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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
 alt_id: RDO:0006204
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 Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240281 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:25240281 NCBI chr 1:154,189,252...154,216,340
Ensembl chr 1:154,189,260...154,216,340
JBrowse link
G Foxr2 forkhead box R2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685747 NCBI chr  X:19,142,671...19,243,293
Ensembl chr  X:19,144,501...19,145,409
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression: : RGD PMID:9308731 RGD:2317564 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase disease_progression ISO protein:increased expression:tumor (human) RGD PMID:9308731 RGD:2317564 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20176786, PMID:25240281 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Pten phosphatase and tensin homolog disease_progression ISO RGD PMID:22700876 RGD:12859040 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240281, PMID:25305755 NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20176786 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 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 Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr10:66,870,048...66,873,948
Ensembl chr10:66,870,067...66,873,948
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 Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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
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: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510, PMID:21681106, PMID:27535533, PMID:28135719, PMID:30665703, PMID:30763456 NCBI chr10:67,531,989...67,551,237 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 ClinVar Annotator: match by OMIM:615670
ClinVar Annotator: match by term: Schwannomatosis
ClinVar Annotator: match by term: Schwannomatosis 2
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16356934, PMID:18072270, PMID:19582488, PMID:22105938, PMID:23401320, PMID:24362817, PMID:25335493, PMID:25480913, PMID:25741868, PMID:25795793, PMID:27472264, PMID:27856782, PMID:27921248, PMID:28295212, PMID:28492532, PMID:29384852, PMID:29409008, PMID:30368668, PMID:30442762, PMID:30442766, PMID:30481304, PMID:30859559, PMID:31128261, 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
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 chr10:56,000,494...56,009,582
Ensembl chr10:56,001,799...56,008,885
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA:increased expression:skin: RGD PMID:7692836 RGD:12910728 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Neurofibromas ClinVar PMID:21056691, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibromas
CTD
ClinVar
PMID:7655472, PMID:7981679, PMID:9783703, PMID:10678181, PMID:10712197, PMID:10862084, PMID:11857752, PMID:16835897, PMID:16944272, PMID:17311297, PMID:18546366, PMID:19449407, PMID:21354044, PMID:21520333, PMID:22965773, PMID:23460398, PMID:23668869, PMID:23758643, PMID:23913538, PMID:25119042, PMID:25324867, PMID:25741868, PMID:25788518, PMID:26056819, PMID:26467025, PMID:26514327, PMID:28068329, PMID:28492532, PMID:30311386, PMID:32581362, PMID:125305868 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Neurofibromas ClinVar PMID:12000816, PMID:12213855, PMID:15235042, PMID:15328326, PMID:17102084, PMID:18551016, PMID:19075037, PMID:19351833, PMID:19454582, PMID:20208144, PMID:21173220, PMID:22270996, PMID:22517554, PMID:22835832, PMID:23175444, PMID:23666964, PMID:23902947, PMID:24276837, PMID:25025441, PMID:25047027, PMID:25736212, PMID:25873086, PMID:25972245, PMID:28490599, PMID:28492532, PMID:29951630, PMID:30311386 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
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
neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: multiple neurofibromas ClinVar PMID:21056691, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: multiple neurofibromas
