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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Neoplasm of the central nervous system
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Accession:HP:0100006 term browser browse the term
Definition:A neoplasm of the central nervous system.
Synonyms:exact_synonym: Neoplasm of the CNS;   Tumors of the central nervous system;   Tumours of the central nervous system
 related_synonym: Neoplasia of the central nervous system
 xref: NCI:C3262;   SNOMEDCT_US:126951006;   UMLS:C0085136


show annotations for term's descendants           Sort by:
Neoplasm of the central nervous system term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G BDNF brain derived neurotrophic factor IAGP HPO ORPHA:661 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G EDN3 endothelin 3 IAGP HPO ORPHA:661 NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992 		JBrowse link
G EPHB2 EPH receptor B2 IAGP HPO MIM:603688 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500 		JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP HPO ORPHA:83469 NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525 		JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP HPO ORPHA:661 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G LBX1 ladybird homeobox 1 IAGP HPO ORPHA:661 NCBI chr10:101,226,994...101,229,463
Ensembl chr10:101,226,994...101,229,463 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO ORPHA:661 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:201 ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ClinVar Annotator: match by term: Neoplasm of the central nervous system ClinVar PMID:25741868 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:83469 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:613029 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CCM2 CCM2 scaffold protein IAGP HPO ORPHA:221061 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO MIM:155755 ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Astrocytoma HPO
ClinVar		 PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G EPHA5 EPH receptor A5 IAGP ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 4:65,319,567...65,670,489
Ensembl chr 4:65,319,563...65,670,495 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO MIM:137800 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Astrocytoma ClinVar
HPO		 PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... MIM:613001 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H3-3A H3.3 histone A IAGP ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:26619011 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Astrocytoma ClinVar
HPO		 PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... MIM:137800 ORPHA:163634 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:163634 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP HPO ORPHA:221061 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:276300 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH3 mutS homolog 3 IAGP HPO MIM:617100 ORPHA:480536 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
G MSH6 mutS homolog 6 IAGP HPO MIM:619097 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO MIM:162200 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO MIM:101000 ORPHA:637 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PDCD10 programmed cell death 10 IAGP HPO ORPHA:221061 NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:221061 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO MIM:619101 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Astrocytoma HPO
ClinVar		 PMID:1200021 PMID:9525742 PMID:9546439 PMID:9627118 PMID:10557074 More... MIM:137800 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Astrocytoma ClinVar
HPO		 PMID:25741868 MIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Benign neoplasm of the central nervous system term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:440437 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:440437 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:440437 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:440437 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH2 mutS homolog 2 IAGP HPO ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP HPO ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:2591 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO ORPHA:2591 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:1338 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
Brain neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP HPO ORPHA:79501 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G ACRBP acrosin binding protein IAGP ClinVar Annotator: match by term: Brain tumor ClinVar NCBI chr12:6,638,075...6,647,432
Ensembl chr12:6,638,075...6,647,433 		JBrowse link
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Brain tumor
ClinVar Annotator: match by term: Brain neoplasm		 ClinVar PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:21242967 More... NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:79665 ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Brain tumor
ClinVar Annotator: match by term: Brain neoplasm		 ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO ORPHA:100070 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP HPO ORPHA:79501 NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Brain tumor ClinVar PMID:25157968 PMID:26619011 PMID:26822237 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Brain tumor
ClinVar Annotator: match by term: Brain neoplasm		 ClinVar PMID:17177598 PMID:26619011 PMID:28492532 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:370348 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G GRN granulin precursor IAGP HPO ORPHA:100070 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G H3-3A H3.3 histone A IAGP ClinVar Annotator: match by term: Brain tumor ClinVar PMID:26619011 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Brain tumor
