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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:medulloblastoma
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Accession:DOID:0050902 term browser browse the term
Definition:An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. (DO)
Synonyms:exact_synonym: CNS PNET;   CPNET;   MDB;   Medulloblastoma, histologically defined;   brain medulloblastoma;   circumscribed arachnoidal cerebellar sarcoma;   desmoplastic medulloblastoma;   desmoplastic medulloblastomas;   infratentorial primitive neuroectodermal tumor;   localized primitive neuroectodermal tumor;   medulloblastoma predisposition syndrome;   medulloblastomas;   melanocytic medulloblastoma;   melanocytic medulloblastomas
 narrow_synonym: CLASSIC MEDULLOBLASTOMA;   MBEN;   medulloblastoma with extensive nodularity;   medulloblastoma, somatic
 broad_synonym: PTCH2-RELATED CONDITION
 primary_id: MESH:D008527
 alt_id: OMIM:155255
 xref: EFO:0002939;   GARD:7005;   ICDO:9470/3;   NCI:C27294;   NCI:C3222;   NCI:C3716;   ORDO:616


show annotations for term's descendants           Sort by:
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		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma		 CTD
ClinVar
OMIM
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
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
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
              medulloblastoma 112
                adult medulloblastoma 0
                brain stem medulloblastoma 0
                cerebellar medulloblastoma + 1
                cerebellar vermis medulloblastoma 0
                childhood medulloblastoma 0
                desmoplastic/nodular medulloblastoma 36
                large cell medulloblastoma 0
                medulloblastoma SHH activated + 0
                medulloblastoma WNT activated 0
                medulloblastoma non-WNT/non-SHH + 0
                medullomyoblastoma 0
                melanotic medulloblastoma 0
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        central nervous system disease 12117
          brain disease 11377
            Brain Neoplasms 1382
              Supratentorial Neoplasms 492
                supratentorial cancer 492
                  cerebrum cancer 461
                    malignant astrocytoma 457
                      astroblastoma 294
                        Primitive Neuroectodermal Tumors 199
                          medulloblastoma 112
                            adult medulloblastoma 0
                            brain stem medulloblastoma 0
                            cerebellar medulloblastoma + 1
                            cerebellar vermis medulloblastoma 0
                            childhood medulloblastoma 0
                            desmoplastic/nodular medulloblastoma 36
                            large cell medulloblastoma 0
                            medulloblastoma SHH activated + 0
                            medulloblastoma WNT activated 0
                            medulloblastoma non-WNT/non-SHH + 0
                            medullomyoblastoma 0
                            melanotic medulloblastoma 0
paths to the root