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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:peripheral nervous system neoplasm
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Accession:DOID:1192 term browser browse the term
Definition:A nervous system cancer that is located in the peripheral nervous system. (DO)
Synonyms:exact_synonym: Peripheral Nerve Neoplasms, Benign;   Peripheral Nerve Neoplasms, Malignant;   Peripheral Nerve Neoplastic Infiltration;   Peripheral Nerve Tumor;   Peripheral Nerve Tumors;   neoplasm of peripheral nerve;   peripheral nerve neoplasm;   peripheral nerve neoplasms;   peripheral nervous system benign neoplasms;   peripheral nervous system malignant neoplasms;   tumor of PNS;   tumour of cranial and spinal nerves
 primary_id: MESH:D010524
 xref: EFO:0002431;   NCI:C3321;   NCI:C4972
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
peripheral nervous system neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pten phosphatase and tensin homolog ISO associated with Neurofibromatosis 1;DNA:loss of heterozygosity:cds: (human) RGD PMID:19246520 RGD:12802354 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		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 4:117,783,105...117,787,993
Ensembl chr 4:117,783,359...117,786,960 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Cav1 caveolin 1, caveolae protein ISO RGD PMID:20881564 RGD:8661782 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		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 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Nf2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		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: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome		 CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583 		JBrowse link
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More... NCBI chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644 		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 (K)-specific demethylase 4B ISO DNA:amplification:cds (human) RGD PMID:21785329 RGD:9587769 NCBI chr17:56,632,975...56,710,774
Ensembl chr17:56,633,062...56,709,870 		JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar		 PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Eed embryonic ectoderm development ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240281 NCBI chr 7:89,603,862...89,630,184
Ensembl chr 7:89,603,862...89,630,191 		JBrowse link
G Foxr2 forkhead box R2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685747 NCBI chr  X:151,897,577...151,915,857
Ensembl chr  X:151,901,782...151,915,857 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression: : RGD PMID:9308731 RGD:2317564 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Met met proto-oncogene disease_progression ISO protein:increased expression:tumor (human) RGD PMID:9308731 RGD:2317564 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20176786 PMID:25240281 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Pten phosphatase and tensin homolog disease_progression IMP RGD PMID:22700876 RGD:12859040 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240281 PMID:25305755 NCBI chr11:79,883,932...79,924,949
Ensembl chr11:79,883,932...79,924,949 		JBrowse link
G Trp53 transformation related protein 53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20176786 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		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 chr11:79,980,205...80,026,623
Ensembl chr11:79,980,226...80,026,620 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO DNA,protein:deletion,decreased expression: : RGD PMID:10595918 RGD:1358481 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Eed embryonic ectoderm development ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 7:89,603,862...89,630,184
Ensembl chr 7:89,603,862...89,630,191 		JBrowse link
G Kdr kinase insert domain protein receptor ISO mRNA:decreased expression:brain: RGD PMID:17570036 RGD:8552334 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO DNA:missense mutation:cds,multiple (human) RGD PMID:24362817 RGD:151676717 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Nf2 neurofibromin 2 ISO DNA:loss of heterozygosity RGD PMID:7669741 RGD:150530508 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 severity ISO protein:increased expression:tumor (human) RGD PMID:22555941 RGD:6771228 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO mRNA,protein:increased expression:schwann cell RGD PMID:14963743 RGD:13208544 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Six1 sine oculis-related homeobox 1 ISO mRNA:increased expression:Schwann cell (human) RGD PMID:19901965 RGD:11561959 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		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:25631985 More... NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Snca synuclein, alpha ISO protein:increased expression:cytoplasm RGD PMID:11810180 RGD:6218996 NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:79,883,932...79,924,949
Ensembl chr11:79,883,932...79,924,949 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:25474318 NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		JBrowse link
neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Alk anaplastic lymphoma kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility		 CTD
ClinVar		 PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More... NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO mRNA, protein:increased expression:neuroblastoma (human) RGD PMID:18591367 RGD:2313903 NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism
