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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 Neuroectodermal Tumors
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Accession:DOID:9002904 term browser browse the term
Definition:A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059)
Synonyms:exact_synonym: Medulloepithelioma;   PNET;   PNETs;   Primitive Neuroectodermal Tumor;   Primitive Neuroepithelial Neoplasm;   Primitive Neuroepithelial Neoplasms;   Primitive Neuroepithelial Tumor;   medulloepitheliomas;   primitive neuroepithelial tumors;   spongioblastoma;   spongioblastomas
 primary_id: MESH:D018242


show annotations for term's descendants           Sort by:
Primitive Neuroectodermal Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ewsr1 Ewing sarcoma breakpoint region 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12162413 NCBI chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614 		JBrowse link
G Hey1 hairy/enhancer-of-split related with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316 		JBrowse link
G Notch2 notch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677 		JBrowse link
G Pms2 PMS1 homolog2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002382 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Primitive neuroectodermal tumor ClinVar PMID:16554133 PMID:21309039 PMID:22703879 PMID:23514105 PMID:25077650 More... NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
desmoplastic/nodular medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310034G01Rik RIKEN cDNA 2310034G01 gene ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,336,640...46,337,427
Ensembl chr19:46,336,640...46,338,741 		JBrowse link
G Actr1a ARP1 actin-related protein 1A, centractin alpha ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,365,252...46,384,180
Ensembl chr19:46,365,250...46,384,187 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873 		JBrowse link
G Arl3 ADP-ribosylation factor-like 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,519,548...46,561,621
Ensembl chr19:46,519,535...46,561,637 		JBrowse link
G As3mt arsenite methyltransferase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,695,124...46,729,538
Ensembl chr19:46,695,897...46,729,538 		JBrowse link
G Atp5mk ATP synthase membrane subunit k ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,071,910...47,079,086
Ensembl chr19:47,071,903...47,079,086 		JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,678,345...46,691,821
Ensembl chr19:46,678,345...46,691,821 		JBrowse link
G Calhm1 calcium homeostasis modulator 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,129,474...47,132,613
Ensembl chr19:47,129,348...47,132,693 		JBrowse link
G Calhm2 calcium homeostasis modulator family member 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,120,671...47,126,733
Ensembl chr19:47,093,792...47,126,733 		JBrowse link
G Calhm3 calcium homeostasis modulator 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,140,138...47,146,203
Ensembl chr19:47,140,048...47,146,203 		JBrowse link
G Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,723,706...47,825,893
Ensembl chr19:47,725,296...47,907,726 		JBrowse link
G Cfap58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,926,151...48,023,818
Ensembl chr19:47,926,114...48,023,826 		JBrowse link
G Cnnm2 cyclin M2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631 		JBrowse link
G Col17a1 collagen, type XVII, alpha 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533 		JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611 		JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,843,412...47,853,229
Ensembl chr19:47,843,409...47,853,229 		JBrowse link
G Gsto2 glutathione S-transferase omega 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,853,879...47,874,747
Ensembl chr19:47,853,973...47,874,763 		JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,003,120...47,013,766
Ensembl chr19:47,003,137...47,013,766 		JBrowse link
G Itprip inositol 1,4,5-triphosphate receptor interacting protein ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,883,029...47,907,738
Ensembl chr19:47,883,041...47,907,738 		JBrowse link
G LOC110408763 Cyp17a1 promoter ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,661,307...46,662,356 JBrowse link
G Mfsd13a major facilitator superfamily domain containing 13a ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,345,315...46,363,693
Ensembl chr19:46,329,560...46,363,691 		JBrowse link
G Neurl1a neuralized E3 ubiquitin protein ligase 1A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,167,259...47,247,880
Ensembl chr19:47,167,259...47,247,880 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,873,829...47,003,613
Ensembl chr19:46,871,756...47,003,592 		JBrowse link
G Pcgf6 polycomb group ring finger 6 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,022,056...47,039,379
Ensembl chr19:47,022,056...47,039,345 		JBrowse link
G Pdcd11 programmed cell death 11 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,079,183...47,119,585
Ensembl chr19:47,079,207...47,120,304 		JBrowse link
G Sfr1 SWI5 dependent recombination repair 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,720,159...47,724,027
Ensembl chr19:47,720,121...47,724,027 		JBrowse link
G Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,561,798...46,585,340
Ensembl chr19:46,561,804...46,586,505 		JBrowse link
G Sh3pxd2a SH3 and PX domains 2A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,248,613...47,453,053
Ensembl chr19:47,248,613...47,452,840 		JBrowse link
G Slk STE20-like kinase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,568,458...47,633,685
Ensembl chr19:47,568,117...47,633,685 		JBrowse link
G Sorcs3 sortilin-related VPS10 domain containing receptor 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:48,194,464...48,793,944
Ensembl chr19:48,194,464...48,793,944 		JBrowse link
G Stn1 STN1, CST complex subunit ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
G Taf5 TATA-box binding protein associated factor 5 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,056,187...47,071,918
Ensembl chr19:47,056,185...47,071,918 		JBrowse link
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,490,087...46,504,894
Ensembl chr19:46,490,141...46,505,287 		JBrowse link
G Wbp1l WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,587,545...46,645,828
Ensembl chr19:46,587,523...46,645,828 		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
medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3, epithelial ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr10:69,234,608...69,863,266
Ensembl chr10:69,234,603...69,863,268 		JBrowse link
G Apc APC, WNT signaling pathway regulator ISO associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 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 ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 More... NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Brca2 breast cancer 2, early onset IMP
ISO		 ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 More... RGD:11038793 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608 		JBrowse link
G Brd3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 2:27,335,588...27,397,669
Ensembl chr 2:27,335,591...27,397,674 		JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr17:32,415,246...32,503,717
Ensembl chr17:32,415,248...32,503,696 		JBrowse link
G Ccnd1 cyclin D1 IMP RGD PMID:16943274 RGD:13681932 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959 		JBrowse link
G Cdk6 cyclin dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19270706 PMID:23138228 PMID:16314645 RGD:13702096 NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008 		JBrowse link