ClinVar Annotator: match by term: Brain neoplasm		 ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Brain tumor ClinVar PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 More... NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Brain neoplasm ClinVar PMID:25157968 PMID:26619011 PMID:26822237 NCBI chr 3:41,224,408...41,225,607 JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:100070 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Brain tumor
ClinVar Annotator: match by term: Brain neoplasm		 ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Brain tumor
ClinVar Annotator: match by term: Brain neoplasm		 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Brain tumor
ClinVar Annotator: match by term: Brain neoplasm		 ClinVar PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:447877 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:447877 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO ORPHA:100070 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Brain neoplasm ClinVar PMID:9259288 PMID:9399897 PMID:9467011 PMID:9619835 PMID:9856571 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Brain tumor
ClinVar Annotator: match by term: Brain neoplasm		 ClinVar PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO ORPHA:100070 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Brain tumor
ClinVar Annotator: match by term: Brain neoplasm		 ClinVar PMID:124622 PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:100070 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Brain tumor ClinVar PMID:10205261 PMID:10533067 PMID:10735580 PMID:11208653 PMID:11603814 More... NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:100070 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Brainstem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 More... NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:17177598 PMID:26619011 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More... NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H3-3A H3.3 histone A IAGP ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:26619011 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H3C11 H3 clustered histone 11 IAGP ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:26619011 NCBI chr 6:27,871,845...27,872,346
Ensembl chr 6:27,871,845...27,872,346 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 More... NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:124622 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Cerebellar glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Cerebellar hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Hemangioblastoma, sporadic cerebellar ClinVar NCBI chr 3:10,142,339...10,160,352 JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Hemangioblastoma, sporadic cerebellar ClinVar
HPO		 PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... MIM:193300 ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
Cerebellar 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 IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP HPO ORPHA:276399 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP HPO ORPHA:276399 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
Choroid plexus carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G FOXO3 forkhead box O3 IAGP ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO MIM:609322 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Choroid plexus carcinoma HPO
ClinVar		 PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... MIM:202300 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Choroid plexus papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:249400 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Choroid plexus papilloma ClinVar
HPO		 PMID:224644 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More... MIM:260500 ORPHA:2807 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Cortical tubers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma IAGP HPO MIM:613254 ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Cortical tubers ClinVar
HPO		 PMID:9924605 PMID:10227394 PMID:10363127 PMID:11112665 PMID:12015165 More... MIM:191100 ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Cortical tubers ClinVar
HPO		 PMID:10205261 PMID:16199547 PMID:17304050 PMID:25741868 PMID:25927202 More... MIM:613254 ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRA2 adhesion G protein-coupled receptor A2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 8:37,796,883...37,844,896
Ensembl chr 8:37,784,191...37,844,896 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARHGAP32 Rho GTPase activating protein 32 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:128,965,060...129,279,632
Ensembl chr11:128,965,060...129,279,324 		JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,014,160...65,022,184
Ensembl chr11:65,014,160...65,022,184 		JBrowse link
G ATG2A autophagy related 2A IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,894,546...64,917,209
Ensembl chr11:64,894,546...64,917,209 		JBrowse link
G BAD BCL2 associated agonist of cell death IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704 		JBrowse link
G BANP BTG3 associated nuclear protein IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr16:87,949,238...88,077,318
Ensembl chr16:87,949,244...88,077,318 		JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,987,945...64,996,971
Ensembl chr11:64,987,945...64,997,018 		JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr22:36,560,857...36,703,752
Ensembl chr22:36,560,857...36,703,752 		JBrowse link
G CAPN1 calpain 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006 		JBrowse link
G CATSPERZ catsper channel auxiliary subunit zeta IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,300,358...64,304,770
Ensembl chr11:64,300,358...64,304,770 		JBrowse link
G CCDC88B coiled-coil domain containing 88B IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,340,204...64,357,534
Ensembl chr11:64,340,204...64,357,534 		JBrowse link
G CDC42BPG CDC42 binding protein kinase gamma IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,823,052...64,844,653
Ensembl chr11:64,823,052...64,844,653 		JBrowse link
G CDC42EP2 CDC42 effector protein 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,314,866...65,322,417