DNA:mutations,loss of heterozygosity: :		 CTD
RGD		 PMID:23202128 PMID:23202128 RGD:13439724 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO CTD Direct Evidence: marker/mechanism
DNA:deletion,haploinsufficiency: :		 CTD
RGD		 PMID:23202128 PMID:23202128 RGD:13439724 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 PMID:26523776 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22588779 NCBI chr 2:172,198,116...172,212,825
Ensembl chr 2:172,198,110...172,212,455 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412175 PMID:23334666 NCBI chr 1:71,066,694...71,142,300
Ensembl chr 1:71,066,657...71,142,305 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		JBrowse link
G Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More... NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Cd44 CD44 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010 		JBrowse link
G Cd55 CD55 molecule, decay accelerating factor for complement ISO RGD PMID:10850450 RGD:2326181 NCBI chr 1:130,357,526...130,390,513
Ensembl chr 1:130,366,764...130,390,481 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15814359 PMID:24714808 RGD:10043806 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Chaf1a chromatin assembly factor 1, subunit A disease_progression ISO mRNA:increased expression: : RGD PMID:24335960 PMID:24335960 RGD:9587458, RGD:9587458 NCBI chr17:56,347,404...56,375,027
Ensembl chr17:56,347,439...56,379,289 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 4:152,423,103...152,474,651
Ensembl chr 4:152,423,108...152,474,651 		JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18577749 NCBI chr 2:160,788,898...160,951,006
Ensembl chr 2:160,788,898...160,950,995 		JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Dbh dopamine beta hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27366082 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More... NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More... NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537 		JBrowse link
G Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941191 NCBI chr10:45,453,911...45,588,441
Ensembl chr10:45,453,925...45,588,441 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 8:57,774,018...57,777,552
Ensembl chr 8:57,774,018...57,777,668 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16051641 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359 PMID:26121086 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Ifnb1 interferon beta 1, fibroblast ISO CTD Direct Evidence: therapeutic CTD PMID:16115947 NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO protein: decreased tyrosine phosphorylation: : Y1131 RGD PMID:17121898 RGD:7242922 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37246217 NCBI chr11:95,847,989...95,896,770
Ensembl chr11:95,847,989...95,896,766 		JBrowse link
G Il18 interleukin 18 susceptibility IMP RGD PMID:16428511 RGD:8655920 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Isl1 ISL1 transcription factor, LIM/homeodomain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 More... NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lin28b lin-28 homolog B ISO
IAGP		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:22941191 PMID:23042116 NCBI chr10:45,252,713...45,362,410
Ensembl chr10:45,252,716...45,362,491 		JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123 		JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897 		JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921 		JBrowse link
G Met met proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:16051641 PMID:26822237 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15492235 NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696 		JBrowse link
G Mtfp1 mitochondrial fission process 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:27765905 RGD:12880392 NCBI chr11:4,041,481...4,045,431
Ensembl chr11:4,041,480...4,045,445 		JBrowse link
G Myb myeloblastosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883 		JBrowse link
G Myc myelocytomatosis oncogene ISO ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 More... NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO RGD PMID:8047138 RGD:1600229 NCBI chr11:93,849,751...93,859,341
Ensembl chr11:93,847,805...93,859,347 		JBrowse link
G Nnat neuronatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17762496 NCBI chr 2:157,401,936...157,404,445
Ensembl chr 2:157,401,998...157,404,442 		JBrowse link
G Nodal nodal growth differentiation factor ISO mRNA:increased expression:neural tissue (human) RGD PMID:30985990 RGD:155226876 NCBI chr10:61,253,751...61,261,117
Ensembl chr10:61,253,751...61,261,117 		JBrowse link
G Nras neuroblastoma ras oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 severity ISO DNA:hypermethylation:promoter:CpG islands (human) RGD PMID:20018718 RGD:9590155 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		JBrowse link
G Nt5e 5' nucleotidase, ecto ISO CTD Direct Evidence: therapeutic CTD PMID:34773529 NCBI chr 9:88,209,662...88,254,142
Ensembl chr 9:88,209,250...88,254,145 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16989911 PMID:8433391 RGD:5684545 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:16051641 PMID:26822237 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784 		JBrowse link
G Pak4 p21 (RAC1) activated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29048629 NCBI chr 7:28,258,244...28,297,609
Ensembl chr 7:28,258,244...28,297,610 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO human tumor in mouse model RGD PMID:22174364 RGD:6767296 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:52,001,091...52,045,838
