Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:neurofibroma
go back to main search page
Accession:DOID:962 term browser browse the term
Definition:A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)
Synonyms:exact_synonym: Neurofibromas
 narrow_synonym: dermal neurofibroma
 primary_id: MESH:D009455;   RDO:0006211
 xref: EFO:0000397;   EFO:0000622;   GARD:7191;   NCI:C3272


show annotations for term's descendants           Sort by:
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 chr17:7,834,217...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 4:54,657,267...54,740,783 		JBrowse link
G NF1 neurofibromin 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibroma		 CTD
ClinVar		 PMID:9783703 PMID:10712197 PMID:12807981 PMID:16199547 PMID:16835897 More... 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: Neurofibroma ClinVar PMID:17052965 PMID:21548061 PMID:24033266 PMID:24451042 PMID:24803665 More... NCBI chr12:112,418,947...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...32,001,038
Ensembl chr17:31,937,007...32,001,038 		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: Macrocephaly, macrosomia, facial dysmorphism syndrome
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb		 CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911 		JBrowse link
neurofibroma of spinal cord term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Spinal neurofibroma ClinVar NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		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: Neurofibromatosis
ClinVar Annotator: match by term: Neurofibromatosis type 6		 CTD
ClinVar		 PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis ClinVar PMID:17704776 PMID:24469042 PMID:25741868 PMID:28492532 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
neurofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD15 abhydrolase domain containing 15 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:29,560,547...29,567,037
Ensembl chr17:29,560,547...29,567,037 		JBrowse link
G ADAP2 ArfGAP with dual PH domains 2 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,921,945...30,959,322
Ensembl chr17:30,906,344...30,959,322 		JBrowse link
G ANKRD13B ankyrin repeat domain 13B IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:29,593,132...29,614,761
Ensembl chr17:29,589,769...29,614,761 		JBrowse link
G ATAD5 ATPase family AAA domain containing 5 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,831,966...30,895,869
Ensembl chr17:30,831,966...30,895,869 		JBrowse link
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 BLMH bleomycin hydrolase IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,248,203...30,291,944
Ensembl chr17:30,248,203...30,292,056 		JBrowse link
G CORO6 coronin 6 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:29,614,762...29,622,912
Ensembl chr17:29,614,756...29,622,912 		JBrowse link
G CPD carboxypeptidase D IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,378,927...30,469,989
Ensembl chr17:30,378,927...30,469,989 		JBrowse link
G CRLF3 cytokine receptor like factor 3 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,782,684...30,824,692
Ensembl chr17:30,769,388...30,824,692 		JBrowse link
G CRYBA1 crystallin beta A1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:29,246,859...29,254,494
Ensembl chr17:29,246,859...29,254,494 		JBrowse link
G EFCAB5 EF-hand calcium binding domain 5 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:29,929,903...30,108,452
Ensembl chr17:29,929,200...30,108,452 		JBrowse link
G EVI2A ecotropic viral integration site 2A IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... 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:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr17:31,303,770...31,314,054
Ensembl chr17:31,303,770...31,314,105 		JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:25741868 NCBI chr 6:29,602,238...29,633,183
Ensembl chr 6:29,555,629...29,633,976 		JBrowse link
G GIT1 GIT ArfGAP 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:29,573,475...29,589,648
Ensembl chr17:29,573,475...29,594,054 		JBrowse link
G GOSR1 golgi SNAP receptor complex member 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,477,408...30,527,592
Ensembl chr17:30,477,362...30,527,592 		JBrowse link
G LOC106113036 NF1-REPa PRS1 recombination region IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:30,646,572...30,651,773 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 More... 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 More... 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 More... 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:10712197 PMID:15257518 More... 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:10712197 More... 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:9536098 PMID:9643287 PMID:10712197 More... NCBI chr17:31,093,605...31,095,381 JBrowse link
G LOC125177454 Sharpr-MPRA regulatory region 6872 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10607834 PMID:10980545 More... NCBI chr17:31,371,711...31,372,005 JBrowse link
G LOC130060654 ATAC-STARR-seq lymphoblastoid active region 12008 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10712197 PMID:15257518 More... NCBI chr17:31,311,202...31,311,281 JBrowse link
G LOC130060655 ATAC-STARR-seq lymphoblastoid active region 12009 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10712197 PMID:15257518 More... NCBI chr17:31,318,451...31,318,500 JBrowse link
G LOC130060656 ATAC-STARR-seq lymphoblastoid active region 12010 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10712197 PMID:15257518 More... NCBI chr17:31,318,711...31,318,770 JBrowse link
G MIR4733HG MIR4733 host gene IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9536098 PMID:9643287 PMID:10712197 More... NCBI chr17:31,090,742...31,095,490 JBrowse link
G NF1 neurofibromin 1 ISO
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease
ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis
OMIM:162200
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:190611 PMID:1071297 PMID:1302608 PMID:1370276 PMID:1483690 More... RGD:1302540, RGD:151708706, RGD:1580933 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor 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 NSRP1 nuclear speckle splicing regulatory protein 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475 		JBrowse link
G NUFIP2 nuclear FMR1 interacting protein 2 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:29,255,839...29,294,148
Ensembl chr17:29,255,839...29,294,148 		JBrowse link
G OMG oligodendrocyte myelin glycoprotein IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr17:31,294,647...31,297,239
Ensembl chr17:31,272,013...31,297,539 		JBrowse link
G RNF135 ring finger protein 135 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G SSH2 slingshot protein phosphatase 2 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:29,625,938...29,930,228
Ensembl chr17:29,625,938...29,930,276 		JBrowse link
G TAOK1 TAO kinase 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903 		JBrowse link
G TBC1D29P TBC1 domain family member 29, pseudogene IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,559,566...30,563,493
Ensembl chr17:30,553,502...30,562,917 		JBrowse link
G TEFM transcription elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,898,986...30,906,238
Ensembl chr17:30,897,336...30,906,238 		JBrowse link
