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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


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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 chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104 		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 chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876 		JBrowse link
G CDK6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24098593 NCBI chr 7:84,603,419...84,835,082 JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24098593 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D ISO CTD Direct Evidence: marker/mechanism CTD PMID:24880341 NCBI chr17:54,698,338...54,761,889
Ensembl chr17:59,824,566...59,887,015 		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 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		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 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564 		JBrowse link
G CTCF CCCTC-binding factor ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
diffuse intrinsic pontine glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 More... NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK3 ankyrin 3 ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr10:56,560,589...57,269,952
Ensembl chr10:58,790,696...59,602,954 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism
associated with Adenomatous Polyposis Coli;DNA:mutations: :		 CTD
RGD		 PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr 6:154,581,148...155,018,706 JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 4:86,188,534...86,191,301
Ensembl chr 4:96,863,762...96,864,832 		JBrowse link
G BAP1 BRCA1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 More... NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma OMIM
ClinVar		 PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 More... NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332 		JBrowse link
G BRD2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031 		JBrowse link
G BRD3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419 		JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600 		JBrowse link
G CCND1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CCNE1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295 		JBrowse link
G CDK6 cyclin dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16314645 PMID:19270706 PMID:23138228 RGD:13702096 NCBI chr 7:84,603,419...84,835,082 JBrowse link
G CDK9 cyclin dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 9:98,905,468...98,909,923
Ensembl chr 9:127,580,862...127,584,935 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma OMIM
ClinVar		 PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:33,780,381...33,796,829
Ensembl chr  X:41,475,116...41,505,837 		JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma		 OMIM
ClinVar		 PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 More... NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312 		JBrowse link
G FOXO3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272 		JBrowse link
G GPR161 G protein-coupled receptor 161 ISO ClinVar Annotator: match by term: Medulloblastoma OMIM
ClinVar		 PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 More... NCBI chr 1:143,566,775...143,625,357
Ensembl chr 1:147,299,350...147,350,451 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr17:2,045,960...2,051,483 JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175 		JBrowse link
G IRS2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr13:90,886,095...90,917,724 JBrowse link
G KAT6A lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538 		JBrowse link
G KDM4B lysine demethylase 4B ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19270706 RGD:9587481 NCBI chr19:3,986,296...4,172,359
Ensembl chr19:4,977,413...5,116,113 		JBrowse link
G KDM4C lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain (human)		 CTD
RGD		 PMID:19270706 RGD:9587481 NCBI chr 9:6,568,569...6,978,741
Ensembl chr 9:6,746,265...7,155,298 		JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr22:22,102,348...22,128,351
Ensembl chr22:40,193,492...40,218,925 		JBrowse link
G L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:127,814,847...127,938,220
Ensembl chr 6:131,922,967...132,045,708 		JBrowse link
G LOC100995589 uncharacterized LOC100995589 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr2A:15,923,366...15,926,680 JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:39,184,883...39,191,413
Ensembl chr 1:40,510,820...40,517,821 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr2A:15,925,130...15,931,605 JBrowse link
G NONO non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:60,547,277...60,564,845
Ensembl chr  X:70,602,456...70,619,956 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G OTX2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr14:37,370,926...37,381,610
Ensembl chr14:55,641,349...55,651,012 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma		 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614 		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 chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:16301862 PMID:16419085 PMID:22952776 PMID:25741868 PMID:28492532 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G PTCH2 patched 2 ISO OMIM NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 More... NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331 		JBrowse link
G S100A10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 1:127,341,974...127,353,054
Ensembl chr 1:130,985,312...130,995,130 		JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 1:128,898,765...128,901,042
Ensembl chr 1:132,527,846...132,530,122 		JBrowse link
G S100A6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 1:128,889,749...128,891,425
Ensembl chr 1:132,518,834...132,520,499 		JBrowse link
G SCG5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr15:11,136,920...11,192,606
Ensembl chr15:29,974,633...30,030,291 		JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:10,862,608...10,977,851
Ensembl chr  X:18,226,256...18,344,155 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772 		JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:23698369 PMID:26822237 PMID:26842758 PMID:28492532 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO ClinVar Annotator: match by term: Medulloblastoma RGD
ClinVar		 PMID:19726788 PMID:22084163 PMID:22679179 PMID:25759020 RGD:150521622 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
G SMYD4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr17:1,764,307...1,813,532
Ensembl chr17:1,657,413...1,705,277 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G STRADA STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr17:57,783,114...57,822,056
Ensembl chr17:62,929,065...62,967,021 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma ClinVar
OMIM		 PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More... NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO protein:increased expression:nucleus:
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic		 RGD
ClinVar		 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:8547823 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TSC2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785 		JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112 		JBrowse link
G WRN WRN RecQ like helicase ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr 8:30,353,643...30,492,978
Ensembl chr 8:27,541,145...27,679,855 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          Central Nervous System Neoplasms 1385
            Brain Neoplasms 1338
              Infratentorial Neoplasms 85
                Brain Stem Neoplasms 4
                Cerebellar Neoplasms + 3
                infratentorial cancer + 82
paths to the root