Ensembl chr  X:52,001,143...52,045,820 		JBrowse link
G Phox2b paired-like homeobox 2b exacerbates ISO ClinVar Annotator: match by term: Neuroblastoma
human cell line in a mouse model
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:25174395 PMID:30127528 PMID:26840262 RGD:151667442 NCBI chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pink1 PTEN induced putative kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:23334666 PMID:25741868 NCBI chr 4:138,040,718...138,053,631
Ensembl chr 4:138,040,720...138,053,618 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:15240516 RGD:11535044 NCBI chr  X:134,513,662...134,528,437
Ensembl chr  X:134,513,751...134,528,454 		JBrowse link
G Psmd14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr 2:61,542,038...61,630,720
Ensembl chr 2:61,542,038...61,630,720 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:11704759 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:189,460,417...189,608,892
Ensembl chr 1:189,460,465...189,608,892 		JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO RGD PMID:12222680 PMID:17325427 RGD:2291977, RGD:2291979 NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466 		JBrowse link
G Rassf5 Ras association (RalGDS/AF-6) domain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452173 NCBI chr 1:131,104,147...131,172,915
Ensembl chr 1:131,104,147...131,172,995 		JBrowse link
G Rbm15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 3:107,212,827...107,244,102
Ensembl chr 3:107,232,737...107,240,989 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Scnn1a sodium channel, nonvoltage-gated 1 alpha disease_progression ISO Low levels of methylation correlate with improved survival RGD PMID:21314941 RGD:5509791 NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:21979946 PMID:25741868 PMID:28492532 NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		JBrowse link
G Sema3b sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452250 NCBI chr 9:107,474,868...107,486,440
Ensembl chr 9:107,474,873...107,486,428 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Snrpe small nuclear ribonucleoprotein E severity ISO mRNA:decreased expression:neuroblastoma (human) RGD PMID:17075126 RGD:10755762 NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029 		JBrowse link
G Tbx2 T-box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr11:85,723,441...85,732,774
Ensembl chr11:85,723,377...85,732,774 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26523776 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfsf10 tumor necrosis factor (ligand) superfamily, member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 NCBI chr 3:27,371,226...27,393,814
Ensembl chr 3:27,371,177...27,396,576 		JBrowse link
G Trp53 transformation related protein 53 EXP
ISO		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Trp73 transformation related protein 73 no_association ISO RGD PMID:9288759 RGD:1599583 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
G Yap1 yes-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More... NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484 		JBrowse link
Neuroblastoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2b paired-like homeobox 2b susceptibility ISO ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 ClinVar
OMIM		 PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More... NCBI chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644 		JBrowse link
Neuroblastoma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk anaplastic lymphoma kinase susceptibility ISO ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 OMIM
ClinVar		 PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 More... NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622 		JBrowse link
G Clip4 CAP-GLY domain containing linker protein family, member 4 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr17:72,076,674...72,171,205
Ensembl chr17:72,075,468...72,171,268 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr17:72,050,919...72,059,904
Ensembl chr17:72,050,550...72,059,889 		JBrowse link
G Togaram2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr17:71,980,153...72,036,666
Ensembl chr17:71,980,256...72,036,664 		JBrowse link
G Wdr43 WD repeat domain 43 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr17:71,923,175...71,966,026
Ensembl chr17:71,922,890...71,966,026 		JBrowse link
neurofibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm6b KDM1 lysine (K)-specific demethylase 6B IEP mRNA, protein:increased expression:sciatic nerve (mouse) RGD PMID:23748155 RGD:9587842 NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA:increased expression:skin: RGD PMID:7692836 RGD:12910728 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibroma		 CTD
ClinVar		 PMID:8829638 PMID:9536098 PMID:9783703 PMID:10712197 PMID:12807981 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibroma ClinVar PMID:17052965 PMID:21548061 PMID:24033266 PMID:24451042 PMID:24803665 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:79,883,932...79,924,949
Ensembl chr11:79,883,932...79,924,949 		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 ISO ClinVar Annotator: match by term: Spinal neurofibroma ClinVar NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6		 CTD
ClinVar		 PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO ClinVar Annotator: match by term: Neurofibromatosis ClinVar PMID:17704776 PMID:24469042 PMID:25741868 PMID:28492532 NCBI chr 2:116,951,576...117,012,760