G Cdk9 cyclin dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 2:32,595,794...32,608,098
Ensembl chr 2:32,595,796...32,603,088 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Ddx3x DEAD box helicase 3, X-linked ISO ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:26822237 PMID:27058758 NCBI chr  X:13,147,261...13,160,222
Ensembl chr  X:13,147,209...13,160,291 		JBrowse link
G Dicer1 dicer 1, ribonuclease type III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Ehmt1 euchromatic histone methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626 		JBrowse link
G Elp1 elongator complex protein 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 More... NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033 		JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fli1 Friend leukemia integration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157 		JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751 		JBrowse link
G Gpr161 G protein-coupled receptor 161 ISO ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 More... NCBI chr 1:165,108,760...165,154,314
Ensembl chr 1:165,123,358...165,154,314 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hic1 hypermethylated in cancer 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr11:75,052,203...75,059,970
Ensembl chr11:75,055,391...75,060,345 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Ifng interferon gamma IAGP OMIM:155255 MouseDO NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458 		JBrowse link
G Kat6a K(lysine) acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275 		JBrowse link
G Kdm4b lysine (K)-specific demethylase 4B ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr17:56,632,975...56,710,774
Ensembl chr17:56,633,062...56,709,870 		JBrowse link
G Kdm4c lysine (K)-specific demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 4:74,160,734...74,324,101
Ensembl chr 4:74,160,734...74,324,097 		JBrowse link
G L3mbtl2 L3MBTL2 polycomb repressive complex 1 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:81,548,090...81,572,516
Ensembl chr15:81,548,090...81,572,516 		JBrowse link
G L3mbtl3 L3MBTL3 histone methyl-lysine binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:26,150,361...26,252,426
Ensembl chr10:26,150,366...26,251,967 		JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Mycl v-myc avian myelocytomatosis viral oncogene lung carcinoma derived ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 4:122,889,414...122,896,278
Ensembl chr 4:122,889,445...122,896,278 		JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma		 CTD
ClinVar		 PMID:19270706 PMID:26619011 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G Nono non-POU-domain-containing, octamer binding protein ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:100,473,295...100,492,193
Ensembl chr  X:100,472,924...100,492,197 		JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma		 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:134,513,662...134,528,437
Ensembl chr  X:134,513,751...134,528,454 		JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		JBrowse link
G Prmt5 protein arginine N-methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982 		JBrowse link
G Ptch1 patched 1 ISO
IMP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255		 CTD
ClinVar
MouseDO
RGD		 PMID:16301862 PMID:16419085 PMID:18347096 PMID:19155313 PMID:19213072 More... RGD:150523834 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Ptch2 patched 2 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298 		JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466 		JBrowse link
G Rb1 RB transcriptional corepressor 1 IGI
ISO		 ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:10783170 RGD:1302544 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
G S100a10 S100 calcium binding protein A10 (calpactin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:93,462,424...93,471,952
Ensembl chr 3:93,462,387...93,471,950 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:90,511,077...90,513,349
Ensembl chr 3:90,511,078...90,513,352 		JBrowse link
G S100a6 S100 calcium binding protein A6 (calcyclin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:90,520,491...90,531,797
Ensembl chr 3:90,520,189...90,531,488 		JBrowse link
G Scg5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 2:113,606,708...113,659,423
Ensembl chr 2:113,606,707...113,659,466 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:159,865,521...160,041,214
Ensembl chr  X:159,865,521...160,041,209 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483 		JBrowse link
G Skp2 S-phase kinase-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:23698369 PMID:26822237 PMID:26842758 PMID:28492532 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO
IAGP
IMP		 ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255		 ClinVar
MouseDO
RGD		 PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163 RGD:150521622 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Smyd4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr11:75,239,259...75,296,533
Ensembl chr11:75,239,259...75,296,531 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Strada STE20-related kinase adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr11:106,053,739...106,084,460
Ensembl chr11:106,054,156...106,092,994 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO protein:increased expression:brain (rat)
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More... RGD:150573693 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO
IGI		 protein:increased expression:nucleus:
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic		 ClinVar
RGD		 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:8547823, RGD:1302544 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
G Tubb4a tubulin, beta 4A class IVA ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr17:57,387,061...57,394,600
Ensembl chr17:57,387,066...57,394,782 		JBrowse link
G Vav1 vav 1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr17:57,586,080...57,636,236
Ensembl chr17:57,586,100...57,635,031 		JBrowse link
G Wrn Werner syndrome RecQ like helicase ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr 8:33,724,400...33,875,591
Ensembl chr 8:33,724,412...33,875,555 		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
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 susceptibility 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
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
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 chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      Neoplasms by Histologic Type 5320
        Glandular and Epithelial Neoplasms 3819
          astroblastoma 294
            Primitive Neuroectodermal Tumors 199
              Primitive Peripheral Neuroectodermal Tumors + 95
              central nervous system embryonal tumor + 0
              medulloblastoma + 112
Path 2
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      cancer 5523
        organ system cancer 5290
          nervous system cancer 965
            central nervous system cancer 781
              brain cancer 765
                supratentorial cancer 492
                  cerebrum cancer 461
                    malignant astrocytoma 457
                      astroblastoma 294
                        Primitive Neuroectodermal Tumors 199
                          Primitive Peripheral Neuroectodermal Tumors + 95
                          central nervous system embryonal tumor + 0
                          medulloblastoma + 112
paths to the root