Ensembl chr11:65,314,866...65,322,417 		JBrowse link
G CDCA5 cell division cycle associated 5 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,061,093...65,084,040
Ensembl chr11:65,066,300...65,084,164 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G COX8A cytochrome c oxidase subunit 8A IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,230,432...64,234,281
Ensembl chr11:64,230,278...64,234,286 		JBrowse link
G DPF2 double PHD fingers 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,576,053...65,592,650
Ensembl chr11:65,576,046...65,592,650 		JBrowse link
G EHD1 EH domain containing 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,851,642...64,879,693
Ensembl chr11:64,851,642...64,888,296 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO MIM:137800 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ESRRA estrogen related receptor alpha IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,305,524...64,316,743
Ensembl chr11:64,305,497...64,316,743 		JBrowse link
G FAM89B family with sequence similarity 89 member B IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,572,538...65,574,190
Ensembl chr11:65,572,349...65,574,198 		JBrowse link
G FAU FAU ubiquitin like and ribosomal protein S30 fusion IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,120,630...65,122,134
Ensembl chr11:65,120,630...65,122,177 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G FKBP2 FKBP prolyl isomerase 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,241,095...64,244,135
Ensembl chr11:64,241,003...64,244,132 		JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173 		JBrowse link
G FRMD8 FERM domain containing 8 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,368,026...65,426,526
Ensembl chr11:65,386,621...65,413,525 		JBrowse link
G GLB1 galactosidase beta 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GON4L gon-4 like IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:155,745,112...155,859,431
Ensembl chr 1:155,749,659...155,859,400 		JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,934,471...64,937,708
Ensembl chr11:64,934,471...64,935,893 		JBrowse link
G GPR137 G protein-coupled receptor 137 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,270,531...64,289,500
Ensembl chr11:64,270,062...64,289,494 		JBrowse link
G HDAC3 histone deacetylase 3 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO MIM:137800 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031 		JBrowse link
G KCNK7 potassium two pore domain channel subfamily K member 7 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,592,836...65,595,800
Ensembl chr11:65,592,836...65,595,996 		JBrowse link
G KLHL21 kelch like family member 21 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:6,590,724...6,602,869
Ensembl chr 1:6,590,724...6,614,607 		JBrowse link
G KREMEN2 kringle containing transmembrane protein 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr16:2,964,275...2,968,380
Ensembl chr16:2,964,216...2,968,380 		JBrowse link
G LATS1 large tumor suppressor kinase 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LOC129994870 ATAC-STARR-seq lymphoblastoid silent region 16458 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:141,636,736...141,637,025 JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:63,998,558...64,166,113
Ensembl chr11:63,998,558...64,166,113 		JBrowse link
G MAJIN membrane anchored junction protein IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,938,230...64,972,108
Ensembl chr11:64,937,517...64,972,108 		JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,640...65,508,073 		JBrowse link
G MAP3K11 mitogen-activated protein kinase kinase kinase 11 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,597,757...65,614,221
Ensembl chr11:65,597,756...65,615,382 		JBrowse link
G MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,784,918...64,803,214
Ensembl chr11:64,784,918...64,803,241 		JBrowse link
G MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:39,249,266...39,437,285
Ensembl chr 2:39,249,266...39,437,301 		JBrowse link
G MARK2 microtubule affinity regulating kinase 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:63,839,110...63,911,020
Ensembl chr11:63,838,928...63,911,020 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar
HPO		 ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MIR192 microRNA 192 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246 		JBrowse link
G MIR194-2 microRNA 194-2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,891,355...64,891,439
Ensembl chr11:64,891,355...64,891,439 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:276300 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,122,183...65,127,371
Ensembl chr11:65,122,183...65,127,371 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar PMID:11726306 PMID:15849733 PMID:17101317 PMID:25741868 PMID:28492532 More... NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:63,939,002...63,957,319
Ensembl chr11:63,938,959...63,957,319 		JBrowse link
G NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,044,818...65,061,203
Ensembl chr11:65,044,818...65,058,553 		JBrowse link
G NEAT1 nuclear paraspeckle assembly transcript 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,422,798...65,445,540
Ensembl chr11:65,422,774...65,445,540 		JBrowse link
G NET1 neuroepithelial cell transforming 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr10:5,412,557...5,459,056
Ensembl chr10:5,412,557...5,459,056 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Ependymoma ClinVar
HPO		 MIM:101000 ORPHA:637 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G NRXN2 neurexin 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,606,174...64,723,197
Ensembl chr11:64,606,174...64,723,197 		JBrowse link
G NUDT22 nudix hydrolase 22 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,226,258...64,230,269
Ensembl chr11:64,225,941...64,230,686 		JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:63,986,438...63,998,412
Ensembl chr11:63,985,853...64,001,811 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PATZ1 POZ/BTB and AT hook containing zinc finger 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr22:31,325,804...31,346,346