Ensembl chr 2:116,951,855...117,012,760 		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 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,405,943...77,411,454
Ensembl chr11:77,405,947...77,429,433 		JBrowse link
G Adap2 ArfGAP with dual PH domains 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:80,044,869...80,071,449
Ensembl chr11:80,044,931...80,069,784 		JBrowse link
G Ankrd13b ankyrin repeat domain 13b ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,361,311...77,380,868
Ensembl chr11:77,361,311...77,380,504 		JBrowse link
G Atad5 ATPase family, AAA domain containing 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:79,980,205...80,026,623
Ensembl chr11:79,980,226...80,026,620 		JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO protein:decreased expression:blood RGD PMID:22120694 RGD:6483542 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Blmh bleomycin hydrolase ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,836,482...76,878,215
Ensembl chr11:76,815,635...76,878,205 		JBrowse link
G Coro6 coronin 6 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,353,149...77,361,310
Ensembl chr11:77,353,237...77,361,310 		JBrowse link
G Cpd carboxypeptidase D ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,668,034...76,737,834
Ensembl chr11:76,669,250...76,737,844 		JBrowse link
G Crlf3 cytokine receptor-like factor 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:79,937,319...79,971,976
Ensembl chr11:79,937,319...79,971,817 		JBrowse link
G Cryba1 crystallin, beta A1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
G Efcab5 EF-hand calcium binding domain 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,980,236...77,106,926
Ensembl chr11:76,980,741...77,079,794 		JBrowse link
G Evi2a ecotropic viral integration site 2a ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr11:79,417,386...79,421,435
Ensembl chr11:79,417,386...79,421,435 		JBrowse link
G Evi2b ecotropic viral integration site 2b ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr11:79,404,211...79,414,588
Ensembl chr11:79,405,882...79,414,588 		JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:25741868 NCBI chr17:37,356,888...37,385,197
Ensembl chr17:37,356,858...37,385,959 		JBrowse link
G Git1 GIT ArfGAP 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,384,114...77,398,600
Ensembl chr11:77,384,388...77,398,612 		JBrowse link
G Gosr1 golgi SNAP receptor complex member 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,617,428...76,654,404
Ensembl chr11:76,617,428...76,654,405 		JBrowse link
G Nf1 neurofibromin 1 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease
ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease
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:1580933, RGD:151708706, RGD:1302540 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Nsrp1 nuclear speckle regulatory protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,935,118...76,969,263
Ensembl chr11:76,935,118...76,969,261 		JBrowse link
G Nufip2 nuclear FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,576,566...77,608,792
Ensembl chr11:77,576,981...77,632,747 		JBrowse link
G Omg oligodendrocyte myelin glycoprotein ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr11:79,391,808...79,394,908
Ensembl chr11:79,391,808...79,394,910 		JBrowse link
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583 		JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166 		JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 2:116,951,576...117,012,760
Ensembl chr 2:116,951,855...117,012,760 		JBrowse link
G Ssh2 slingshot protein phosphatase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,107,020...77,351,046
Ensembl chr11:77,107,113...77,351,046 		JBrowse link
G Taok1 TAO kinase 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,419,988...77,516,185
Ensembl chr11:77,419,988...77,498,641 		JBrowse link
G Tefm transcription elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:80,027,500...80,033,697
Ensembl chr11:80,027,504...80,033,001 		JBrowse link
G Tmigd1 transmembrane and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,781,946...76,807,413
Ensembl chr11:76,792,985...76,807,413 		JBrowse link
G Trp53i13 transformation related protein 53 inducible protein 13 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,398,925...77,404,214
Ensembl chr11:77,398,925...77,406,806 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		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 chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:22465605 PMID:28074573 PMID:28492532 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:116,951,576...117,012,760
Ensembl chr 2:116,951,855...117,012,760 		JBrowse link
neurofibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain protein receptor IMP RGD PMID:10554031 RGD:8552377 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Mxi1 MAX interactor 1, dimerization protein ISO ClinVar Annotator: match by term: Neurofibrosarcoma ClinVar
RGD		 PMID:10470286 PMID:10470286 RGD:1600205 NCBI chr19:53,298,509...53,361,724
Ensembl chr19:53,298,949...53,364,241 		JBrowse link
G Nras neuroblastoma ras oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:16239399 NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:peripheral nerve RGD PMID:10554031 RGD:8552377 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
olfactory neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1, alpha subunit severity ISO protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 aristaless-like homeobox 4 ISO ClinVar Annotator: match by term: Optic nerve glioma ClinVar PMID:25741868 NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 onset IMP associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Nf1 neurofibromin 1 susceptibility ISO associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma		 ClinVar
