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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;   EFO:0002939;   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: MIM: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 ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr 4:12,166,275...12,827,175
Ensembl chr 4:12,167,550...12,827,037 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism
associated with Adenomatous Polyposis Coli;DNA:mutations: :		 CTD
RGD		 PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104 		JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 More... NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma OMIM
ClinVar		 PMID:251866 PMID:278235 PMID:2661312 PMID:8589730 PMID:8673090 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BRD2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029 		JBrowse link
G BRD3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 9:50,290,488...50,322,243
Ensembl chr 9:50,288,240...50,322,127 		JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608 		JBrowse link
G CCND1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005 		JBrowse link
G CCNE1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649 		JBrowse link
G CDK6 cyclin dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16314645 PMID:19270706 PMID:23138228 RGD:13702096 NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869 		JBrowse link
G CDK9 cyclin dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 9:55,615,271...55,619,493
Ensembl chr 9:55,615,827...55,620,236 		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 chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma OMIM
ClinVar		 PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:35,759,367...35,789,759
Ensembl chr  X:35,759,416...35,789,774 		JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma		 OMIM
ClinVar		 PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 More... NCBI chr11:64,035,667...64,094,402
Ensembl chr11:64,037,506...64,093,819 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195 		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 chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822 		JBrowse link
G FOXO3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		JBrowse link
G GPR161 G protein-coupled receptor 161 ISO ClinVar Annotator: match by term: Medulloblastoma OMIM
ClinVar		 PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 More... NCBI chr 7:30,364,999...30,411,038
Ensembl chr 7:30,366,068...30,407,268 		JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 9:46,156,909...46,162,849
Ensembl chr 9:46,159,136...46,162,004 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219 		JBrowse link
G IFNG interferon gamma ISO OMIM:155255 MouseDO NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IRS2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr22:58,197,016...58,229,026
Ensembl chr22:58,223,387...58,227,535 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252 		JBrowse link
G KDM4B lysine demethylase 4B ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain (human)		 CTD
RGD		 PMID:19270706 RGD:9587481 NCBI chr20:54,713,900...54,843,991
Ensembl chr20:54,634,121...54,820,816 		JBrowse link
G KDM4C lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain (human)		 CTD
RGD		 PMID:19270706 RGD:9587481 NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801 		JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:24,000,008...24,021,883
Ensembl chr10:24,002,183...24,021,753 		JBrowse link
G L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:68,538,014...68,655,173
Ensembl chr 1:68,540,051...68,654,414 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309 		JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:2,975,757...3,019,313
Ensembl chr15:3,006,409...3,013,381 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr17:11,720,857...11,724,308 JBrowse link
G NONO non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:55,618,032...55,632,237
Ensembl chr  X:55,618,095...55,631,388 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788 		JBrowse link
G OTX2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:32,435,169...32,445,093
Ensembl chr 8:32,435,863...32,445,446 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141 		JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:16301862 PMID:16419085 PMID:25741868 PMID:28492532 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31945512 NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		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 chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G S100A10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr17:60,984,138...60,994,915 JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 7:43,494,007...43,496,021 JBrowse link
G S100A6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 7:43,501,430...43,503,100
Ensembl chr 7:43,501,989...43,541,604 		JBrowse link
G SCG5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr30:2,261,144...2,315,315
Ensembl chr30:2,261,189...2,315,213 		JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:14,334,769...14,436,614
Ensembl chr  X:14,335,013...14,437,176 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354 		JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307 		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 chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO ClinVar Annotator: match by term: Medulloblastoma RGD
ClinVar		 PMID:19726788 PMID:22084163 PMID:22679179 PMID:25759020 RGD:150521622 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033 		JBrowse link
G SMYD4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:45,904,089...45,958,466
Ensembl chr 9:45,902,648...45,957,334 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G STRADA STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 9:11,684,905...11,712,515
Ensembl chr 9:11,684,663...11,712,432 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma ClinVar
OMIM		 PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More... NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO 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		 RGD
ClinVar		 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:8547823 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TSC2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960 		JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349 		JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr20:53,482,239...53,532,399