Ensembl chr22:31,325,804...31,346,346 		JBrowse link
G PCNX3 pecanex 3 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,615,776...65,637,439
Ensembl chr11:65,615,776...65,637,439 		JBrowse link
G PLCB3 phospholipase C beta 3 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,530...64,269,150 		JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,261,962...65,305,985
Ensembl chr11:65,261,913...65,305,959 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,244,479...64,246,943
Ensembl chr11:64,244,479...64,246,943 		JBrowse link
G PPP2R5B protein phosphatase 2 regulatory subunit B'beta IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,917,573...64,934,475
Ensembl chr11:64,917,553...64,934,475 		JBrowse link
G PRDX5 peroxiredoxin 5 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,318,121...64,321,811
Ensembl chr11:64,318,121...64,321,811 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,726,911...64,745,456
Ensembl chr11:64,726,911...64,745,456 		JBrowse link
G RCOR2 REST corepressor 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:63,911,230...63,927,762
Ensembl chr11:63,911,230...63,917,164 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Ependymoma ClinVar PMID:25741868 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RPS6KA4 ribosomal protein S6 kinase A4 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,359,162...64,372,215
Ensembl chr11:64,359,148...64,372,215 		JBrowse link
G SAC3D1 SAC3 domain containing 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,040,933...65,044,828
Ensembl chr11:65,040,901...65,044,828 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SETD9 SET domain containing 9 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:56,909,260...56,928,900
Ensembl chr 5:56,909,260...56,925,532 		JBrowse link
G SF1 splicing factor 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,764,606...64,778,542
Ensembl chr11:64,764,606...64,778,786 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SIPA1 signal-induced proliferation-associated 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,638,101...65,650,912
Ensembl chr11:65,638,101...65,650,918 		JBrowse link
G SLC22A11 solute carrier family 22 member 11 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,555,941...64,572,875
Ensembl chr11:64,555,690...64,572,875 		JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353 		JBrowse link
G SLC25A45 solute carrier family 25 member 45 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,375,192...65,383,701
Ensembl chr11:65,375,192...65,383,701 		JBrowse link
G SLC39A11 solute carrier family 39 member 11 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr17:72,645,949...73,092,688
Ensembl chr17:72,645,949...73,092,712 		JBrowse link
G SNX15 sorting nexin 15 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,027,439...65,040,572
Ensembl chr11:65,027,439...65,040,572 		JBrowse link
G SPDYC speedy/RINGO cell cycle regulator family member C IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,170,233...65,173,374
Ensembl chr11:65,170,233...65,173,374 		JBrowse link
G SPINDOC spindlin interactor and repressor of chromatin binding IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:63,813,456...63,827,716
Ensembl chr11:63,813,456...63,827,716 		JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:155,612,586...155,782,459
NCBI chr  Y:56,923,423...56,968,979
Ensembl chr  X:155,612,572...155,782,459 		JBrowse link
G STIP1 stress induced phosphoprotein 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,185,272...64,204,543
Ensembl chr11:64,185,272...64,204,543 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYVN1 synoviolin 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,127,279...65,134,519
Ensembl chr11:65,121,780...65,134,532 		JBrowse link
G TASOR transcription activation suppressor IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 3:56,620,132...56,683,265
Ensembl chr 3:56,620,132...56,683,265 		JBrowse link
G TIGD3 tigger transposable element derived 3 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,354,751...65,357,613
Ensembl chr11:65,354,751...65,357,613 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384 		JBrowse link
G TP53 tumor protein p53 IAGP HPO MIM:137800 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRAF3 TNF receptor associated factor 3 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500 		JBrowse link
G TRMT112 tRNA methyltransferase activator subunit 11-2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,316,460...64,318,596
Ensembl chr11:64,316,460...64,317,559 		JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr15:31,001,065...31,161,160
Ensembl chr15:31,001,065...31,161,160 		JBrowse link
G TRPT1 tRNA phosphotransferase 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,223,799...64,226,257
Ensembl chr11:64,223,799...64,226,254 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G VBP1 VHL binding protein 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:155,197,007...155,239,841
Ensembl chr  X:155,197,007...155,239,841 		JBrowse link
G VEGFB vascular endothelial growth factor B IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:64,234,584...64,239,264
Ensembl chr11:64,234,584...64,239,264 		JBrowse link
G VPS51 VPS51 subunit of GARP complex IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862 		JBrowse link
G ZFPL1 zinc finger protein like 1 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,084,222...65,088,398
Ensembl chr11:65,084,210...65,088,398 		JBrowse link
G ZFTA zinc finger translocation associated IAGP ClinVar Annotator: match by term: Ependymoma ClinVar
HPO		 ORPHA:251636 NCBI chr11:63,759,892...63,768,775
Ensembl chr11:63,759,892...63,768,775 		JBrowse link
G ZNHIT2 zinc finger HIT-type containing 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,116,403...65,117,701
Ensembl chr11:65,116,403...65,117,701 		JBrowse link
G ZNRD2 zinc ribbon domain containing 2 IAGP ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:65,570,477...65,571,888
Ensembl chr11:65,570,460...65,573,942 		JBrowse link
