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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:neuroma
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Accession:DOID:2001 term browser browse the term
Definition:A tumor made up of nerve cells and nerve fibers. (Dorland, 27th ed)
Synonyms:exact_synonym: Neuromas
 primary_id: MESH:D009463;   RDO:0006203
 xref: NCI:C3275
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
malignant peripheral nerve sheath tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm4b lysine demethylase 4B ISO DNA:amplification:cds (human) RGD PMID:21785329 RGD:9587769 NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
JBrowse link
neurilemmoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad5 ATPase family, AAA domain containing 5 ISO mRNA:increased expression:neural tissue (human) RGD PMID:20844836 RGD:11552594 NCBI chr10:67,427,042...67,475,825
Ensembl chr10:67,427,066...67,473,649
JBrowse link
G Axl Axl receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chr 1:82,550,892...82,580,761
Ensembl chr 1:82,549,420...82,580,761
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO DNA,protein:deletion,decreased expression: : RGD PMID:10595918 RGD:1358481 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Eed embryonic ectoderm development ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 1:154,189,252...154,216,340
Ensembl chr 1:154,189,260...154,216,340
JBrowse link
G Kdr kinase insert domain receptor ISO mRNA:decreased expression:brain: RGD PMID:17570036 RGD:8552334 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:tumor (human) RGD PMID:22555941 RGD:6771228 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA,protein:increased expression:schwann cell RGD PMID:14963743 RGD:13208544 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Six1 SIX homeobox 1 ISO mRNA:increased expression:Schwann cell (human) RGD PMID:19901965 RGD:11561959 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannoma ClinVar PMID:18647326 PMID:22434358 PMID:22949514 PMID:24933152 PMID:25741868 PMID:28492532 PMID:29517885 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link
G Snca synuclein alpha IEP protein:increased expression:cytoplasm RGD PMID:11810180 RGD:6218996 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:25474318 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
neurilemmomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcription regulator 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis
ClinVar Annotator: match by term: Schwannomatosis 2
CTD
ClinVar
OMIM
PMID:16199547 PMID:24033266 PMID:24362817 PMID:25303977 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:27921248 PMID:28492532 PMID:29384852 PMID:29409008 PMID:29469822 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30564305 PMID:30664951 PMID:30732632 PMID:30859559 PMID:31128261 PMID:31182298 PMID:31219622 PMID:31438995 PMID:31825158 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by OMIM:162091
OMIM
ClinVar
PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by OMIM:162091
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCHWANNOMATOSIS 1, SOMATIC
OMIM
ClinVar
CTD
PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 PMID:19124645 PMID:19582488 PMID:20930055 PMID:22038540 PMID:22434358 PMID:22949514 PMID:24362817 PMID:24728327 PMID:24933152 PMID:25741868 PMID:26073604 PMID:28492532 PMID:29517885 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link
neurofibromatosis 2 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 PMID:28492532 NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
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 PMID:28492532 NCBI chr14:84,873,507...84,913,923
Ensembl chr14:84,876,781...84,913,617
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 PMID:28492532 NCBI chr14:84,968,125...84,978,242
Ensembl chr14:84,968,130...84,978,255
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 PMID:28492532 NCBI chr14:85,763,396...85,772,762
Ensembl chr14:85,763,397...85,772,762
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 PMID:28492532 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
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 PMID:28492532 NCBI chr14:85,357,221...85,400,396
Ensembl chr14:85,357,222...85,398,532
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 PMID:28492532 NCBI chr14:85,322,105...85,350,826
Ensembl chr14:85,322,296...85,350,948
Ensembl chr 4:85,322,296...85,350,948
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 PMID:28492532 NCBI chr14:85,308,443...85,318,475
Ensembl chr14:85,308,443...85,318,194
JBrowse link
G Hscb HscB mitochondrial iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr12:51,878,267...51,888,645
Ensembl chr12:51,878,153...51,888,669
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 PMID:28492532 NCBI chr14:85,441,209...85,503,661
Ensembl chr14:85,438,707...85,484,275
JBrowse link
G LOC102551828 uncharacterized LOC102551828 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr14:85,520,841...85,526,211 JBrowse link
G Mtmr3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr14:84,701,559...84,820,487
Ensembl chr14:84,701,559...84,820,415
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 PMID:28492532 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
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:10220142 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:16199547 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:28166811 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 Nipsnap1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr14:85,113,578...85,137,457
Ensembl chr14:85,113,578...85,137,454
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 PMID:28492532 NCBI chr14:85,311,833...85,313,211
Ensembl chr14:85,311,089...85,314,270
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 PMID:28492532 NCBI chr14:85,350,852...85,357,029
Ensembl chr14:85,351,358...85,357,023
JBrowse link
G Thoc5 THO complex 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr14:85,138,219...85,171,729
Ensembl chr14:85,142,279...85,171,726
JBrowse link
G Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr14:84,935,480...84,937,741
Ensembl chr14:84,935,486...84,937,725
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
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 PMID:28492532 NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
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 PMID:28492532 NCBI chr14:84,937,843...84,968,898
Ensembl chr14:84,953,786...84,969,116
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 PMID:28492532 NCBI chr14:85,527,099...85,586,294 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of cellular proliferation 6943
      Neoplasms by Site 6587
        Nervous System Neoplasms 1688
          nervous system benign neoplasm 711
            neuroma 58
              multiple mucosal neuroma 0
              neurilemmoma + 58
Path 2
Term Annotations click to browse term
  disease 17126
    disease of cellular proliferation 6943
      Neoplasms by Site 6587
        organ system cancer 4727
          nervous system cancer 1061
            peripheral nervous system neoplasm 151
              Nerve Sheath Neoplasms 75
                neuroma 58
                  multiple mucosal neuroma 0
                  neurilemmoma + 58
paths to the root