Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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

GViewer not supported for the selected species.

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 9:70,549,665...71,253,928
Ensembl chr 9:70,893,260...71,254,245 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr13:84,351,298...84,799,691 JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 7:42,098,057...42,104,910
Ensembl chr 7:42,100,996...42,102,060 		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 chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma ClinVar
OMIM		 PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 More... NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		JBrowse link
G BRD2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr17:39,113,519...39,126,267 JBrowse link
G BRD3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr12:4,075,123...4,112,727
Ensembl chr12:4,089,621...4,109,441 		JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr 6:13,836,332...13,883,459
Ensembl chr 6:13,836,324...13,873,877 		JBrowse link
G CCND1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357 		JBrowse link
G CCNE1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:24,879,923...24,888,985 JBrowse link
G CDK6 cyclin dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16314645 PMID:19270706 PMID:23138228 RGD:13702096 NCBI chr21:56,167,731...56,403,976
Ensembl chr21:56,170,450...56,393,808 		JBrowse link
G CDK9 cyclin dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr12:10,342,240...10,346,792
Ensembl chr12:10,342,801...10,346,502 		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 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		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 chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:38,513,251...38,539,982
Ensembl chr  Y:689,380...706,092 		JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr12:380,041...545,333
Ensembl chr12:379,943...497,033 		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 chr12:30,620,685...30,687,583
Ensembl chr12:30,620,278...30,687,405 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952 		JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084 		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 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:119,817,987...119,945,378
Ensembl chr 1:119,827,222...119,946,662 		JBrowse link
G FOXO3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725 		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 chr25:60,908,741...60,965,168
Ensembl chr25:60,940,047...60,959,181 		JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr16:1,687,560...1,697,888
Ensembl chr16:1,694,341...1,697,023 		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 chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975 		JBrowse link
G IFNG interferon gamma ISO OMIM:155255 MouseDO NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IRS2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 3:88,045,439...88,076,468 JBrowse link
G KAT6A lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:39,912,120...40,035,776
Ensembl chr 8:39,911,776...39,962,735 		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 chr 6:4,649,140...4,831,634
Ensembl chr 6:4,649,221...4,831,636 		JBrowse link
G KDM4C lysine demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19270706 RGD:9587481 NCBI chr12:72,346,194...72,763,040
Ensembl chr12:72,347,071...72,761,666 		JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr19:23,749,894...23,774,749
Ensembl chr19:23,750,212...23,776,947 		JBrowse link
G L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr13:43,428,693...43,554,996
Ensembl chr13:43,428,694...43,554,972 		JBrowse link
G LOC103219825 protein patched homolog 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:16301862 PMID:16419085 PMID:22952776 PMID:25741868 PMID:28492532 NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr20:23,854,969...23,861,634 JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384 		JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr20:92,998,668...93,005,283
Ensembl chr20:92,999,219...93,005,344 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr14:91,685,376...91,692,091 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:61,082,923...61,110,895 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 chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931 		JBrowse link
G OTX2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr24:33,975,043...33,984,816 JBrowse link
G PDGFRA platelet derived growth factor receptor alpha severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422 		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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496 		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 chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr20:87,953,877...87,975,087
Ensembl chr20:87,953,971...87,974,607 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr22:11,716,969...11,728,646
Ensembl chr22:11,716,918...11,725,027 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546 		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 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712 		JBrowse link
G S100A10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr20:11,690,580...11,701,561 JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr20:10,258,142...10,260,390
Ensembl chr20:10,258,070...10,260,871 		JBrowse link
G S100A6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr20:10,267,708...10,269,361
Ensembl chr20:10,267,556...10,269,405 		JBrowse link
G SCG5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr26:50,182,966...50,243,284
Ensembl chr26:50,189,473...50,243,282 		JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:16,680,560...16,803,443
Ensembl chr  X:16,680,567...16,782,447 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr 1:8,189,636...8,207,024
Ensembl chr 1:8,189,446...8,207,020 		JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632 		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 6:9,943,162...10,044,476 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 chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709 		JBrowse link
G SMYD4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:1,426,098...1,470,202
Ensembl chr16:1,426,599...1,470,276 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G STRADA STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr16:57,550,698...57,587,995
Ensembl chr16:57,550,703...57,588,084 		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 OMIM
ClinVar		 PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More... NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290 		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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TSC2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682 		JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr 6:6,104,265...6,111,966
