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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.


show annotations for term's descendants           Sort by:
 
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25240281 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G EED embryonic ectoderm development EXP CTD Direct Evidence: marker/mechanism CTD PMID:25240281 NCBI chr11:86,244,753...86,285,420
Ensembl chr11:86,244,753...86,278,813
JBrowse link
G FOXR2 forkhead box R2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685747 NCBI chr  X:55,623,400...55,626,192
Ensembl chr  X:55,623,400...55,626,192
JBrowse link
G HGF hepatocyte growth factor IEP protein:increased expression: : RGD PMID:9308731 RGD:2317564 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression IEP protein:increased expression:tumor (human) RGD PMID:9308731 RGD:2317564 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G NF1 neurofibromin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20176786 PMID:25240281 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PTEN phosphatase and tensin homolog disease_progression ISO RGD PMID:22700876 RGD:12859040 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:25240281 PMID:25305755 NCBI chr17:31,937,007...32,001,040
Ensembl chr17:31,937,007...32,001,038
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20176786 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARTN artemin IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 1:43,933,801...43,937,240
Ensembl chr 1:43,933,320...43,937,240
JBrowse link
G BDNF brain derived neurotrophic factor IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CAV1 caveolin 1 IEP RGD PMID:20881564 RGD:8661782 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IAGP DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility IAGP DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 disease_progression IEP RGD PMID:15354013 RGD:11567268 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G GDNF glial cell derived neurotrophic factor IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility IEP protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 susceptibility IEP protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G NF2 neurofibromin 2 IEP protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G VEGFA vascular endothelial growth factor A IDA RGD PMID:14660915 RGD:8547959 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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 EXP
IAGP
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 chr17:30,968,642...30,999,911
Ensembl chr17:30,970,984...30,999,911
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 IAGP DNA:amplification:cds (human) RGD PMID:21785329 RGD:9587769 NCBI chr19:4,969,087...5,153,603
Ensembl chr19:4,969,113...5,153,598
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 IEP mRNA:increased expression:neural tissue (human) RGD PMID:20844836 RGD:11552594 NCBI chr17:30,830,830...30,895,869
Ensembl chr17:30,831,966...30,895,869
JBrowse link
G AXL AXL receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP DNA,protein:deletion,decreased expression: : RGD PMID:10595918 RGD:1358481 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G EED embryonic ectoderm development EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:86,244,753...86,285,420
Ensembl chr11:86,244,753...86,278,813
JBrowse link
G KDR kinase insert domain receptor IEP mRNA:decreased expression:brain: RGD PMID:17570036 RGD:8552334 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G NF1 neurofibromin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity IEP protein:increased expression:tumor (human) RGD PMID:22555941 RGD:6771228 NCBI chr17:64,319,415...64,413,844
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G SERPINE1 serpin family E member 1 IEP mRNA,protein:increased expression:schwann cell RGD PMID:14963743 RGD:13208544 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SIX1 SIX homeobox 1 IEP mRNA:increased expression:Schwann cell (human) RGD PMID:19901965 RGD:11561959 NCBI chr14:60,643,421...60,649,489