Filum terminale lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC14 trafficking protein particle complex subunit 14 IAGP HPO MIM:618351 NCBI chr 7:100,154,423...100,158,723
Ensembl chr 7:100,154,420...100,158,723 		JBrowse link
Ganglioglioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated deubiquitinase 1 IAGP ClinVar Annotator: match by term: Ganglioglioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Ganglioglioma ClinVar PMID:7607663 PMID:10712197 PMID:15523642 PMID:16835897 PMID:16944272 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BDNF brain derived neurotrophic factor IAGP HPO ORPHA:661 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G EDN3 endothelin 3 IAGP HPO ORPHA:661 NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992 		JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP HPO ORPHA:661 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO MIM:256700 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LBX1 ladybird homeobox 1 IAGP HPO ORPHA:661 NCBI chr10:101,226,994...101,229,463
Ensembl chr10:101,226,994...101,229,463 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO MIM:209880 MIM:613013 ORPHA:2151 ORPHA:661 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
Glioblastoma multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Glioblastoma HPO
ClinVar		 PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 More... ORPHA:440437 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:440437 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:613029 ORPHA:440437 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:440437 ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 More... NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO MIM:137800 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H3-3A H3.3 histone A IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 PMID:26822237 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar
HPO		 PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... MIM:137800 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26822237 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:276300 ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar
HPO		 PMID:25741868 MIM:619096 ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP HPO MIM:619097 ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 More... NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar
HPO		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO MIM:619101 ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Glioblastoma HPO
ClinVar		 PMID:25228659 PMID:26619011 PMID:27573199 PMID:28492532 PMID:29352080 ORPHA:440437 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:1336932 PMID:1945792 PMID:9140396 PMID:9241266 PMID:9259288 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Glioblastoma multiforme ClinVar PMID:25741868 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Glioblastoma ClinVar
HPO		 PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 PMID:1565143 More... MIM:137800 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO MIM:609265 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease susceptibility IAGP DNA:SNP:cd: p.D1558H (rs17655) (human) RGD PMID:23534771 RGD:401850601 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G NBN nibrin IAGP HPO MIM:251260 ORPHA:647 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:637 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Glioma ClinVar NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO MIM:241800 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility IAGP DNA:SNP:exon 10: p.R399Q (human)
DNA:SNP:cd: p.Q399R (rs25487) (human)		 RGD PMID:18330515 PMID:23534771 RGD:401827274, RGD:401850601 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 susceptibility IAGP DNA:SNP:exon 8: p.T241M (rs861539) (Human)
DNA:SNP:cd: p.T241M (rs861539) (Human)		 RGD PMID:18330515 PMID:23534771 RGD:401827274, RGD:401850601 NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504 		JBrowse link
Hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
Hypothalamic hamartoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO MIM:277170 ORPHA:2754 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP HPO ORPHA:2754 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Hypothalamic hamartoma		 ClinVar
HPO
RGD		 PMID:25741868 PMID:28492532 PMID:15739154 MIM:146510 ORPHA:672, RGD:12738222 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:2754 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2754 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LOC129999303 ATAC-STARR-seq lymphoblastoid silent region 18626 IAGP ClinVar Annotator: match by term: Hypothalamic hamartoma ClinVar PMID:25741868 NCBI chr 7:129,189,070...129,189,329 JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO MIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:311200 ORPHA:2754 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:2754 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO MIM:206900 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP ClinVar Annotator: match by term: Hypothalamic hamartoma ClinVar
HPO		 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30497210 More... MIM:241800 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO MIM:206900 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2754 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TIAM1 TIAM Rac1 associated GEF 1 IAGP HPO MIM:619908 NCBI chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:2754 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2754 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:2754 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
Intracranial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 ORPHA:637 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
Localized neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO ORPHA:2505 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G TUBB tubulin beta class I IAGP HPO MIM:156610 ORPHA:2505 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
