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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;   brain medulloblastoma;   circumscribed arachnoidal cerebellar sarcoma;   desmoplastic medulloblastoma;   desmoplastic medulloblastomas;   infratentorial primitive neuroectodermal tumor;   localized primitive neuroectodermal tumor;   medulloblastomas;   melanocytic medulloblastoma;   melanocytic medulloblastomas
 narrow_synonym: MBEN;   medulloblastoma with extensive nodularity;   medulloblastoma, somatic
 primary_id: MESH:D008527
 alt_id: OMIM:155255
 xref: GARD:7005;   NCI:C27294;   NCI:C3222;   NCI:C3716;   ORDO:616
For additional species annotation, visit the Alliance of Genome Resources.


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medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD PMID:7661930, PMID:17238184 RGD:6484523 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26719535 PMID:28492532 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
OMIM
ClinVar
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:12373604 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16683254 PMID:16825431 PMID:16912212 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19471317 PMID:19654294 PMID:19863560 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24504028 PMID:24728189 PMID:24830819 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26064523 PMID:26187060 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:28008555 PMID:28039656 PMID:28294317 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29478780 PMID:29492181 PMID:29753700 PMID:29907814 PMID:29909963 PMID:30287823 PMID:30350268 PMID:32295079, PMID:17476307 RGD:11038793 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Brd3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Ccnd1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
JBrowse link
G Cdk6 cyclin-dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:23138228, PMID:16314645 RGD:13702096 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
JBrowse link
G Crebbp CREB binding protein ISO 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:29551561 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar
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:23265383 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26619011 PMID:26822237 PMID:27959697 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr10:62,007,150...62,010,774
Ensembl chr10:62,007,150...62,009,582
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
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 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Ifng interferon gamma ISS OMIM:155255 MouseDO NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19270706, PMID:19270706 RGD:9587481 NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19270706, PMID:19270706 RGD:9587481 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:122,896,860...122,918,025
Ensembl chr 7:122,896,871...122,918,036
JBrowse link
G L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:19,998,776...20,097,298
Ensembl chr 1:20,022,793...20,097,099
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:140,691,947...140,698,837
Ensembl chr 5:140,692,779...140,698,609
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
CTD
ClinVar
PMID:19270706 PMID:26619011 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:71,324,365...71,342,225
Ensembl chr  X:71,324,365...71,342,225
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Medulloblastoma 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:26619011 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha severity ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706, PMID:25576913 RGD:13702904 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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 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:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23100325 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
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 chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
CTD
ClinVar
PMID:18347096 PMID:19155313 PMID:19213072 PMID:25741868 PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ptch2 patched 2 ISO OMIM NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:28492532, PMID:10783170 RGD:1302544 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G S100a10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:193,892,589...193,901,236
Ensembl chr 2:193,892,589...193,901,236
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:189,997,278...189,999,587
Ensembl chr 2:189,997,129...189,999,604
JBrowse link
G S100a6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:190,007,013...190,008,512
Ensembl chr 2:190,007,216...190,008,511
JBrowse link
G Scg5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 3:105,235,065...105,279,475
Ensembl chr 3:105,235,050...105,279,462
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:58,506,146...58,534,211
Ensembl chr 2:58,506,151...58,534,211
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:26822237 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Smo smoothened, frizzled class receptor ISO
ISS
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255
ClinVar
MouseDO
PMID:19726788 PMID:22679179 PMID:25759020 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
G Smyd4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:62,191,669...62,237,939
Ensembl chr10:62,191,656...62,238,113
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Strada STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Medulloblastoma, desmoplastic
ClinVar Annotator: match by OMIM:155255
ClinVar Annotator: match by term: Medulloblastoma, desmoplastic, UMLS MESH term: Arachnoidal Cerebellar Sarcoma, Circumscribed
ClinVar
OMIM
PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:24728327 PMID:25326637 PMID:25403219 PMID:25741868 PMID:28492532 PMID:29641532, PMID:12068298 RGD:1599191 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO ClinVar Annotator: match by term: Medulloblastoma, somatic
protein:increased expression:nucleus:
ClinVar PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1683921 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8062826 PMID:8099841 PMID:8164043 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8825920 PMID:9096669 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9635828 PMID:9825943 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: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:17417627 PMID:17427234 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18685109 PMID:19378321 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22983585 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23538418 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:25525159 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28915717 PMID:29025599 PMID:29416011 PMID:29478780 PMID:29489754 PMID:29752822 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721, PMID:10783170, PMID:11451203 RGD:1302544, RGD:8547823 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
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:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:28492532 NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
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 chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of cellular proliferation 5907
      Neoplasms by Histologic Type 3699
        Glandular and Epithelial Neoplasms 2280
          astroblastoma 233
            Primitive Neuroectodermal Tumors 143
              medulloblastoma 71
                adult medulloblastoma 0
                brain stem medulloblastoma 0
                cerebellar medulloblastoma + 1
                cerebellar vermis medulloblastoma 0
                childhood medulloblastoma 0
                large cell medulloblastoma 0
                medulloblastoma SHH activated + 0
                medulloblastoma WNT activated 0
                medulloblastoma non-WNT/non-SHH + 0
                medullomyoblastoma 0
                melanotic medulloblastoma 0
                nodular medulloblastoma 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            Brain Neoplasms 717
              Supratentorial Neoplasms 431
                supratentorial cancer 431
                  cerebrum cancer 379
                    malignant astrocytoma 377
                      astroblastoma 233
                        Primitive Neuroectodermal Tumors 143
                          medulloblastoma 71
                            adult medulloblastoma 0
                            brain stem medulloblastoma 0
                            cerebellar medulloblastoma + 1
                            cerebellar vermis medulloblastoma 0
                            childhood medulloblastoma 0
                            large cell medulloblastoma 0
                            medulloblastoma SHH activated + 0
                            medulloblastoma WNT activated 0
                            medulloblastoma non-WNT/non-SHH + 0
                            medullomyoblastoma 0
                            melanotic medulloblastoma 0
                            nodular medulloblastoma 0
paths to the root