Ensembl chr14:60,643,421...60,658,259
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ClinVar Annotator: match by term: Schwannoma ClinVar PMID:18647326 PMID:22434358 PMID:22949514 PMID:24933152 PMID:25741868 PMID:28492532 PMID:29517885 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:cytoplasm RGD PMID:11810180 RGD:6218996 NCBI chr 4:89,724,099...89,838,324
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:31,937,007...32,001,040
Ensembl chr17:31,937,007...32,001,038
JBrowse link
G WT1 WT1 transcription factor EXP CTD Direct Evidence: therapeutic CTD PMID:25474318 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
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 chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G NF2 neurofibromin 2 IAGP ClinVar Annotator: match by term: Schwannomatosis, somatic
ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar
OMIM
PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP
EXP
ClinVar Annotator: match by term: Schwannomatosis 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis 1, somatic
ClinVar
CTD
OMIM
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 chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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 chr17:7,834,210...7,854,796
Ensembl chr17:7,834,217...7,854,796
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IEP mRNA:increased expression:skin: RGD PMID:7692836 RGD:12910728 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,918...54,740,715
JBrowse link
G NF1 neurofibromin 1 EXP
IAGP
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 chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Neurofibromas ClinVar PMID:17052965 PMID:21548061 PMID:24033266 PMID:24451042 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:31,937,007...32,001,040
Ensembl chr17:31,937,007...32,001,038
JBrowse link
neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 EXP
IAGP
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 chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NF2 neurofibromin 2 ISS OMIM:101000 | OMIM:162200 | OMIM:162210 | OMIM:162260 | OMIM:162270 MouseDO NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
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 IEP protein:decreased expression:blood RGD PMID:22120694 RGD:6483542 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
JBrowse link
G EVI2A ecotropic viral integration site 2A IAGP 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 chr17:31,316,410...31,321,622
Ensembl chr17:31,316,410...31,321,749
JBrowse link
G EVI2B ecotropic viral integration site 2B IAGP 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 chr17:31,303,770...31,314,149
Ensembl chr17:31,303,770...31,314,105
JBrowse link
G LOC108281169 NF1 intron 1 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:15257518 PMID:18183042 PMID:22241097 PMID:22837079 PMID:24033266 PMID:25205021 PMID:25480383 PMID:25541118 PMID:26189818 PMID:26458495 PMID:26740943 PMID:27629806 PMID:28492532 NCBI chr17:31,150,750...31,151,062 JBrowse link
G LOC108281170 NF1 intron 2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:11857752 PMID:15257518 PMID:17311297 PMID:18183042 PMID:21520333 PMID:21838856 PMID:22241097 PMID:22837079 PMID:24033266 PMID:25205021 PMID:25480383 PMID:25541118 PMID:26189818 PMID:26458495 PMID:26740943 PMID:27629806 PMID:27999334 PMID:28492532 NCBI chr17:31,157,009...31,157,975 JBrowse link
G LOC108281180 NF1 intron 3 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:11857752 PMID:15257518 PMID:17311297 PMID:18183042 PMID:21520333 PMID:21838856 PMID:22241097 PMID:22837079 PMID:24033266 PMID:25205021 PMID:25480383 PMID:25541118 PMID:26189818 PMID:26458495 PMID:26740943 PMID:27629806 PMID:27999334 PMID:28492532 NCBI chr17:31,161,754...31,162,442 JBrowse link
G LOC108281181 NF1 intron 8 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:15257518 PMID:18183042 PMID:22241097 PMID:22837079 PMID:24033266 PMID:25205021 PMID:25480383 PMID:25541118 PMID:26189818 PMID:26458495 PMID:26740943 PMID:27629806 PMID:28492532 NCBI chr17:31,184,368...31,184,677 JBrowse link