CTD
ClinVar
PMID:10712197, PMID:19449407, PMID:21520333, PMID:21949590, PMID:23913538, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nf2 neurofibromin 2 ISS OMIM:101000 | OMIM:162200 | OMIM:162210 | OMIM:162260 | OMIM:162270 MouseDO NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
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 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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:10980545, PMID:12807981, PMID:15257518, PMID:16283621, PMID:18183042, PMID:22241097, PMID:22837079, PMID:24033266, PMID:24232412, PMID:24357598, PMID:25205021, PMID:25480383, PMID:25541118, PMID:25631097, PMID:26178382, PMID:26189818, PMID:26458495, PMID:26740943, PMID:27629806, PMID:28492532 NCBI chr10:66,870,048...66,873,948
Ensembl chr10:66,870,067...66,873,948
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:10980545, PMID:12807981, PMID:15257518, PMID:16283621, PMID:18183042, PMID:22241097, PMID:22837079, PMID:24033266, PMID:24232412, PMID:24357598, PMID:25205021, PMID:25480383, PMID:25541118, PMID:25631097, PMID:25741868, PMID:26178382, PMID:26189818, PMID:26458495, PMID:26740943, PMID:27629806, PMID:28492532 NCBI chr10:66,856,980...66,858,598
Ensembl chr10:66,856,980...66,858,598
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar Annotator: match by term: Von Recklinghausen disease
ClinVar Annotator: match by term: Neurofibromatosis, familial spinal
ClinVar Annotator: match by term: NEUROFIBROMATOSIS, PERIPHERAL TYPE
ClinVar Annotator: match by OMIM:162200
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:190611, PMID:1071297, PMID:1287981, PMID:1302608, PMID:1483690, PMID:1568246, PMID:1568247, PMID:1587809, PMID:1719426, PMID:1745350, PMID:1757093, PMID:1770531, PMID:1783401, PMID:1937470, PMID:2114220, PMID:2948975, PMID:6025371, PMID:7311297, PMID:7581973, PMID:7586657, PMID:7607663, PMID:7633431, PMID:7649559, PMID:7655472, PMID:7874161, PMID:7903661, PMID:7904209, PMID:7981679, PMID:7981692, PMID:8069310, PMID:8116612, PMID:8242079, PMID:8264648, PMID:8385067, PMID:8437860, PMID:8544190, PMID:8628317, PMID:8664912, PMID:8807336, PMID:8829638, PMID:8834249, PMID:8837715, PMID:8845843, PMID:8931693, PMID:8957181, PMID:9003501, PMID:9042399, PMID:9101300, PMID:9109662, PMID:9132486, PMID:9150739, PMID:9177273, PMID:9180088, PMID:9195229, PMID:9219684, PMID:9298829, PMID:9302992, PMID:9375928, PMID:9385374, PMID:9452037, PMID:9463322, PMID:9475595, PMID:9529361, PMID:9544853, PMID:9545275, PMID:9639526, PMID:9643287, PMID:9654211, PMID:9668168, PMID:9687500, PMID:9691142, PMID:9783703, PMID:10076878, PMID:10090487, PMID:10336779, PMID:10451518, PMID:10494088, PMID:10543400, PMID:10587576, PMID:10607834, PMID:10631140, PMID:10633134, PMID:10677298, PMID:10678181, PMID:10712197, PMID:10721668, PMID:10726756, PMID:10862084, PMID:10874316, PMID:10980545, PMID:11115850, PMID:11137998, PMID:11258625, PMID:11292340, PMID:11409870, PMID:11431704, PMID:11459867, PMID:11476066, PMID:11704931, PMID:11726231, PMID:11735023, PMID:11857752, PMID:12095621, PMID:12112660, PMID:12403553, PMID:12438263, PMID:12483293, PMID:12522551, PMID:12552569, PMID:12566521, PMID:12624144, PMID:12687660, PMID:12746402, PMID:12787671, PMID:12807981, PMID:12808981, PMID:12822827, PMID:12872266, PMID:14513407, PMID:14517963, PMID:14569132, PMID:14605872, PMID:14635100, PMID:14722917, PMID:15060124, PMID:15146469, PMID:15221447, PMID:15257518, PMID:15338462, PMID:15520408, PMID:15523626, PMID:15523642, PMID:15627836, PMID:15833774, PMID:15846561, PMID:15863657, PMID:15948193, PMID:16005615, PMID:16138229, PMID:16199547, PMID:16283621, PMID:16380919, PMID:16461335, PMID:16479075, PMID:16513807, PMID:16542390, PMID:16544997, PMID:16740526, PMID:16773574, PMID:16786042, PMID:16786508, PMID:16835897, PMID:16870183, PMID:16941471, PMID:16944272, PMID:16961930, PMID:17103458, PMID:17105749, PMID:17114577, PMID:17160901, PMID:17209131, PMID:17295913, PMID:17311297, PMID:17369502, PMID:17406642, PMID:17426081, PMID:17514731, PMID:17551851, PMID:17712740, PMID:17726231, PMID:17914445, PMID:17960768, PMID:18041031, PMID:18055911, PMID:18172006, PMID:18183042, PMID:18183640, PMID:18196300, PMID:18484666, PMID:18503770, PMID:18546366, PMID:18800150, PMID:19061981, PMID:19076627, PMID:19117870, PMID:19120036, PMID:19142971, PMID:19221814, PMID:19241459, PMID:19292874, PMID:19449407, PMID:19539839, PMID:19665063, PMID:19738042, PMID:19763152, PMID:19785027, PMID:19845691, PMID:19920235, PMID:20142468, PMID:20186797, PMID:20307669, PMID:20358387, PMID:20602485, PMID:20605257, PMID:20844836, PMID:21031597, PMID:21089070, PMID:21089071, PMID:21271658, PMID:21278392, PMID:21280148, PMID:21354044, PMID:21362601, PMID:21394830, PMID:21501659, PMID:21512413, PMID:21520333, PMID:21532985, PMID:21567923, PMID:21618341, PMID:21732117, PMID:21822264, PMID:21838856, PMID:22034633, PMID:22041710, PMID:22090377, PMID:22105171, PMID:22108604, PMID:22155606, PMID:22159552, PMID:22190595, PMID:22207399, PMID:22222937, PMID:22241097, PMID:22406018, PMID:22429592, PMID:22604720, PMID:22608206, PMID:22617876, PMID:22664660, PMID:22703879, PMID:22807134, PMID:22837079, PMID:22911296, PMID:22925204, PMID:22962301, PMID:22965773, PMID:23010473, PMID:23047742, PMID:23165953, PMID:23222849, PMID:23244495, PMID:23322702, PMID:23354915, PMID:23404336, PMID:23407919, PMID:23460398, PMID:23583981, PMID:23621909, PMID:23624750, PMID:23656349, PMID:23668869, PMID:23758643, PMID:23812910, PMID:23832011, PMID:23906300, PMID:23913538, PMID:23954459, PMID:23999528, PMID:24033266, PMID:24218100, PMID:24219125, PMID:24232412, PMID:24357598, PMID:24413922, PMID:24448499, PMID:24586880, PMID:24676943, PMID:24694336, PMID:24710307, PMID:24711935, PMID:24728327, PMID:24789688, PMID:24803665, PMID:24922668, PMID:24932921, PMID:24951259, PMID:25074460, PMID:25156439, PMID:25205021, PMID:25211147, PMID:25240281, PMID:25293717, PMID:25324428, PMID:25324867, PMID:25325900, PMID:25326635, PMID:25326637, PMID:25356970, PMID:25370043, PMID:25403449, PMID:25480383, PMID:25525159, PMID:25541118, PMID:25612910, PMID:25624686, PMID:25631097, PMID:25741868, PMID:25788518, PMID:25810463, PMID:25951773, PMID:25966637, PMID:26000329, PMID:26056819, PMID:26076063, PMID:26155992, PMID:26178382, PMID:26189818, PMID:26230854, PMID:26331193, PMID:26345759, PMID:26380986, PMID:26458495, PMID:26467025, PMID:26478990, PMID:26489445, PMID:26509978, PMID:26510091, PMID:26514327, PMID:26635368, PMID:26659639, PMID:26706011, PMID:26740943, PMID:26758488, PMID:26840085, PMID:26908603, PMID:26962827, PMID:26969325, PMID:26973730, PMID:27069254, PMID:27074763, PMID:27170677, PMID:27171602, PMID:27234610, PMID:27322474, PMID:27482814, PMID:27617404, PMID:27629806, PMID:27716896, PMID:27791021, PMID:27793025, PMID:27838393, PMID:27854218, PMID:27862945, PMID:27959697, PMID:27980226, PMID:27986441, PMID:27999334, PMID:28008555, PMID:28068329, PMID:28213670, PMID:28422438, PMID:28492532, PMID:28529006, PMID:28706617, PMID:28873162, PMID:28891274, PMID:28924536, PMID:28955729, PMID:28961165, PMID:28976792, PMID:29100083, PMID:29290338, PMID:29415745, PMID:29449315, PMID:29483232, PMID:29489754, PMID:29522274, PMID:29566708, PMID:29618358, PMID:29673180, PMID:29685074, PMID:29872168, PMID:29914388, PMID:29952103, PMID:29957862, PMID:30001348, PMID:30014477, PMID:30046999, PMID:30087692, PMID:30093976, PMID:30124220, PMID:30190611, PMID:30262796, PMID:30287823, PMID:30290804, PMID:30291346, PMID:30308447, PMID:30311386, PMID:30530636, PMID:31301733, PMID:31347283, PMID:31370276, PMID:31533797, PMID:31595648, PMID:31717729, PMID:32126153, PMID:32566746, PMID:32581362, PMID:125305868, PMID:10591653, PMID:2134734 RGD:1302540, RGD:1580933 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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:10980545, PMID:12807981, PMID:15257518, PMID:16283621, PMID:18183042, PMID:22241097, PMID:22837079, PMID:24033266, PMID:24232412, PMID:24357598, PMID:25205021, PMID:25480383, PMID:25541118, PMID:25631097, PMID:26178382, PMID:26189818, PMID:26458495, PMID:26740943, PMID:27629806, PMID:28492532 NCBI chr10:66,845,654...66,848,388
