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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:Nerve Sheath Neoplasms
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Accession:DOID:9004217 term browser browse the term
Definition:Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.
Synonyms:exact_synonym: nerve sheath neoplasm;   nerve sheath tumors;   peripheral nerve sheath neoplasm;   peripheral nerve sheath tumors;   tumors of the nerve sheath
 primary_id: MESH:D018317
For additional species annotation, visit the Alliance of Genome Resources.


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Nerve Sheath Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EED embryonic ectoderm development ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240281 NCBI chr21:13,260,062...13,289,511
Ensembl chr21:13,260,002...13,289,337
JBrowse link
G FOXR2 forkhead box R2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685747 NCBI chr  X:47,068,833...47,071,857
Ensembl chr  X:47,070,381...47,071,328
JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression: : RGD PMID:9308731 RGD:2317564 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression ISO protein:increased expression:tumor (human) RGD PMID:9308731 RGD:2317564 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20176786 PMID:25240281 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G PTEN phosphatase and tensin homolog disease_progression ISO RGD PMID:22700876 RGD:12859040 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240281 PMID:25305755 NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20176786 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
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
G BDNF brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
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 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G NF2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VAN ASPEREN SYNDROME
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 NCBI chr 9:40,794,772...40,809,022
Ensembl chr 9:40,795,297...40,808,737
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 chr20:54,713,900...54,843,991
Ensembl chr20:54,634,121...54,820,816
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 chr 9:40,869,778...40,917,976
Ensembl chr 9:40,870,924...40,915,629
JBrowse link
G AXL AXL receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chr 1:112,699,679...112,727,434
Ensembl chr 1:112,700,365...112,726,960
JBrowse link
G EED embryonic ectoderm development ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr21:13,260,062...13,289,511
Ensembl chr21:13,260,002...13,289,337
JBrowse link
G KDR kinase insert domain receptor ISO mRNA:decreased expression:brain: RGD PMID:17570036 RGD:8552334 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:tumor (human) RGD PMID:22555941 RGD:6771228 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression:schwann cell RGD PMID:14963743 RGD:13208544 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G SIX1 SIX homeobox 1 ISO mRNA:increased expression:Schwann cell (human) RGD PMID:19901965 RGD:11561959 NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534
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 chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:cytoplasm RGD PMID:11810180 RGD:6218996 NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:25474318 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
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 ClinVar Annotator: match by term: Schwannomatosis 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
G NF2 neurofibromin 2 ISO OMIM NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
JBrowse link
neurofibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM6B lysine demethylase 6B ISO mRNA, protein:increased expression:sciatic nerve (mouse) RGD PMID:23748155 RGD:9587842 NCBI chr 5:32,689,000...32,711,026
Ensembl chr 5:32,696,211...32,710,666
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:increased expression:skin: RGD PMID:7692836 RGD:12910728 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibroma
ClinVar Annotator: match by term: Neurofibromas
CTD
ClinVar
