774
    disease of cellular proliferation 6722
      cancer 4550
        organ system cancer 4380
          nervous system cancer 1784
            peripheral nervous system neoplasm 122
              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.