G LOC108281182 NF1 intron 50 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10607834 PMID:10980545 PMID:12807981 PMID:15257518 PMID:16283621 PMID:18183042 PMID:18196300 PMID:22241097 PMID:22837079 PMID:23656349 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 chr17:31,351,403...31,351,715 JBrowse link
G LOC111811965 NF1 (neurofibromin 1) promoter region IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10712197 PMID:15257518 PMID:15523626 PMID:18183042 PMID:21354044 PMID:22241097 PMID:22837079 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24033266 PMID:25205021 PMID:25480383 PMID:25541118 PMID:25741868 PMID:26458495 PMID:26740943 PMID:26969325 PMID:27322474 PMID:27629806 PMID:28492532 PMID:29489754 NCBI chr17:31,093,605...31,095,366 JBrowse link
G NF1 neurofibromin 1 ISO
IAGP
EXP
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar Annotator: match by term: Von Recklinghausen disease
ClinVar Annotator: match by term: Neurofibromatosis, familial spinal
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:1783401 PMID:1937470 PMID:2114220 PMID:2948975 PMID:4633999 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:9219873 PMID:9298829 PMID:9302992 PMID:9385374 PMID:9452037 PMID:9463322 PMID:9475595 PMID:9529361 PMID:9536098 PMID:9544853 PMID:9545275 PMID:9639526 PMID:9643287 PMID:9654211 PMID:9668168 PMID:9687500 PMID:9691142 PMID:9783703 PMID:10076878 PMID:10090487 PMID:10220149 PMID:10336779 PMID:10451518 PMID:10494088 PMID:10534774 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:11967553 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:14722914 PMID:14722917 PMID:15060124 PMID:15146469 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:16786508 PMID:16825284 PMID:16835897 PMID:16870183 PMID:16941471 PMID:16944272 PMID:16961930 PMID:17103458 PMID:17114577 PMID:17160901 PMID:17209131 PMID:17295913 PMID:17311297 PMID:17353900 PMID:17406642 PMID:17426081 PMID:17514731 PMID:17551851 PMID:17576681 PMID:17712740 PMID:17726231 PMID:17889038 PMID:17914445 PMID:17960768 PMID:18000842 PMID:18041031 PMID:18055911 PMID:18183042 PMID:18183640 PMID:18196300 PMID:18484666 PMID:18503770 PMID:18546366 PMID:18800150 PMID:19061981 PMID:19076627 PMID:19120036 PMID:19142971 PMID:19221814 PMID:19241459 PMID:19292874 PMID:19449407 PMID:19665063 PMID:19738042 PMID:19763152 PMID:19785027 PMID:19845691 PMID:20186797 PMID:20301288 PMID:20307669 PMID:20358387 PMID:20513137 PMID:20602485 PMID:20605257 PMID:20844836 PMID:21031597 PMID:21089070 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:22090377 PMID:22105171 PMID:22108604 PMID:22155606 PMID:22159552 PMID:22190595 PMID:22207399 PMID:22222937 PMID:22241097 PMID:22406018 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:23175693 PMID:23222849 PMID:23244495 PMID:23322702 PMID:23404336 PMID:23407919 PMID:23460398 PMID:23532973 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: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:24958239 PMID:25074460 PMID:25156439 PMID:25205021 PMID:25211147 PMID:25240281 PMID:25293717 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:25640679 PMID:25741868 PMID:25788518 PMID:25810463 PMID:25834617 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:26556299 PMID:26580448 PMID:26635368 PMID:26659639 PMID:26706011 PMID:26740943 PMID:26758488 PMID:26822949 PMID:26840085 PMID:26908603 PMID:26962827 PMID:26969325 PMID:26973730 PMID:27069254 PMID:27074763 PMID:27171602 PMID:27234610 PMID:27322474 PMID:27482814 PMID:27617404 PMID:27629806 PMID:27716896 PMID:27791021 PMID:27793025 PMID:27838393 PMID:27862945 PMID:27959697 PMID:27980226 PMID:27986441 PMID:27999334 PMID:28008555 PMID:28068329 PMID:28130400 PMID:28152038 PMID:28166811 PMID:28422438 PMID:28492532 PMID:28529006 PMID:28706617 PMID:28873162 PMID:28891274 PMID:28924536 PMID:28955729 PMID:28961165 PMID:28976792 PMID:29082380 PMID:29089047 PMID:29100083 PMID:29290338 