PMID:1568247 PMID:7581973 PMID:7981679 PMID:8264648 PMID:9003501 PMID:9219873 PMID:9536098 PMID:9783703 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10726756 PMID:10862084 PMID:11857752 PMID:12095621 PMID:14722917 PMID:15146469 PMID:15846561 PMID:16199547 PMID:16380919 PMID:16513807 PMID:16786508 PMID:16835897 PMID:16944272 PMID:17311297 PMID:17406642 PMID:17576681 PMID:18546366 PMID:19142971 PMID:19449407 PMID:19845691 PMID:21278392 PMID:22155606 PMID:22190595 PMID:22807134 PMID:22965773 PMID:23244495 PMID:23404336 PMID:23460398 PMID:23656349 PMID:23758643 PMID:23913538 PMID:24033266 PMID:24789688 PMID:25119042 PMID:25324867 PMID:25325900 PMID:25741868 PMID:25788518 PMID:26056819 PMID:26467025 PMID:26478990 PMID:26514327 PMID:26840085 PMID:26969325 PMID:27322474 PMID:27716896 PMID:27838393 PMID:28008555 PMID:28068329 PMID:28492532 PMID:29290338 PMID:29415745 PMID:29673180 PMID:31533651 PMID:31595648 PMID:32107864 PMID:32126153 PMID:32581362 PMID:125305868 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromas ClinVar PMID:17052965 PMID:21548061 PMID:24033266 PMID:24451042 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645
JBrowse link
neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: multiple neurofibromas
CTD
ClinVar
PMID:1568247 PMID:7581973 PMID:7981679 PMID:8264648 PMID:9003501 PMID:9219873 PMID:9536098 PMID:10607834 PMID:10712197 PMID:10726756 PMID:10862084 PMID:11857752 PMID:12095621 PMID:14722917 PMID:15146469 PMID:15846561 PMID:16380919 PMID:16513807 PMID:16786508 PMID:16835897 PMID:16944272 PMID:17406642 PMID:17576681 PMID:18546366 PMID:19142971 PMID:19845691 PMID:21278392 PMID:21949590 PMID:22155606 PMID:22190595 PMID:22807134 PMID:23244495 PMID:23404336 PMID:23656349 PMID:23913538 PMID:24033266 PMID:24789688 PMID:25325900 PMID:25741868 PMID:26056819 PMID:26467025 PMID:26478990 PMID:26840085 PMID:26969325 PMID:27322474 PMID:27716896 PMID:27838393 PMID:28008555 PMID:28492532 PMID:29290338 PMID:29415745 PMID:29673180 PMID:31595648 PMID:32107864 PMID:32126153 PMID:32581362 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
neurofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGLAP bone gamma-carboxyglutamate protein ISO protein:decreased expression:blood RGD PMID:22120694 RGD:6483542 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
JBrowse link
G EVI2A ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10712197 PMID:10980545 PMID:12807981 PMID:14722914 PMID:15257518 PMID:16283621 PMID:18183042 PMID:20513137 PMID:22241097 PMID:22837079 PMID:23532973 PMID:23913538 PMID:24033266 PMID:24232412 PMID:24357598 PMID:24958239 PMID:25205021 PMID:25480383 PMID:25541118 PMID:25631097 PMID:26178382 PMID:26189818 PMID:26458495 PMID:26740943 PMID:27629806 PMID:28492532 NCBI chr 9:41,520,000...41,524,103 JBrowse link
G EVI2B ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10712197 PMID:10980545 PMID:12807981 PMID:14722914 PMID:15257518 PMID:16283621 PMID:18183042 PMID:20513137 PMID:22241097 PMID:22837079 PMID:23532973 PMID:23913538 PMID:24033266 PMID:24232412 PMID:24357598 PMID:24958239 PMID:25205021 PMID:25480383 PMID:25541118 PMID:25631097 PMID:25741868 PMID:26178382 PMID:26189818 PMID:26458495 PMID:26740943 PMID:27629806 PMID:28492532 NCBI chr 9:41,526,232...41,538,453
Ensembl chr 9:41,535,738...41,537,108
JBrowse link
G NF1 neurofibromin 1 ISO OMIM NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G NF2 neurofibromin 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196
JBrowse link
G OMG oligodendrocyte myelin glycoprotein ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10712197 PMID:10980545 PMID:12807981 PMID:14722914 PMID:15257518 PMID:16283621 PMID:18183042 PMID:20513137 PMID:22241097 PMID:22837079 PMID:23532973 PMID:23913538 PMID:24033266 PMID:24232412 PMID:24357598 PMID:24958239 PMID:25205021 PMID:25480383 PMID:25541118 PMID:25631097 PMID:26178382 PMID:26189818 PMID:26458495 PMID:26740943 PMID:27629806 PMID:28492532 NCBI chr 9:41,545,724...41,548,430
Ensembl chr 9:41,546,736...41,548,058
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr30:5,594,327...5,716,082
Ensembl chr30:5,594,473...5,712,040
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr26:22,632,970...22,715,449
Ensembl chr26:22,630,670...22,689,996
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 chr26:22,967,880...23,009,600
Ensembl chr26:22,970,222...23,004,731
JBrowse link
G C26H22orf31 chromosome 26 C22orf31 homolog ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr26:22,398,094...22,400,780
Ensembl chr26:22,398,094...22,409,577
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 chr26:22,916,556...22,927,377
Ensembl chr26:22,916,480...22,924,979
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 chr26:22,145,773...22,158,835