Ensembl chr20:53,482,498...53,531,296 		JBrowse link
G WRN WRN RecQ like helicase ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr16:33,164,662...33,304,466
Ensembl chr16:33,167,364...33,304,625 		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 chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
desmoplastic/nodular medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTR1A actin related protein 1A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:14,972,512...14,990,434
Ensembl chr28:14,972,515...14,990,434 		JBrowse link
G ARID2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr27:8,411,092...8,579,735
Ensembl chr27:8,412,377...8,579,882 		JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,152,762...15,189,043
Ensembl chr28:15,142,485...15,188,903 		JBrowse link
G AS3MT arsenite methyltransferase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,334,141...15,350,749 JBrowse link
G ATP5MK ATP synthase membrane subunit k ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,761,732...15,767,892
Ensembl chr 1:40,605,100...40,605,276 		JBrowse link
G BORCS7 BLOC-1 related complex subunit 7 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,314,219...15,324,522
Ensembl chr28:15,314,266...15,350,714 		JBrowse link
G C28H10orf95 chromosome 28 C10orf95 homolog ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:14,947,869...14,949,414
Ensembl chr28:14,948,373...14,949,032 		JBrowse link
G CALHM1 calcium homeostasis modulator 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,821,121...15,826,029
Ensembl chr28:15,814,429...15,825,924 		JBrowse link
G CALHM2 calcium homeostasis modulator family member 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,813,891...15,818,754
Ensembl chr28:15,814,429...15,825,924 		JBrowse link
G CALHM3 calcium homeostasis modulator 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,833,952...15,843,640
Ensembl chr28:15,833,838...15,839,995 		JBrowse link
G CFAP43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:16,443,417...16,555,027
Ensembl chr28:16,443,389...16,555,792 		JBrowse link
G CFAP58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:16,653,212...16,752,229
Ensembl chr28:16,653,208...16,751,838 		JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,366,035...15,515,261
Ensembl chr28:15,366,601...15,514,886 		JBrowse link
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056 		JBrowse link
G CTCF CCCTC-binding factor ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852 		JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:16,569,421...16,579,239
Ensembl chr28:16,569,066...16,619,880 		JBrowse link
G GSTO2 glutathione S-transferase omega 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:16,580,250...16,604,977
Ensembl chr28:16,586,777...16,604,976 		JBrowse link
G INA internexin neuronal intermediate filament protein alpha ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,670,919...15,685,080
Ensembl chr28:15,670,999...15,683,380 		JBrowse link
G ITPRIP inositol 1,4,5-trisphosphate receptor interacting protein ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:16,613,934...16,638,058 JBrowse link
G MFSD13A major facilitator superfamily domain containing 13A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:14,957,194...14,971,002
Ensembl chr28:14,964,992...14,972,051 		JBrowse link
G MIR1307 microRNA mir-1307 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,765,927...15,765,986
Ensembl chr28:15,765,918...15,765,997 		JBrowse link
G NEURL1 neuralized E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,856,494...15,935,897
Ensembl chr28:15,856,616...15,933,763 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235 		JBrowse link
G PCGF6 polycomb group ring finger 6 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,697,707...15,733,177
Ensembl chr28:15,605,040...15,733,097 		JBrowse link
G PDCD11 programmed cell death 11 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,767,936...15,812,285
Ensembl chr28:15,769,845...15,812,279 		JBrowse link
G SFR1 SWI5 dependent homologous recombination repair protein 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:16,436,261...16,440,219
Ensembl chr28:16,436,377...16,439,742 		JBrowse link
G SFXN2 sideroflexin 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,189,093...15,213,118
Ensembl chr28:15,154,951...15,212,337 		JBrowse link
G SH3PXD2A SH3 and PX domains 2A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,936,927...16,165,537
Ensembl chr28:15,943,097...16,117,710 		JBrowse link
G SLK STE20 like kinase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:16,286,827...16,347,766
Ensembl chr28:16,286,688...16,346,368 		JBrowse link
G SORCS3 sortilin related VPS10 domain containing receptor 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:16,909,908...17,491,097
Ensembl chr28:16,909,856...17,489,418 		JBrowse link
G STN1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:16,203,607...16,246,468
Ensembl chr28:16,204,073...16,246,058 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389 		JBrowse link
G TAF5 TATA-box binding protein associated factor 5 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,747,102...15,761,744
Ensembl chr28:15,747,120...15,760,901 		JBrowse link
G TRIM8 tripartite motif containing 8 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,124,310...15,138,660
Ensembl chr28:15,123,348...15,146,355 		JBrowse link
G WBP1L WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr28:15,218,883...15,285,211
Ensembl chr28:15,218,775...15,282,416 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15722
    disease of cellular proliferation 7512
      Neoplasms by Histologic Type 5208
        Glandular and Epithelial Neoplasms 3683
          astroblastoma 290
            Primitive Neuroectodermal Tumors 198
              medulloblastoma 110
                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 15722
    disease of anatomical entity 15368
      nervous system disease 13480
        central nervous system disease 12044
          brain disease 11319
            Brain Neoplasms 1358
              Supratentorial Neoplasms 485
                supratentorial cancer 485
                  cerebrum cancer 456
                    malignant astrocytoma 452
                      astroblastoma 290
                        Primitive Neuroectodermal Tumors 198
                          medulloblastoma 110
                            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