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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:schwannomatosis
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Accession:DOID:3204 term browser browse the term
Definition:A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. (DO)
Synonyms:exact_synonym: SWN;   congenital cutaneous neurilemmomatosis;   neurilemmomatosis;   neurinomatosis
 narrow_synonym: schwannomatosis, somatic
 primary_id: MESH:C536641
 xref: ICD10CM:Q85.03;   ICD9CM:237.73;   NCI:C6557;   OMIM:PS162091;   ORDO:93921
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO CTD Direct Evidence: marker/mechanism
DNA:multiple:multiple (human)
DNA, protein:multiple, multiple:multiple, blood (human)
ClinVar Annotator: match by term: Schwannomatosis		 CTD
ClinVar
RGD		 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... RGD:151708704, RGD:151708708, RGD:151708709 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO CTD Direct Evidence: marker/mechanism
DNA:multiple:multiple (human)
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)
ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis		 CTD
ClinVar
RGD		 PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:24362817 More... RGD:151708704, RGD:151708708, RGD:155804288 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
schwannomatosis 1 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: Schwannomatosis 1 ClinVar PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		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 term: Schwannomatosis 1, somatic OMIM
ClinVar		 PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More... NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
schwannomatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcriptional regulator, 1 susceptibility ISO ClinVar Annotator: match by term: Schwannomatosis 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More... NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor protein complex AP-1, beta 1 subunit ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,897,320...4,992,731
Ensembl chr11:4,936,824...4,992,791 		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 chr11:4,587,698...4,635,699
Ensembl chr11:4,587,747...4,635,699 		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 chr11:4,686,892...4,697,179
Ensembl chr11:4,686,892...4,696,778 		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 chr11:5,478,887...5,492,217
Ensembl chr11:5,478,887...5,492,187 		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 chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		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 chr11:5,056,265...5,102,322
Ensembl chr11:5,056,265...5,102,257 		JBrowse link
G Ewsr1 Ewing sarcoma breakpoint region 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266 		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 chr11:5,004,131...5,015,351
Ensembl chr11:5,004,132...5,015,327 		JBrowse link
G Gm30172 predicted gene, 30172 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,225,262...5,225,571 JBrowse link
G Hscb HscB 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 More... NCBI chr 5:110,976,945...110,987,647
Ensembl chr 5:110,976,936...110,987,643 		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 chr11:5,141,551...5,212,220
Ensembl chr11:5,141,552...5,211,558 		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 More... NCBI chr11:4,430,867...4,544,863
Ensembl chr11:4,430,868...4,544,863 		JBrowse link
G Nefh neurofilament, heavy polypeptide ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		JBrowse link
G Nf2 neurofibromin 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:multiple:multiple (human)
OMIM:101000
ClinVar Annotator: match by term: Neurofibromatosis, type 2		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 More... RGD:151708704, RGD:151708708 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		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 chr11:4,823,951...4,844,201
Ensembl chr11:4,823,951...4,844,200 		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 chr11:5,008,128...5,010,385
Ensembl chr11:5,008,128...5,010,385 		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 chr11:5,048,282...5,056,100
Ensembl chr11:5,048,926...5,056,093 		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 chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		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 More... NCBI chr11:4,845,339...4,878,867
Ensembl chr11:4,845,320...4,878,867 		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 More... NCBI chr11:4,651,968...4,654,344
Ensembl chr11:4,651,973...4,654,342 		JBrowse link
G Vegfa vascular endothelial growth factor A IMP
ISO		 RGD PMID:20406973 PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		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 chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893 		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 chr11:4,654,671...4,687,669
Ensembl chr11:4,654,678...4,687,669 		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 chr11:5,226,329...5,394,847
Ensembl chr11:5,226,324...5,394,847 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      RASopathy 257
        schwannomatosis 25
          schwannomatosis 1 2
          schwannomatosis 2 1
          vestibular schwannomatosis 24
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            skin disease 3826
              Genetic Skin Diseases 1847
                ectodermal dysplasia 544
                  Neurocutaneous Syndromes 361
                    neurofibromatosis 55
                      schwannomatosis 25
                        schwannomatosis 1 2
                        schwannomatosis 2 1
                        vestibular schwannomatosis 24
paths to the root