Ensembl chr10:66,845,654...66,848,388
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 3:108,795,337...108,861,650
Ensembl chr 3:108,795,235...108,857,556
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
neurofibromatosis 2 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: 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: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 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: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
Neurofibromatosis, Familial Spinal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, familial spinal
ClinVar Annotator: match by OMIM:162210
OMIM
ClinVar
PMID:1568247, PMID:1745350, PMID:1757093, PMID:1770531, PMID:1783401, PMID:2114220, PMID:6025371, PMID:7607663, PMID:7649559, PMID:7655472, PMID:7874161, PMID:7903661, PMID:7981692, PMID:8069310, PMID:8264648, PMID:8385067, PMID:8544190, PMID:8845843, PMID:9003501, PMID:9109662, PMID:9132486, PMID:9150739, PMID:9219684, PMID:9302992, PMID:9375928, PMID:9385374, PMID:9463322, PMID:9475595, PMID:9529361, PMID:9545275, PMID:9654211, PMID:9668168, PMID:9687500, PMID:9691142, PMID:10076878, PMID:10090487, PMID:10494088, PMID:10543400, PMID:10607834, PMID:10678181, PMID:10712197, PMID:10721668, PMID:10726756, PMID:10862084, PMID:10980545, PMID:11137998, PMID:11409870, PMID:11704931, PMID:11857752, PMID:12112660, PMID:12522551, PMID:12552569, PMID:12807981, PMID:14569132, PMID:14722917, PMID:15060124, PMID:15146469, PMID:15221447, PMID:15863657, PMID:16138229, PMID:16199547, PMID:16380919, PMID:16479075, PMID:16542390, PMID:16544997, PMID:16773574, PMID:16786042, PMID:16786508, PMID:16835897, PMID:16870183, PMID:16944272, PMID:16961930, PMID:17105749, PMID:17311297, PMID:17369502, PMID:17726231, PMID:18041031, PMID:18172006, PMID:18183640, PMID:18484666, PMID:18546366, PMID:19117870, PMID:19120036, PMID:19142971, PMID:19221814, PMID:19292874, PMID:19539839, PMID:19920235, PMID:20142468, PMID:21089071, PMID:21271658, PMID:21354044, PMID:21520333, PMID:22041710, PMID:22108604, PMID:22155606, PMID:22207399, PMID:22429592, PMID:22604720, PMID:22703879, PMID:22807134, PMID:22925204, PMID:22962301, PMID:23047742, PMID:23165953, PMID:23244495, PMID:23354915, PMID:23460398, PMID:23656349, PMID:23668869, PMID:23758643, PMID:23812910, PMID:23913538, PMID:24033266, PMID:24218100, PMID:24219125, PMID:24232412, PMID:24357598, PMID:24694336, PMID:24728327, PMID:24789688, PMID:24803665, PMID:24922668, PMID:24932921, PMID:24951259, PMID:25074460, PMID:25324428, PMID:25325900, PMID:25326637, PMID:25370043, PMID:25403449, PMID:25541118, PMID:25741868, PMID:25810463, PMID:25951773, PMID:25966637, PMID:26000329, PMID:26056819, PMID:26155992, PMID:26178382, PMID:26467025, PMID:26489445, PMID:26510091, PMID:26635368, PMID:26706011, PMID:26740943, PMID:26758488, PMID:26962827, PMID:27069254, PMID:27170677, PMID:27322474, PMID:27716896, PMID:27793025, PMID:27838393, PMID:28213670, PMID:28492532, PMID:28873162, PMID:28891274, PMID:28976792, PMID:29290338, PMID:29415745, PMID:29483232, PMID:29522274, PMID:29872168, PMID:30014477, PMID:30287823, PMID:30290804, PMID:30308447, PMID:30311386, PMID:31533797, PMID:31595648, PMID:32126153, PMID:32566746 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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 chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
ClinVar Annotator: match by OMIM:601321
OMIM
ClinVar
