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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:Infratentorial Neoplasms
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Accession:DOID:9001662 term browser browse the term
Definition:Intracranial tumors originating in the region of the brain inferior to the tentorium cerebelli, which contains the cerebellum, fourth ventricle, cerebellopontine angle, brain stem, and related structures. Primary tumors of this region are more frequent in children, and may present with ATAXIA; CRANIAL NERVE DISEASES; vomiting; HEADACHE; HYDROCEPHALUS; or other signs of neurologic dysfunction. Relatively frequent histologic subtypes include TERATOMA; MEDULLOBLASTOMA; GLIOBLASTOMA; ASTROCYTOMA; EPENDYMOMA; CRANIOPHARYNGIOMA; and choroid plexus papilloma (PAPILLOMA, CHOROID PLEXUS).
Synonyms:exact_synonym: Infratentorial Neoplasm;   Infratentorial Tumor;   Infratentorial Tumors;   Malignant Infratentorial Neoplasm;   Malignant Infratentorial Neoplasms;   Posterior Fossa Neoplasm;   Posterior Fossa Neoplasms;   Posterior Fossa Tumor;   Posterior Fossa Tumors;   benign infratentorial neoplasm;   benign infratentorial neoplasms
 primary_id: MESH:D015192
 alt_id: RDO:0005157
For additional species annotation, visit the Alliance of Genome Resources.


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Adult Cerebral Astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
brain stem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
Brain Stem Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk4 cyclin-dependent kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24098593 NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24098593 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24098593 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO CTD Direct Evidence: marker/mechanism CTD PMID:24880341 NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
diffuse midline glioma, H3 K27M-mutant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674 NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 More... NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26719535 PMID:28492532 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Medulloblastoma, somatic OMIM
ClinVar
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 More... RGD:11038793 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
JBrowse link
G Brd3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Ccnd1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
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 More... NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:9,479,532...9,493,455
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475
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 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Ifng interferon gamma ISS OMIM:155255 MouseDO NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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 9:1,158,737...1,237,228
Ensembl chr 9:1,158,752...1,236,543
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 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
JBrowse link
G L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:18,988,763...19,089,247
Ensembl chr 1:18,990,618...19,089,263
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582
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 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
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 chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096
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 chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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 chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ptch2 patched 2 ISO OMIM NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G S100a10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
JBrowse link
G S100a6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
JBrowse link
G Scg5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Smyd4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:60,200,067...60,246,387
Ensembl chr10:60,200,114...60,246,387
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Strada STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Medulloblastoma, desmoplastic
ClinVar Annotator: match by term: Medulloblastoma with extensive nodularity
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by OMIM:155255
ClinVar
OMIM
PMID:12068298 PMID:16199547 PMID:19533801 PMID:19833601 PMID:21188540 More... RGD:1599191 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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 More... RGD:1302544, RGD:8547823 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          Central Nervous System Neoplasms 1365
            Brain Neoplasms 1307
              Infratentorial Neoplasms 83
                Brain Stem Neoplasms 4
                Cerebellar Neoplasms + 3
                infratentorial cancer + 80
paths to the root