PMID:29415745 PMID:29449315 PMID:29470806 PMID:29471550 PMID:29483232 PMID:29489754 PMID:29498099 PMID:29522274 PMID:29566708 PMID:29618358 PMID:29620724 PMID:29673180 PMID:29680440 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:30530636 PMID:31159747 PMID:31201679 PMID:31301733 PMID:31347283 PMID:31370276 PMID:31397088 PMID:31422574 PMID:31443423 PMID:31533651 PMID:31533797 PMID:31573083 PMID:31595648 PMID:31717729 PMID:31730495 PMID:31766501 PMID:31882575 PMID:32107864 PMID:32126153 PMID:32566746 PMID:32573669 PMID:32581362 PMID:32860008 PMID:125305868, PMID:10591653, PMID:2134734 RGD:1302540, RGD:1580933 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NF2 neurofibromin 2 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G OMG oligodendrocyte myelin glycoprotein IAGP 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 chr17:31,294,647...31,297,239
Ensembl chr17:31,272,013...31,297,539
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr15:38,252,087...38,357,249
Ensembl chr15:38,252,836...38,357,249
JBrowse link
G VEGFA vascular endothelial growth factor A IEP mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,327,680...29,388,570
Ensembl chr22:29,327,680...29,388,583
JBrowse link
G ASCC2 activating signal cointegrator 1 complex subunit 2 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,788,608...29,838,282
Ensembl chr22:29,788,609...29,838,304
JBrowse link
G C22orf31 chromosome 22 open reading frame 31 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,058,672...29,073,943
Ensembl chr22:29,058,672...29,061,831
JBrowse link
G CABP7 calcium binding protein 7 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,720,003...29,731,833
Ensembl chr22:29,720,003...29,731,833
JBrowse link
G CCDC117 coiled-coil domain containing 117 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:28,772,695...28,789,301
Ensembl chr22:28,772,674...28,789,301
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:28,687,743...28,741,866
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G EMID1 EMI domain containing 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,205,896...29,259,597
Ensembl chr22:29,205,896...29,259,597
JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,268,254...29,300,523
Ensembl chr22:29,268,009...29,300,525
JBrowse link
G GAS2L1 growth arrest specific 2 like 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,306,650...29,312,787
Ensembl chr22:29,306,582...29,312,785
JBrowse link
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:28,741,992...28,757,510
Ensembl chr22:28,742,039...28,757,515
JBrowse link
G KREMEN1 kringle containing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,073,035...29,168,333
Ensembl chr22:29,073,035...29,168,333
JBrowse link
G MTMR3 myotubularin related protein 3 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,883,174...30,030,868
Ensembl chr22:29,883,169...30,030,868
JBrowse link
G NEFH neurofilament heavy chain IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G NF2 neurofibromin 2 IAGP
EXP
ClinVar Annotator: match by term: Neurofibromatosis, type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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:28873162 PMID:29409008 PMID:29489754 PMID:30594554 PMID:31089872 PMID:31273341 PMID:31370276 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G NIPSNAP1 nipsnap homolog 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,554,808...29,581,113
Ensembl chr22:29,554,808...29,581,327
JBrowse link
G RASL10A RAS like family 10 member A IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,312,933...29,319,618
Ensembl chr22:29,312,933...29,319,679
JBrowse link
G RFPL1 ret finger protein like 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,387,909...29,442,455
Ensembl chr22:29,438,583...29,442,455
JBrowse link
G RFPL1S RFPL1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,437,015...29,442,129
Ensembl chr22:29,436,534...29,478,868
JBrowse link
G RHBDD3 rhomboid domain containing 3 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,259,852...29,268,213