Ensembl chr26:22,145,775...22,156,449
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 chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
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 chr26:22,520,921...22,572,250
Ensembl chr26:22,520,915...22,572,262
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 chr26:22,578,782...22,608,174
Ensembl chr26:22,578,848...22,608,174
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 chr26:22,615,531...22,620,605
Ensembl chr26:22,615,319...22,621,311
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 PMID:28492532 NCBI chr26:22,103,803...22,120,200
Ensembl chr26:22,103,845...22,120,198
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 chr26:22,408,397...22,481,646
Ensembl chr26:22,407,506...22,480,384
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 chr26:23,047,500...23,187,694
Ensembl chr26:23,047,345...23,186,262
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 chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G NF2 neurofibromin 2 ISO OMIM NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196
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 chr26:22,785,902...22,800,241
Ensembl chr26:22,786,987...22,800,206
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 chr26:22,620,755...22,623,251
Ensembl chr26:22,621,078...22,623,390
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 chr26:22,573,260...22,578,921
Ensembl chr26:22,573,316...22,577,683
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 chr26:22,748,857...22,785,288
Ensembl chr26:22,748,895...22,784,143
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 chr26:22,953,336...22,955,569
Ensembl chr26:22,953,331...22,955,569
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19587327 PMID:20406973 RGD:8547955 RGD:8547957 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr26:22,162,675...22,168,149
Ensembl chr26:22,163,222...22,168,105
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 chr26:22,926,327...22,953,189
Ensembl chr26:22,926,554...22,940,725
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 chr26:22,315,947...22,397,568
Ensembl chr26:22,334,998...22,394,228
JBrowse link
Neurofibromatosis, Familial Spinal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 ISO OMIM NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
neurofibromatosis-Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641
JBrowse link
G NF1 neurofibromin 1 ISO OMIM NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr30:5,594,327...5,716,082
Ensembl chr30:5,594,473...5,712,040
JBrowse link
neurofibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDR kinase insert domain receptor ISO RGD PMID:10554031 RGD:8552377 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G MXI1 MAX interactor 1, dimerization protein ISO ClinVar Annotator: match by term: Neurofibrosarcoma RGD
ClinVar
PMID:10470286 RGD:1600205 NCBI chr28:21,584,856...21,655,233
Ensembl chr28:21,584,638...21,652,920
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16239399 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:peripheral nerve RGD PMID:10554031 RGD:8552377 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
plexiform neurofibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXL AXL receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chr 1:112,699,679...112,727,434
Ensembl chr 1:112,700,365...112,726,960
JBrowse link
G NF1 neurofibromin 1 ISO associated with severe combined immunodeficiency, human cells in mouse model RGD PMID:17335073 RGD:126925763 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
Watson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 ISO OMIM NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13760
    disease of cellular proliferation 6541
      Neoplasms by Histologic Type 4563
        Nerve Tissue Neoplasms 662
          Nerve Sheath Neoplasms 64
            Neurothekeoma 0
            neurofibroma + 41
            neuroma + 47
            peripheral nerve sheath neoplasm + 42
Path 2
Term Annotations click to browse term
  disease 13760
    disease of cellular proliferation 6541
      cancer 4684
        organ system cancer 4529
          nervous system cancer 1002
            peripheral nervous system neoplasm 139
              Nerve Sheath Neoplasms 64
                Neurothekeoma 0
                neurofibroma + 41
                neuroma + 47
                peripheral nerve sheath neoplasm + 42
paths to the root