RGD		 PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 More... RGD:12789442 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		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 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		JBrowse link
G Nf1 neurofibromin 1 ISO associated with severe combined immunodeficiency, human cells in mouse model RGD PMID:17335073 RGD:126925763 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO CTD Direct Evidence: marker/mechanism
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 chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis
DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)
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 chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
schwannomatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Schwannomatosis 1 ClinVar PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 susceptibility ISO 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 chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
schwannomatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Schwannomatosis 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More... NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
spinal neurofibromatosis 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor protein complex AP-1, beta 1 subunit ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,897,320...4,992,731
Ensembl chr11:4,936,824...4,992,791 		JBrowse link
G Ascc2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,587,698...4,635,699
Ensembl chr11:4,587,747...4,635,699 		JBrowse link
G Cabp7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,686,892...4,697,179
Ensembl chr11:4,686,892...4,696,778 		JBrowse link
G Ccdc117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,478,887...5,492,217
Ensembl chr11:5,478,887...5,492,187 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Emid1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,056,265...5,102,322
Ensembl chr11:5,056,265...5,102,257 		JBrowse link
G Ewsr1 Ewing sarcoma breakpoint region 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266 		JBrowse link
G Gas2l1 growth arrest-specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,004,131...5,015,351
Ensembl chr11:5,004,132...5,015,327 		JBrowse link
G Gm30172 predicted gene, 30172 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,225,262...5,225,571 JBrowse link
G Hscb HscB iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr 5:110,976,945...110,987,647
Ensembl chr 5:110,976,936...110,987,643 		JBrowse link
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,141,551...5,212,220
Ensembl chr11:5,141,552...5,211,558 		JBrowse link
G Mtmr3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,430,867...4,544,863
Ensembl chr11:4,430,867...4,544,863 		JBrowse link
G Nefh neurofilament, heavy polypeptide ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		JBrowse link
G Nf2 neurofibromin 2 ISO
IAGP		 ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM:101000
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 More... RGD:151708708, RGD:151708704 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Nipsnap1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,823,951...4,844,201
Ensembl chr11:4,823,951...4,844,200 		JBrowse link
G Rasl10a RAS-like, family 10, member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,008,128...5,010,385
Ensembl chr11:5,008,128...5,010,385 		JBrowse link
G Rhbdd3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,048,282...5,056,100
Ensembl chr11:5,048,926...5,056,093 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Thoc5 THO complex 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,845,339...4,878,867
Ensembl chr11:4,845,320...4,878,867 		JBrowse link
G Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,651,968...4,654,344
Ensembl chr11:4,651,973...4,654,342 		JBrowse link
G Vegfa vascular endothelial growth factor A IMP
ISO		 RGD PMID:20406973 PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893 		JBrowse link
G Zmat5 zinc finger, matrin type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,654,671...4,687,669
Ensembl chr11:4,654,678...4,687,669 		JBrowse link
G Znrf3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,226,329...5,394,847
Ensembl chr11:5,226,324...5,394,847 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      nervous system disease 13531
        Nervous System Neoplasms 1622
          peripheral nervous system neoplasm 172
            Nerve Sheath Neoplasms + 85
            autonomic nervous system neoplasm + 94
            cranial nerve malignant neoplasm + 4
            nerve plexus neoplasm + 0
            nerve root neoplasm 0
            peripheral nerve sheath neoplasm + 63
            peripheral nervous system benign neoplasm + 0
Path 2
Term Annotations click to browse term
  disease 16109
    disease of cellular proliferation 7517
      cancer 5455
        organ system cancer 5219
          nervous system cancer 965
            peripheral nervous system neoplasm 172
              Nerve Sheath Neoplasms + 85
              autonomic nervous system neoplasm + 94
              cranial nerve malignant neoplasm + 4
              nerve plexus neoplasm + 0
              nerve root neoplasm 0
              peripheral nerve sheath neoplasm + 63
              peripheral nervous system benign neoplasm + 0
paths to the root