Malignant neoplasm of the central nervous system term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:99966 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		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 IAGP HPO MIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 More... NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar
HPO		 PMID:251866 PMID:278235 PMID:1772447 PMID:2200631 PMID:2661312 More... MIM:155255 MIM:613029 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar
HPO		 PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... MIM:155255 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar
HPO		 PMID:25741868 MIM:601200 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar
HPO		 PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 More... MIM:155255 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328 		JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FOXO3 forkhead box O3 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		JBrowse link
G GPR161 G protein-coupled receptor 161 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar
HPO		 PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 More... MIM:155255 NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:16301862 PMID:16419085 PMID:25741868 PMID:28492532 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC124416895 Sharpr-MPRA regulatory region 236 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:22508808 PMID:25403219 PMID:28492532 NCBI chr10:102,504,572...102,504,866 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LOC126806659 BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 3:41,233,427...41,234,626 JBrowse link
G LOC130004614 ATAC-STARR-seq lymphoblastoid silent region 2764 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:12068298 PMID:19833601 PMID:22508808 PMID:25403219 PMID:25741868 More... NCBI chr10:102,503,788...102,504,257 JBrowse link
G LOC130004615 ATAC-STARR-seq lymphoblastoid active region 3939 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:22508808 PMID:25403219 PMID:28492532 NCBI chr10:102,512,167...102,512,306 JBrowse link
G LOC130004616 ATAC-STARR-seq lymphoblastoid active region 3940 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:22508808 PMID:25403219 PMID:28492532 NCBI chr10:102,537,177...102,537,336 JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:276300 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249 		JBrowse link
G NBN nibrin IAGP HPO MIM:251260 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO MIM:610832 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Medulloblastoma HPO
ClinVar		 PMID:16301862 PMID:16419085 PMID:25741868 PMID:28492532 MIM:109400 ORPHA:377 ORPHA:77301 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:31945512 MIM:155255 ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SFXN2 sideroflexin 2 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,714,636...102,743,492
Ensembl chr10:102,714,538...102,743,492 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:23698369 PMID:26822237 PMID:26842758 PMID:28492532 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO MIM:609322 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:19726788 PMID:22679179 PMID:25759020 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar
HPO		 PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... MIM:155255 MIM:620343 ORPHA:377 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar
HPO		 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318 		JBrowse link
G WBP1L WW domain binding protein 1 like IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,743,948...102,816,262
Ensembl chr10:102,743,948...102,834,516 		JBrowse link
G WRN WRN RecQ like helicase IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
Meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:615109 ORPHA:201 ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ARMC5 armadillo repeat containing 5 IAGP HPO ORPHA:189427 NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO MIM:614327 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G CCM2 CCM2 scaffold protein IAGP HPO ORPHA:221061 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO MIM:609265 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G COQ6 coenzyme Q6, monooxygenase IAGP HPO ORPHA:93921 NCBI chr14:73,949,926...73,963,670
Ensembl chr14:73,949,926...73,963,670 		JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Meningioma ClinVar NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G EIF3F eukaryotic translation initiation factor 3 subunit F IAGP HPO MIM:618295 NCBI chr11:7,987,337...8,001,852
Ensembl chr11:7,970,251...8,001,862 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease susceptibility IAGP DNA:SNP:cd: p.D1558H (rs17655) (human) RGD PMID:23534771 RGD:401850601 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:189427 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO ORPHA:189427 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP HPO ORPHA:221061 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:93921 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP HPO MIM:619975 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP HPO MIM:607174 NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO MIM:162200 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Meningioma ClinVar
HPO		 PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9643284 More... MIM:101000 MIM:607174 ORPHA:637 ORPHA:93921 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:249400 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP HPO MIM:616415 ORPHA:454840 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G PDCD10 programmed cell death 10 IAGP HPO ORPHA:221061 NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP ClinVar Annotator: match by term: Meningioma ClinVar
HPO		 PMID:2212004 PMID:3133569 PMID:3969118 MIM:607174 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:602501 MIM:615108 ORPHA:201 ORPHA:221061 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:377 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP HPO ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Meningioma HPO
ClinVar		 PMID:792966 PMID:12085208 PMID:17873882 PMID:19340001 PMID:19458356