Ensembl chr 6:6,094,130...6,111,762 		JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:6,337,255...6,415,851 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 chr 8:29,150,256...29,288,830
Ensembl chr 8:29,174,229...29,289,129 		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 chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		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 chr 9:95,507,685...95,531,015
Ensembl chr 9:95,506,675...95,530,984 		JBrowse link
G ARID2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr11:41,933,650...42,117,495
Ensembl chr11:42,028,083...42,118,892 		JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:95,703,648...95,737,785 JBrowse link
G AS3MT arsenite methyltransferase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:95,911,465...95,939,554
Ensembl chr 9:95,912,086...95,939,375 		JBrowse link
G ATP5MK ATP synthase membrane subunit k ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,432,664...96,442,110
Ensembl chr 9:96,432,668...96,442,067 		JBrowse link
G BORCS7 BLOC-1 related complex subunit 7 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:95,895,775...95,906,861
Ensembl chr 9:95,895,551...95,905,320 		JBrowse link
G CALHM1 calcium homeostasis modulator 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,500,716...96,507,439
Ensembl chr 9:96,502,577...96,506,072 		JBrowse link
G CALHM2 calcium homeostasis modulator family member 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,493,807...96,499,892
Ensembl chr 9:96,493,488...96,499,358 		JBrowse link
G CALHM3 calcium homeostasis modulator 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,520,508...96,543,924
Ensembl chr 9:96,520,912...96,527,841 		JBrowse link
G CFAP43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:97,179,767...97,283,267
Ensembl chr 9:97,179,647...97,283,225 		JBrowse link
G CFAP58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:97,400,284...97,510,489
Ensembl chr 9:97,409,380...97,510,661 		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 chr 9:95,956,224...96,130,714
Ensembl chr 9:95,955,654...96,122,976 		JBrowse link
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545 		JBrowse link
G CTCF CCCTC-binding factor ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr 5:59,806,753...59,889,534
Ensembl chr 5:59,806,551...59,880,049 		JBrowse link
G CUNH10orf95 chromosome unknown C10orf95 homolog ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:95,479,426...95,481,662 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 chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180 		JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:97,305,094...97,317,892 JBrowse link
G GSTO2 glutathione S-transferase omega 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:97,319,695...97,348,406
Ensembl chr 9:97,325,215...97,349,422 		JBrowse link
G INA internexin neuronal intermediate filament protein alpha ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,325,122...96,338,057
Ensembl chr 9:96,325,180...96,336,358 		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 chr 9:97,362,766...97,384,115 JBrowse link
G MFSD13A major facilitator superfamily domain containing 13A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:95,490,196...95,504,569
Ensembl chr 9:95,497,252...95,504,434 		JBrowse link
G NEURL1 neuralized E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,542,046...96,641,912
Ensembl chr 9:96,542,473...96,639,761 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,133,873...96,325,122
Ensembl chr 9:96,135,400...96,219,956 		JBrowse link
G PCGF6 polycomb group ring finger 6 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,349,418...96,396,083
Ensembl chr 9:96,349,423...96,395,650 		JBrowse link
G PDCD11 programmed cell death 11 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,442,214...96,493,320
Ensembl chr 9:96,442,237...96,493,318 		JBrowse link
G SFR1 SWI5 dependent homologous recombination repair protein 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:97,171,948...97,176,232
Ensembl chr 9:97,172,037...97,176,369 		JBrowse link
G SFXN2 sideroflexin 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:95,752,621...95,775,639
Ensembl chr 9:95,762,074...95,776,073 		JBrowse link
G SH3PXD2A SH3 and PX domains 2A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,645,955...96,898,749 JBrowse link
G SLK STE20 like kinase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:97,016,085...97,077,133
Ensembl chr 9:97,016,184...97,077,138 		JBrowse link
G SORCS3 sortilin related VPS10 domain containing receptor 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:97,688,826...98,299,715
Ensembl chr 9:97,883,836...98,299,712 		JBrowse link
G STN1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,919,584...96,967,941
Ensembl chr 9:96,915,951...96,967,394 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290 		JBrowse link
G TAF5 TATA-box binding protein associated factor 5 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:96,411,690...96,432,668 JBrowse link
G TRIM8 tripartite motif containing 8 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:95,671,622...95,686,701
Ensembl chr 9:95,672,648...95,689,247 		JBrowse link
G WBP1L WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 9:95,780,039...95,855,013
Ensembl chr 9:95,811,108...95,855,426 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    disease of cellular proliferation 7181
      Neoplasms by Histologic Type 5034
        Glandular and Epithelial Neoplasms 3564
          astroblastoma 284
            Primitive Neuroectodermal Tumors 193
              medulloblastoma 109
                adult medulloblastoma 0
                brain stem medulloblastoma 0
                cerebellar medulloblastoma + 1
                cerebellar vermis medulloblastoma 0
                childhood medulloblastoma 0
                desmoplastic/nodular medulloblastoma 35
                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 15274
    disease of anatomical entity 14909
      nervous system disease 13001
        central nervous system disease 11635
          brain disease 10924
            Brain Neoplasms 1342
              Supratentorial Neoplasms 475
                supratentorial cancer 475
                  cerebrum cancer 446
                    malignant astrocytoma 442
                      astroblastoma 284
                        Primitive Neuroectodermal Tumors 193
                          medulloblastoma 109
                            adult medulloblastoma 0
                            brain stem medulloblastoma 0
                            cerebellar medulloblastoma + 1
                            cerebellar vermis medulloblastoma 0
                            childhood medulloblastoma 0
                            desmoplastic/nodular medulloblastoma 35
                            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