PMID:190611, PMID:1568246, PMID:1770531, PMID:6025371, PMID:7586657, PMID:7904209, PMID:9375928, PMID:9654211, PMID:9691142, PMID:9783703, PMID:10090487, PMID:10678181, PMID:10712197, PMID:10726756, PMID:10862084, PMID:10980545, PMID:12522551, PMID:12552569, PMID:12707950, PMID:12807981, PMID:14569132, PMID:15060124, PMID:15146469, PMID:15221447, PMID:15863657, PMID:16138229, PMID:16199547, PMID:16542390, PMID:16786042, PMID:16835897, PMID:16944272, PMID:17105749, PMID:17160901, PMID:17369502, PMID:17726231, PMID:18041031, PMID:18172006, PMID:19117870, PMID:19539839, PMID:19845691, PMID:19920235, PMID:20142468, PMID:20602485, PMID:21089071, PMID:21354044, PMID:21520333, PMID:21532985, PMID:22041710, PMID:22155606, PMID:22429592, PMID:22604720, PMID:22703879, PMID:22962301, PMID:23047742, PMID:23165953, PMID:23244495, PMID:23354915, PMID:23460398, PMID:23656349, PMID:23668869, PMID:23758643, PMID:23812910, PMID:23913538, PMID:24033266, PMID:24218100, PMID:24219125, PMID:24728327, PMID:24789688, PMID:25074460, PMID:25324428, PMID:25325900, PMID:25541118, PMID:25741868, PMID:25951773, PMID:26000329, PMID:26056819, PMID:26155992, PMID:26178382, PMID:26467025, PMID:26489445, PMID:26510091, PMID:26740943, PMID:26758488, PMID:27069254, PMID:27170677, PMID:27322474, PMID:27793025, PMID:28213670, PMID:28492532, PMID:28873162, PMID:28976792, PMID:29483232, PMID:29872168, PMID:30190611, PMID:30287823, PMID:30308447, PMID:30311386, PMID:32566746 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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 chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Mxi1 MAX interactor 1, dimerization protein ISO ClinVar Annotator: match by null ClinVar PMID:10470286, PMID:10470286 RGD:1600205 NCBI chr 1:274,030,748...274,090,071
Ensembl chr 1:274,030,978...274,090,071
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16239399 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:peripheral nerve RGD PMID:10554031 RGD:8552377 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 1:82,550,892...82,580,761
Ensembl chr 1:82,549,420...82,580,761
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 ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis
ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots
OMIM
ClinVar
PMID:190611, PMID:1302608, PMID:1568246, PMID:1770531, PMID:6025371, PMID:7904209, PMID:8317503, PMID:9375928, PMID:9654211, PMID:9691142, PMID:10090487, PMID:10678181, PMID:10712197, PMID:10726756, PMID:10862084, PMID:10980545, PMID:12522551, PMID:12552569, PMID:12807981, PMID:14569132, PMID:15060124, PMID:15146469, PMID:15221447, PMID:15863657, PMID:16138229, PMID:16199547, PMID:16542390, PMID:16786042, PMID:16835897, PMID:16944272, PMID:17105749, PMID:17160901, PMID:17369502, PMID:17726231, PMID:18041031, PMID:18172006, PMID:19117870, PMID:19539839, PMID:19920235, PMID:20142468, PMID:20602485, PMID:21089071, PMID:21354044, PMID:21520333, PMID:21532985, PMID:22041710, PMID:22155606, PMID:22429592, PMID:22604720, PMID:22703879, PMID:22962301, PMID:23047742, PMID:23165953, PMID:23244495, PMID:23354915, PMID:23460398, PMID:23656349, PMID:23668869, PMID:23758643, PMID:23812910, PMID:23913538, PMID:24033266, PMID:24218100, PMID:24219125, PMID:24728327, PMID:24789688, PMID:25074460, PMID:25324428, PMID:25325900, PMID:25541118, PMID:25741868, PMID:25951773, PMID:26000329, PMID:26056819, PMID:26155992, PMID:26178382, PMID:26467025, PMID:26489445, PMID:26510091, PMID:26740943, PMID:26758488, PMID:27069254, PMID:27170677, PMID:27322474, PMID:27793025, PMID:28213670, PMID:28492532, PMID:28873162, PMID:28976792, PMID:29483232, PMID:29872168, PMID:30190611, PMID:30287823, PMID:30308447, PMID:30311386, PMID:32566746 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of cellular proliferation 5913
      Neoplasms by Histologic Type 3722
        Nerve Tissue Neoplasms 665
          Nerve Sheath Neoplasms 56
            Neurothekeoma 0
            neurofibroma + 22
            neuroma + 38
            peripheral nerve sheath neoplasm + 23
Path 2
Term Annotations click to browse term
  disease 16108
    disease of cellular proliferation 5913
      cancer 4236
        organ system cancer 4061
          nervous system cancer 1607
            peripheral nervous system neoplasm 130
              Nerve Sheath Neoplasms 56
                Neurothekeoma 0
                neurofibroma + 22
                neuroma + 38
                peripheral nerve sheath neoplasm + 23
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.