G TMIGD1 transmembrane and immunoglobulin domain containing 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:30,316,333...30,334,057
Ensembl chr17:30,316,333...30,334,059 		JBrowse link
G TP53I13 tumor protein p53 inducible protein 13 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr17:29,566,300...29,582,340
Ensembl chr17:29,566,052...29,573,157 		JBrowse link
G VEGFA vascular endothelial growth factor A IEP mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		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...31,095,381 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...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MIR4733HG MIR4733 host gene IAGP ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 NCBI chr17:31,090,742...31,095,490 JBrowse link
G NF1 neurofibromin 1 IAGP
EXP		 ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype
ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... 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:22465605 PMID:28074573 PMID:28492532 NCBI chr12:112,418,947...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:25741868 PMID:28492532 NCBI chr15:38,252,836...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
RGD		 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 6:43,770,211...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
schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis
DNA, protein:multiple, multiple:multiple, blood (human)
DNA:multiple:multiple (human)		 CTD
ClinVar
RGD		 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... RGD:151708709, RGD:151708708, RGD:151708704 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis
DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)
ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
DNA:multiple:multiple (human)		 CTD
ClinVar
RGD		 PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:24362817 More... RGD:155804288, RGD:151708708, RGD:151708704 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
schwannomatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Schwannomatosis 1 ClinVar 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 ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by term: Schwannomatosis 1, somatic		 ClinVar
OMIM		 PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More... NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
schwannomatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130067016 ATAC-STARR-seq lymphoblastoid silent region 13504 IAGP ClinVar Annotator: match by term: Schwannomatosis 2 ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chr22:20,982,365...20,982,494 JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 susceptibility IAGP ClinVar Annotator: match by term: Schwannomatosis 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More... NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
spinal neurofibromatosis 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:10712197 PMID:23913538 PMID:25741868 PMID:28492532 NCBI chr17:31,093,605...31,095,381 JBrowse link
G MIR4733HG MIR4733 host gene IAGP ClinVar Annotator: match by term: Neurofibromatosis, familial spinal ClinVar PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532 NCBI chr17:31,090,742...31,095,490 JBrowse link
G NF1 neurofibromin 1 IAGP
EXP		 ClinVar Annotator: match by term: Neurofibromatosis, familial spinal
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
vestibular schwannomatosis 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 More... 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 More... NCBI chr22:29,788,611...29,838,274
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 More... 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 More... 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 More... 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 More... NCBI chr22:28,687,743...28,741,834
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 More... 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 More... NCBI chr22:29,268,268...29,300,521
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 More... NCBI chr22:29,306,650...29,312,787
Ensembl chr22:29,306,618...29,312,787 		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 More... NCBI chr22:28,742,032...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 More... NCBI chr22:29,073,035...29,168,333
Ensembl chr22:29,073,035...29,168,333 		JBrowse link
G LOC130067183 ATAC-STARR-seq lymphoblastoid active region 18817 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:28492532 NCBI chr22:29,603,019...29,603,148 JBrowse link
G LOC130067184 ATAC-STARR-seq lymphoblastoid silent region 13595 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:28492532 NCBI chr22:29,603,399...29,603,978 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 More... 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 More... NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP
ISS
EXP		 ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM:101000
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 More... RGD:151708708, RGD:151708704 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 More... 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 More... NCBI chr22:29,312,933...29,319,859
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 More... 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 More... 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 More... NCBI chr22:29,259,852...29,268,163
Ensembl chr22:29,259,872...29,268,209 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G THOC5 THO complex subunit 5 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,505,879...29,553,757
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 More... 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 6:43,770,211...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 More... 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 More... 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 More... NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9736
      Neoplasms by Histologic Type 6406
        Nerve Tissue Neoplasms 993
          Nerve Sheath Neoplasms 103
            neurofibroma 80
              Pacinian tumor 0
              atypical neurofibroma 0
              cellular neurofibroma 0
              epithelioid neurofibroma 0
              mediastinum neurofibroma 0
              neurofibroma of gallbladder 0
              neurofibroma of spinal cord 1
              neurofibroma of the esophagus 0
              neurofibroma of the heart 0
              neurofibromatosis + 73
              neurofibrosarcoma 4
              plexiform neurofibroma 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9736
      cancer 6692
        organ system cancer 6443
          nervous system cancer 1457
            peripheral nervous system neoplasm 203
              Nerve Sheath Neoplasms 103
                peripheral nerve sheath neoplasm 81
                  neurofibroma 80
                    Pacinian tumor 0
                    atypical neurofibroma 0
                    cellular neurofibroma 0
                    epithelioid neurofibroma 0
                    mediastinum neurofibroma 0
                    neurofibroma of gallbladder 0
                    neurofibroma of spinal cord 1
                    neurofibroma of the esophagus 0
                    neurofibroma of the heart 0
                    neurofibromatosis + 73
                    neurofibrosarcoma 4
                    plexiform neurofibroma 2
paths to the root