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
Accession: DOID:0050902
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
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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
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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
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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
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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
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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
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BAP1
BRCA1 associated protein 1
IAGP
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 PMID:32068069 More...
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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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 PMID:9150172 PMID:9150174 PMID:9667259 PMID:9792861 PMID:10644434 PMID:10660329 PMID:10790213 PMID:10978364 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11597388 PMID:11802209 PMID:11843247 PMID:11857748 PMID:12065746 PMID:12373604 PMID:12655567 PMID:12845657 PMID:12955716 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15070707 PMID:15131399 PMID:15168169 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16030099 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16683254 PMID:16758124 PMID:16825431 PMID:16905680 PMID:16912212 PMID:16920162 PMID:17063270 PMID:17148771 PMID:17301269 PMID:17513806 PMID:17574839 PMID:17688236 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18393245 PMID:18446624 PMID:18465347 PMID:18489799 PMID:18703817 PMID:18704680 PMID:19016756 PMID:19241424 PMID:19491284 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19863560 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20167696 PMID:20373018 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21520273 PMID:21643751 PMID:21702907 PMID:21709188 PMID:21913181 PMID:21918853 PMID:21952622 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23096105 PMID:23199084 PMID:23233716 PMID:23318356 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23725378 PMID:23767878 PMID:23942203 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24301060 PMID:24312913 PMID:24504028 PMID:24528374 PMID:24556621 PMID:24607278 PMID:24728189 PMID:24814045 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25236687 PMID:25330149 PMID:25348012 PMID:25382762 PMID:25428789 PMID:25452441 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25927356 PMID:26026974 PMID:26064523 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26360800 PMID:26425718 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26580448 PMID:26657402 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26786923 PMID:26834852 PMID:26845104 PMID:27153395 PMID:27165126 PMID:27257965 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27553368 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28176296 PMID:28243543 PMID:28281021 PMID:28294317 PMID:28324225 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28715532 PMID:28724667 PMID:28726808 PMID:28831036 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29321669 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29371908 PMID:29446198 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29907814 PMID:29909963 PMID:29915322 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30199306 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30630528 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:30875412 PMID:30972954 PMID:31112363 PMID:31131967 PMID:31174498 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31331294 PMID:31360904 PMID:31396961 PMID:31411802 PMID:31447099 PMID:31451522 PMID:31589614 PMID:31721781 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31911673 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32098980 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32426482 PMID:32438681 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32846166 PMID:32853339 PMID:32875559 PMID:32885271 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33773534 PMID:33918338 PMID:34008015 PMID:34196900 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34657373 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35535697 PMID:35753294 PMID:36329109 PMID:36988593 PMID:17476307 More...
RGD:11038793
NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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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
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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
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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
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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
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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
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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
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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
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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 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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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 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23033978 PMID:23265383 PMID:24614104 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26822237 PMID:27915094 PMID:27959697 PMID:28333917 PMID:28492532 PMID:28575650 PMID:31526516 More...
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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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
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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
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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
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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
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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 PMID:16964593 PMID:17206408 PMID:17576681 PMID:18303054 PMID:20301359 PMID:22190446 PMID:22850346 PMID:22975760 PMID:23515154 PMID:24033266 PMID:24173031 PMID:25741868 PMID:26392352 PMID:27065010 PMID:28492532 PMID:29289840 PMID:29762696 PMID:32296180 More...
NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
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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
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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
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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
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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
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FGFR1
fibroblast growth factor receptor 1
IAGP
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:33448156 More...
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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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
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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
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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
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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
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GSTT1
glutathione S-transferase theta 1
IAGP
DNA:deletion: :
RGD
PMID:18952980
RGD:5490237
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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
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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 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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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
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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
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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
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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
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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
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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
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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
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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 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23033978 PMID:23265383 PMID:24614104 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26822237 PMID:27959697 PMID:28492532 PMID:28575650 More...
NCBI chr 3:41,224,408...41,225,607
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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 PMID:27915094 PMID:28333917 PMID:28492532 PMID:28575650 PMID:31526516 More...
NCBI chr 3:41,233,427...41,234,626
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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 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:29186568 PMID:29641532 PMID:29753700 PMID:33024317 PMID:34675124 PMID:35768194 PMID:36825822 More...
NCBI chr10:102,503,788...102,504,257
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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
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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
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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
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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
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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
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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
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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 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 More...
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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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
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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
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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 PMID:15805248 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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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
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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
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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
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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
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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 PMID:22952776 PMID:25741868 PMID:28492532 PMID:19321799 More...
RGD:150523834
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:22508808 PMID:24651015 PMID:24728327 PMID:25326637 PMID:25403219 PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:28717660 PMID:28873162 PMID:29186568 PMID:29641532 PMID:29753700 PMID:33024317 PMID:34056767 PMID:34675124 PMID:35768194 PMID:36825822 PMID:12068298 PMID:27234928 More...
RGD:1599191 , RGD:150573693
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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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 PMID:1683921 PMID:1737852 PMID:1978757 PMID:2046748 PMID:7732013 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8825920 PMID:9096669 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9635828 PMID:9704930 PMID:9825943 PMID:10089074 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12007217 PMID:12672316 PMID:12826609 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17606709 PMID:17636407 PMID:17881637 PMID:18511570 PMID:18685109 PMID:19378321 PMID:19454241 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21059199 PMID:21187651 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22484423 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23612969 PMID:23667202 PMID:23792586 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25339994 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26271412 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30546832 PMID:30816478 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31296311 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32906206 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:36988593 PMID:10783170 PMID:11451203 More...
RGD:1302544 , RGD:8547823
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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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
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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
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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
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WRN
WRN RecQ like helicase
IAGP
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 PMID:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:27667302 PMID:28492532 More...
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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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
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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
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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
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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
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