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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:Primitive Peripheral Neuroectodermal Tumors
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Accession:DOID:9007058 term browser browse the term
Definition:A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with EWING SARCOMA.
Synonyms:exact_synonym: (pPNET) peripheral primitive neuroectodermal tumors;   Extracranial Primitive Neuroectodermal Tumor;   Peripheral Neuroectodermal Tumor;   Peripheral Neuroepithelioma;   Peripheral Neuroepitheliomas;   peripheral neuroectodermal tumors;   peripheral primitive neuroectodermal neoplasm;   primitive peripheral neuroectodermal tumor
 primary_id: MESH:D018241
 xref: MONDO:0018271


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Primitive Peripheral Neuroectodermal Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15618851 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		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 chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar		 PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Alk ALK receptor tyrosine 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 chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO mRNA, protein:increased expression:neuroblastoma (human) RGD PMID:18591367 RGD:2313903 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986 		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 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		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 chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 PMID:26523776 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22588779 NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412175 PMID:23334666 NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Cd55 CD55 molecule (Cromer blood group) IMP RGD PMID:10850450 RGD:2326181 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831 		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 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		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 chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291 		JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18577749 NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755 		JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27366082 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More... NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		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 chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		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 chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16051641 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359 PMID:26121086 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16115947 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein: decreased tyrosine phosphorylation: : Y1131 RGD PMID:17121898 RGD:7242922 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37246217 NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129 		JBrowse link
G Il18 interleukin 18 susceptibility ISO RGD PMID:16428511 RGD:8655920 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Isl1 ISL LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584 		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 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lin28b lin-28 homolog B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941191 PMID:23042116 NCBI chr20:48,865,329...48,964,769
Ensembl chr20:48,869,485...48,955,077 		JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993 		JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:16051641 PMID:26822237 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD PMID:15492235 NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mtfp1 mitochondrial fission process 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:27765905 RGD:12880392 NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor 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 chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO RGD PMID:8047138 RGD:1600229 NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408 		JBrowse link
G Nnat neuronatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17762496 NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834 		JBrowse link
G Nodal nodal growth differentiation factor ISO mRNA:increased expression:neural tissue (human) RGD PMID:30985990 RGD:155226876 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837 		JBrowse link
G Nras NRAS proto-oncogene, GTPase 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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		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 chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Nt5e 5' nucleotidase, ecto ISO CTD Direct Evidence: therapeutic CTD PMID:34773529 NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16989911 PMID:8433391 RGD:5684545 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:16051641 PMID:26822237 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pak4 p21 (RAC1) activated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29048629 NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO human tumor in mouse model RGD PMID:22174364 RGD:6767296 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		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 chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:23334666 PMID:25741868 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		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:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Psmd14 proteasome 26S subunit, non-ATPase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr 3:46,254,338...46,347,076
Ensembl chr 3:46,254,330...46,347,076 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088 		JBrowse link
G Rassf1 Ras association domain family member 1 ISO RGD PMID:17325427 PMID:12222680 RGD:2291979, RGD:2291977 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164 		JBrowse link
G Rassf5 Ras association domain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452173 NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024 		JBrowse link
G Rbm15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 2:194,945,974...194,954,498
Ensembl chr 2:194,945,974...194,954,703 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha disease_progression ISO Low levels of methylation correlate with improved survival RGD PMID:21314941 RGD:5509791 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:21979946 PMID:25741868 PMID:28492532 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sema3b semaphorin 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452250 NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919 		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 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:neuroblastoma (human) RGD PMID:17075126 RGD:10755762 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26523776 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135 		JBrowse link
G Tp53 tumor protein p53 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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp73 tumor protein p73 no_association ISO RGD PMID:9288759 RGD:1599583 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		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 chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049 		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 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 chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
Neuroblastoma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine 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 chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034 		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 chr 6:23,616,280...23,697,625
NCBI chr 6:23,718,580...23,729,231
NCBI chr 6:23,597,729...23,601,000
Ensembl chr 6:23,616,281...23,677,874 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169 		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 chr 6:23,770,979...23,828,884
Ensembl chr 6:23,771,052...23,828,499 		JBrowse link
G Wdr43 WD repeat domain 43 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 6:23,845,499...23,884,846
Ensembl chr 6:23,845,499...23,884,846 		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 subunit alpha severity ISO protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      Neoplasms by Histologic Type 5258
        Glandular and Epithelial Neoplasms 3713
          astroblastoma 256
            Primitive Neuroectodermal Tumors 165
              Primitive Peripheral Neuroectodermal Tumors 95
                Neuroblastic Tumor + 94
                neuroblastoma + 94
Path 2
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      cancer 5483
        organ system cancer 5237
          nervous system cancer 959
            central nervous system cancer 766
              brain cancer 750
                supratentorial cancer 475
                  cerebrum cancer 422
                    malignant astrocytoma 418
                      astroblastoma 256
                        Primitive Neuroectodermal Tumors 165
                          Primitive Peripheral Neuroectodermal Tumors 95
                            Neuroblastic Tumor + 94
                            neuroblastoma + 94
paths to the root