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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;   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 IAGP ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr10:60,026,298...60,733,528
Ensembl chr10:60,026,298...60,733,490
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP
EXP
associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ATOH1 atonal bHLH transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964
JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 More... NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO
IAGP
EXP
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 chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRD2 bromodomain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
JBrowse link
G BRD3 bromodomain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 9:134,030,305...134,068,548
Ensembl chr 9:134,030,305...134,068,535
JBrowse link
G BRD4 bromodomain containing 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
JBrowse link
G CCND1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCNE1 cyclin E1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
JBrowse link
G CDK6 cyclin dependent kinase 6 disease_progression EXP
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:23138228 PMID:16314645 RGD:13702096 NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
JBrowse link
G CDK9 cyclin dependent kinase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792
JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTNNB1 catenin beta 1 IAGP
EXP
ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar
CTD
OMIM
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP
EXP
ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:26822237 PMID:27058758 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472
JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010
JBrowse link
G DNMT1 DNA methyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP
EXP
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 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ESR2 estrogen receptor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:26619011 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
JBrowse link
G FOXO3 forkhead box O3 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
JBrowse link
G GPR161 G protein-coupled receptor 161 IAGP
EXP
ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:31609649 NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP DNA:deletion: : RGD PMID:18952980 RGD:5490237
G HIC1 HIC ZBTB transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr17:2,055,103...2,063,241
Ensembl chr17:2,054,154...2,063,241
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IRS2 insulin receptor substrate 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
JBrowse link
G KAT6A lysine acetyltransferase 6A EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KDM4B lysine demethylase 4B IEP
EXP
mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,598
JBrowse link
G KDM4C lysine demethylase 4C IEP
EXP
mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 9:6,720,863...7,175,648
Ensembl chr 9:6,757,641...7,175,648
JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr22:41,205,312...41,231,271
Ensembl chr22:41,205,282...41,231,271
JBrowse link
G L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:130,018,581...130,141,438
Ensembl chr 6:130,013,699...130,141,449
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:16301862 PMID:16419085 PMID:25741868 PMID:28492532 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: Medulloblastoma
ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LOC126806659 BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 IAGP ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 3:41,233,427...41,234,626 JBrowse link
G LOC130004614 ATAC-STARR-seq lymphoblastoid silent region 2764 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:12068298 PMID:19833601 PMID:22508808 PMID:24651015 PMID:25403219 More... NCBI chr10:102,503,788...102,504,257 JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:39,895,428...39,901,917
Ensembl chr 1:39,895,428...39,902,256
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP
EXP
ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19270706 PMID:26619011 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
JBrowse link
G NONO non-POU domain containing octamer binding IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G OTX2 orthodenticle homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha severity EXP
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr22:22,547,701...22,559,265
Ensembl chr22:22,547,701...22,559,361
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PRMT5 protein arginine methyltransferase 5 EXP CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408
JBrowse link
G PTCH1 patched 1 EXP
IAGP
ISS
ISO
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 chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G RASSF1 Ras association domain family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO
IAGP
ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:10783170 RGD:1302544 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G S100A10 S100 calcium binding protein A10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 1:151,982,915...151,993,859
Ensembl chr 1:151,982,915...151,993,859
JBrowse link
G S100A4 S100 calcium binding protein A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 1:153,543,621...153,545,806
Ensembl chr 1:153,543,613...153,550,136
JBrowse link
G S100A6 S100 calcium binding protein A6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 1:153,534,599...153,535,991
Ensembl chr 1:153,534,599...153,536,244
JBrowse link
G SCG5 secretogranin V EXP CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr15:32,641,710...32,697,092
Ensembl chr15:32,641,676...32,697,098
JBrowse link
G SCML2 Scm polycomb group protein like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:18,239,313...18,355,118
Ensembl chr  X:18,239,313...18,354,688
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:26619011 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SKP2 S-phase kinase associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SMO smoothened, frizzled class receptor treatment IAGP
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD
PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163 RGD:150521622 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SMYD4 SET and MYND domain containing 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr17:1,779,485...1,829,902
Ensembl chr17:1,779,485...1,830,634
JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STRADA STE20 related adaptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP
EXP
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
CTD Direct Evidence: marker/mechanism
protein:increased expression:brain (rat)
ClinVar
OMIM
CTD
RGD
PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More... RGD:1599191, RGD:150573693 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TP53 tumor protein p53 disease_progression ISO
IAGP
IEP
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
protein:increased expression:nucleus:
ClinVar
RGD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:1302544, RGD:8547823 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TSC2 TSC complex subunit 2 IAGP DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr19:6,772,708...6,857,361
Ensembl chr19:6,772,708...6,857,366
JBrowse link
G WRN WRN RecQ like helicase IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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 IAGP ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
desmoplastic/nodular medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID2 AT-rich interaction domain 2 IAGP ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
JBrowse link
G CTCF CCCTC-binding factor IAGP ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    disease of cellular proliferation 9741
      Neoplasms by Histologic Type 6420
        Glandular and Epithelial Neoplasms 4566
          astroblastoma 733
            Primitive Neuroectodermal Tumors 182
              medulloblastoma 83
                adult medulloblastoma 0
                brain stem medulloblastoma 0
                cerebellar medulloblastoma + 1
                cerebellar vermis medulloblastoma 0
                childhood medulloblastoma 0
                desmoplastic/nodular medulloblastoma 3
                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 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        central nervous system disease 23176
          brain disease 21615
            Brain Neoplasms 1911
              Supratentorial Neoplasms 947
                supratentorial cancer 947
                  cerebrum cancer 911
                    malignant astrocytoma 906
                      astroblastoma 733
                        Primitive Neuroectodermal Tumors 182
                          medulloblastoma 83
                            adult medulloblastoma 0
                            brain stem medulloblastoma 0
                            cerebellar medulloblastoma + 1
                            cerebellar vermis medulloblastoma 0
                            childhood medulloblastoma 0
                            desmoplastic/nodular medulloblastoma 3
                            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