Ensembl chr22:29,259,872...29,268,209
JBrowse link
G THOC5 THO complex 5 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,505,879...29,553,760
Ensembl chr22:29,505,879...29,555,216
JBrowse link
G UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,767,369...29,770,413
Ensembl chr22:29,767,369...29,770,413
JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IMP
RGD PMID:20406973, PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G XBP1 X-box binding protein 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597
JBrowse link
G ZMAT5 zinc finger matrin-type 5 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:29,730,956...29,767,007
Ensembl chr22:29,730,956...29,767,011
JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 NCBI chr22:28,800,657...29,057,488
Ensembl chr22:28,883,572...29,057,488
JBrowse link
Neurofibromatosis, Familial Spinal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111811965 NF1 (neurofibromin 1) promoter region IAGP ClinVar Annotator: match by term: Neurofibromatosis, familial spinal ClinVar PMID:25741868 NCBI chr17:31,093,605...31,095,366 JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, familial spinal
ClinVar Annotator: match by term: Spinal neurofibromas
ClinVar
OMIM
PMID:1568247 PMID:1745350 PMID:1757093 PMID:1783401 PMID:2114220 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:9219873 PMID:9302992 PMID:9385374 PMID:9463322 PMID:9475595 PMID:9529361 PMID:9536098 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:12095621 PMID:12112660 PMID:12522551 PMID:12552569 PMID:12807981 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15863657 PMID:16138229 PMID:16199547 PMID:16380919 PMID:16479075 PMID:16513807 PMID:16544997 PMID:16773574 PMID:16786508 PMID:16835897 PMID:16870183 PMID:16944272 PMID:16961930 PMID:17311297 PMID:17576681 PMID:17726231 PMID:18041031 PMID:18183640 PMID:18484666 PMID:18546366 PMID:19120036 PMID:19142971 PMID:19221814 PMID:19292874 PMID:21271658 PMID:21354044 PMID:21520333 PMID:22108604 PMID:22155606 PMID:22207399 PMID:22703879 PMID:22807134 PMID:22925204 PMID:22962301 PMID:23047742 PMID:23244495 PMID:23460398 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24232412 PMID:24357598 PMID:24694336 PMID:24728327 PMID:24789688 PMID:24803665 PMID:24922668 PMID:24932921 PMID:24951259 PMID:25074460 PMID:25325900 PMID:25326637 PMID:25370043 PMID:25403449 PMID:25541118 PMID:25741868 PMID:25810463 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:26840085 PMID:26962827 PMID:27069254 PMID:27322474 PMID:27716896 PMID:27793025 PMID:27838393 PMID:28166811 PMID:28492532 PMID:28873162 PMID:28891274 PMID:28976792 PMID:29290338 PMID:29415745 PMID:29483232 PMID:29522274 PMID:29673180 PMID:29872168 PMID:30014477 PMID:30287823 PMID:30290804 PMID:31159747 PMID:31370276 PMID:31422574 PMID:31533797 PMID:31595648 PMID:31730495 PMID:32107864 PMID:32126153 PMID:32566746 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
neurofibromatosis-Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111811965 NF1 (neurofibromin 1) promoter region IAGP ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 NCBI chr17:31,093,605...31,095,366 JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr19:4,090,321...4,124,184
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype
ClinVar
OMIM
PMID:190611 PMID:1568246 PMID:1568247 PMID:7586657 PMID:7904209 PMID:8264648 PMID:9003501 PMID:9150739 PMID:9219873 PMID:9475595 PMID:9536098 PMID:9654211 PMID:9691142 PMID:9783703 PMID:10090487 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10726756 PMID:10862084 PMID:10980545 PMID:11857752 PMID:12095621 PMID:12522551 PMID:12552569 PMID:12707950 PMID:12807981 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15863657 PMID:16138229 PMID:16199547 PMID:16380919 PMID:16513807 PMID:16542390 PMID:16786508 PMID:16944272 PMID:16961930 PMID:17160901 PMID:17576681 PMID:17726231 PMID:18041031 PMID:18484666 PMID:18546366 PMID:19142971 PMID:19845691 PMID:20602485 PMID:21354044 PMID:21520333 PMID:21532985 PMID:22155606 