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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:acoustic neuroma
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Accession:DOID:12689 term browser browse the term
Definition:A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)
Synonyms:exact_synonym: Acoustic Neurilemoma;   Acoustic Neurilemomas;   Acoustic Neurinoma;   Acoustic Neurinomas;   Acoustic Neuromas;   Acoustic Schwannoma;   Acoustic Schwannomas;   Acoustic Tumor;   Acoustic Tumors;   Cerebellopontine Angle Acoustic Neuroma;   Melanocytic Vestibular Schwannoma;   Melanocytic Vestibular Schwannomas;   acoustic neurilemmoma;   acoustic neurilemmomas;   neurinoma of the acoustic nerve;   unilateral acoustic neuroma;   vestibular neurilemmoma;   vestibular schwannoma;   vestibular schwannomas
 primary_id: MESH:D009464
 xref: GARD:223;   NCI:C3276
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
Ensembl 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
Ensembl chrNW_004955476:6,772,088...6,822,588 		JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...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
Ensembl chrNW_004955437:6,254,309...6,261,479 		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
Ensembl chrNW_004955555:2,355,005...2,369,599 		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
Ensembl chrNW_004955463:14,013,247...14,064,111 		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
Ensembl chrNW_004955426:22,386,450...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
Ensembl chrNW_004955405:37,512,201...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
Ensembl chrNW_004955456:6,795,604...6,800,845 		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
Ensembl chrNW_004955507:6,289,576...6,304,193 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chrNW_004955455:3,862,804...3,950,669
Ensembl chrNW_004955455:3,862,347...3,951,891 		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
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,632,053...3,686,007
Ensembl chrNW_004955455:3,632,053...3,686,046 		JBrowse link
G Ascc2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:4,032,357...4,077,900
Ensembl chrNW_004955455:4,032,194...4,077,953 		JBrowse link
G Cabp7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,977,977...3,981,646
Ensembl chrNW_004955455:3,977,593...3,981,646 		JBrowse link
G Ccdc117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,019,373...3,034,891
Ensembl chrNW_004955455:3,019,710...3,034,559 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173 		JBrowse link
G CUNH22orf31 chromosome unknown C22orf31 homolog ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,290,397...3,302,619 JBrowse link
G Emid1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,514,350...3,564,584
Ensembl chrNW_004955455:3,514,397...3,563,904 		JBrowse link
G Ewsr1 EWS RNA binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,571,025...3,599,975
Ensembl chrNW_004955455:3,571,025...3,601,975 		JBrowse link
G Gas2l1 growth arrest specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,613,092...3,618,476
Ensembl chrNW_004955455:3,613,092...3,621,306 		JBrowse link
G Hscb HscB mitochondrial iron-sulfur cluster cochaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,005,617...3,013,393 JBrowse link
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,308,740...3,368,690
Ensembl chrNW_004955455:3,320,346...3,368,690 		JBrowse link
G LOC102011733 cytochrome b-c1 complex subunit 9 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:4,013,197...4,015,448
Ensembl chrNW_004955455:4,013,134...4,018,570 		JBrowse link
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,735,330...3,744,714
Ensembl chrNW_004955455:3,735,410...3,744,107 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 OMIM
ClinVar		 PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 More... NCBI chrNW_004955455:3,862,804...3,950,669
Ensembl chrNW_004955455:3,862,347...3,951,891 		JBrowse link
G Nipsnap1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,796,445...3,815,290
Ensembl chrNW_004955455:3,795,413...3,815,289 		JBrowse link
G Rasl10a RAS like family 10 member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,618,656...3,621,299
Ensembl chrNW_004955455:3,618,656...3,621,299 		JBrowse link
G Rhbdd3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,564,867...3,570,910
Ensembl chrNW_004955455:3,564,867...3,570,798 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097 		JBrowse link
G Thoc5 THO complex subunit 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,761,933...3,795,517
Ensembl chrNW_004955455:3,761,874...3,795,517 		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
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,037,885...3,041,827 JBrowse link
G Zmat5 zinc finger matrin-type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,981,753...4,013,138
Ensembl chrNW_004955455:3,980,134...4,011,664 		JBrowse link
G Znrf3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chrNW_004955455:3,066,957...3,289,836
Ensembl chrNW_004955455:3,228,603...3,286,290 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6160
      Otorhinolaryngologic Diseases 1561
        Otorhinolaryngologic Neoplasms 242
          acoustic neuroma 33
            vestibular schwannomatosis 23
Path 2
Term Annotations click to browse term
  disease 16063
    disease of cellular proliferation 6683
      Neoplasms by Site 6188
        organ system cancer 4626
          nervous system cancer 849
            peripheral nervous system neoplasm 164
              Nerve Sheath Neoplasms 81
                neuroma 46
                  neurilemmoma 46
                    acoustic neuroma 33
                      vestibular schwannomatosis 23
paths to the root