PMID:22703879 PMID:22807134 PMID:22962301 PMID:23047742 PMID:23244495 PMID:23460398 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24728327 PMID:24789688 PMID:24932921 PMID:25074460 PMID:25325900 PMID:25403449 PMID:25541118 PMID:25741868 PMID:26000329 PMID:26056819 PMID:26155992 PMID:26467025 PMID:26489445 PMID:26510091 PMID:26740943 PMID:26840085 PMID:27069254 PMID:27322474 PMID:27716896 PMID:27793025 PMID:28166811 PMID:28492532 PMID:28873162 PMID:28976792 PMID:29290338 PMID:29415745 PMID:29483232 PMID:29673180 PMID:29872168 PMID:30190611 PMID:30287823 PMID:30308447 PMID:31159747 PMID:31422574 PMID:31595648 PMID:32107864 PMID:32566746 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr15:38,252,087...38,357,249
Ensembl chr15:38,252,836...38,357,249
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 chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G MXI1 MAX interactor 1, dimerization protein IAGP ClinVar Annotator: match by term: Neurofibrosarcoma ClinVar PMID:10470286, PMID:10470286 RGD:1600205 NCBI chr10:110,207,605...110,287,365
Ensembl chr10:110,207,605...110,287,365
JBrowse link
G NRAS NRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16239399 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:peripheral nerve RGD PMID:10554031 RGD:8552377 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766
JBrowse link
G NF1 neurofibromin 1 IMP associated with severe combined immunodeficiency, human cells in mouse model RGD PMID:17335073 RGD:126925763 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
Watson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111811965 NF1 (neurofibromin 1) promoter region IAGP ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis ClinVar PMID:25741868 NCBI chr17:31,093,605...31,095,366 JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis
ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots
ClinVar
OMIM
PMID:190611 PMID:1302608 PMID:1568246 PMID:1568247 PMID:7904209 PMID:8264648 PMID:8317503 PMID:9003501 PMID:9150739 PMID:9219873 PMID:9475595 PMID:9536098 PMID:9654211 PMID:9691142 PMID:10090487 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10726756 PMID:10862084 PMID:10980545 PMID:11857752 PMID:12095621 PMID:12522551 PMID:12552569 PMID:12807981 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15863657 PMID:16138229 PMID:16199547 PMID:16380919 PMID:16513807 PMID:16542390 PMID:16786508 PMID:16944272 PMID:16961930 PMID:17160901 PMID:17576681 PMID:17726231 PMID:18041031 PMID:18484666 PMID:18546366 PMID:19142971 PMID:20602485 PMID:21354044 PMID:21520333 PMID:21532985 PMID:22155606 PMID:22703879 PMID:22807134 PMID:22962301 PMID:23047742 PMID:23244495 PMID:23460398 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24728327 PMID:24789688 PMID:24932921 PMID:25074460 PMID:25325900 PMID:25403449 PMID:25541118 PMID:25741868 PMID:26000329 PMID:26056819 PMID:26155992 PMID:26467025 PMID:26489445 PMID:26510091 PMID:26740943 PMID:26840085 PMID:27069254 PMID:27322474 PMID:27716896 PMID:27793025 PMID:28166811 PMID:28492532 PMID:28873162 PMID:28976792 PMID:29290338 PMID:29415745 PMID:29483232 PMID:29673180 PMID:29872168 PMID:30190611 PMID:30287823 PMID:30308447 PMID:31159747 PMID:31422574 PMID:31595648 PMID:32107864 PMID:32566746 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20175
    disease of cellular proliferation 8003
      Neoplasms by Histologic Type 5243
        Nerve Tissue Neoplasms 848
          Nerve Sheath Neoplasms 73
            Neurothekeoma 0
            neurofibroma + 49
            neuroma + 50
            peripheral nerve sheath neoplasm + 50
Path 2
Term Annotations click to browse term
  disease 20175
    disease of cellular proliferation 8003
      cancer 5378
        organ system cancer 5217
          nervous system cancer 1215
            peripheral nervous system neoplasm 154
              Nerve Sheath Neoplasms 73
                Neurothekeoma 0
                neurofibroma + 49
                neuroma + 50
                peripheral nerve sheath neoplasm + 50
paths to the root