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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:nervous system cancer
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Accession:DOID:3093 term browser browse the term
Definition:An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. (DO)
Synonyms:exact_synonym: malignant neoplasm of nervous system
 xref: ICD9CM:192.9;   NCI:C35562
For additional species annotation, visit the Alliance of Genome Resources.


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acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Artn artemin ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:136,759,717...136,765,036
Ensembl chr 5:136,759,717...136,762,986
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Nf2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
ACTH-secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING
CTD
ClinVar
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:25485838 NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
JBrowse link
Adult Cerebral Astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
adult pineal parenchymal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mki67 marker of proliferation Ki-67 severity ISO RGD PMID:21696422 RGD:6483520 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
adult spinal cord ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Adult Spinal Cord Ependymoma ClinVar NCBI chr 3:156,937,746...157,099,328
Ensembl chr 3:156,937,733...157,099,306
JBrowse link
amelanotic melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15990972 NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
JBrowse link
anaplastic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21761402 PMID:22672556 PMID:23161690 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:25157968 PMID:25584008 PMID:25619955 PMID:25741868 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27621308 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30816478 PMID:32000721 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
anaplastic ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:21285249 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27616075 PMID:28492532 PMID:28678401 PMID:31636395 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
anaplastic oligodendroglioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Oligodendroglioma, anaplastic ClinVar NCBI chr 1:82,135,440...82,163,007
Ensembl chr 1:82,151,669...82,163,005
JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Neuroepithelial neoplasm ClinVar PMID:25186627 PMID:25741868 PMID:27696107 PMID:27997549 PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Mir542 microRNA 542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:158,152,146...158,152,224
Ensembl chr  X:158,152,146...158,152,224
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052, PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr20:13,692,102...13,707,645
Ensembl chr20:13,704,314...13,706,205
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609322
OMIM
ClinVar
PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 PMID:12226744 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18647326 PMID:19124645 PMID:19912265 PMID:21108436 PMID:21208904 PMID:23510391 PMID:24123847 PMID:24525513 PMID:24728327 PMID:24933152 PMID:25741868 PMID:28492532 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20522432 PMID:21343334 PMID:21761402 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:26205489 PMID:26225655 PMID:26619011 PMID:26786923 PMID:27621308 PMID:28492532 PMID:30816478 PMID:32000721 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
brain cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: brain cancer ClinVar NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L susceptibility ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human) RGD PMID:15543619 RGD:10002773 NCBI chr 1:86,994,090...87,006,776
Ensembl chr 1:86,996,093...87,006,776
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: brain cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
brain glioblastoma multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir139 microRNA 139 ISO RNA:decreased expression:brain: RGD PMID:26449464 RGD:13838722 NCBI chr 1:166,589,545...166,589,612
Ensembl chr 1:166,589,545...166,589,612
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
brain glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3a ADAM metallopeptidase domain 3A ISO DNA:deletion RGD PMID:21138945 RGD:13831351 NCBI chr16:72,086,878...72,136,685
Ensembl chr16:72,086,878...72,136,687
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP
IDA
RGD PMID:27255231, PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP
IDA
RGD PMID:27255231, PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO mRNA,protein:increased expression:brain: RGD PMID:21565182 RGD:14398497 NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
JBrowse link
G Casp3 caspase 3 treatment IDA RGD PMID:29324390 RGD:13792598 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:27255231 RGD:13792502 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Fas Fas cell surface death receptor treatment IDA RGD PMID:29324390 RGD:13792598 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand treatment IDA RGD PMID:29324390 RGD:13792598 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IEP RGD PMID:26032618 RGD:13792685 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
brain stem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
Carcinoid Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO protein:decreased expression:serum: RGD PMID:975003 RGD:11036087 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Eno2 enolase 2 ISO RGD PMID:17345775 RGD:2293739 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
Ensembl chr 9:157,285,179...157,294,047
JBrowse link
G Men1 menin 1 ISO DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) RGD PMID:16465412 RGD:2317351 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:12584572 RGD:2317635 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr10:84,165,950...84,166,059
Ensembl chr10:84,165,950...84,166,059
JBrowse link
G Mir127 microRNA 127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:133,713,430...133,713,526
Ensembl chr 6:133,713,430...133,713,526
JBrowse link
G Mir136 microRNA 136 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:133,716,761...133,716,842
Ensembl chr 6:133,716,761...133,716,842
JBrowse link
G Mir146a microRNA 146a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
JBrowse link
G Mir154 microRNA 154 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:133,888,586...133,888,669
Ensembl chr 6:133,888,586...133,888,669
JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir193a microRNA 193a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr10:67,065,885...67,065,996
Ensembl chr10:67,065,885...67,065,996
JBrowse link
G Mir222 microRNA 222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:3,683,919...3,684,021
Ensembl chr  X:3,683,919...3,684,021
JBrowse link
G Mir224 microRNA 224 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:152,223,754...152,223,835
Ensembl chr  X:152,223,754...152,223,835
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
JBrowse link
G Mir34b microRNA 34b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 8:55,492,542...55,492,625
Ensembl chr 8:55,492,542...55,492,625
JBrowse link
G Mir34c microRNA 34c ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 8:55,492,024...55,492,100
Ensembl chr 8:55,492,024...55,492,100
JBrowse link
G Mir370 microRNA 370 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:133,739,916...133,739,994
Ensembl chr 6:133,739,916...133,739,994
JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:133,893,419...133,893,495 JBrowse link
G Mir410 microRNA 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:133,893,997...133,894,072
Ensembl chr 6:133,893,993...133,894,073
JBrowse link
G Mir487b microRNA 487b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:133,877,124...133,877,205
Ensembl chr 6:133,877,124...133,877,205
JBrowse link
G Mir494 microRNA 494 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:133,864,370...133,864,452
Ensembl chr 6:133,864,369...133,864,453
JBrowse link
G Reg1a regenerating family member 1 alpha ISO associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human) RGD PMID:10348814 RGD:9850135 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
JBrowse link
cavernous sinus meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
JBrowse link
central nervous system lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ameliorates ISO RGD PMID:28552327 RGD:124715478 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (human) RGD PMID:22628023 RGD:7364831 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
childhood pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapk1 mitogen activated protein kinase 1 ISO protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
choroid plexus carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9242456 PMID:9598730 PMID:9825943 PMID:11051239 PMID:12826609 PMID:16489069 PMID:17417627 PMID:17427234 PMID:17606709 PMID:18762572 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20522432 PMID:21343334 PMID:22265402 PMID:22713868 PMID:23172776 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25925845 PMID:26467025 PMID:26619011 PMID:26787237 PMID:27374712 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
JBrowse link
G Arl11 ADP-ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,384,632...87,390,627 JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
JBrowse link
G LOC102554746 uncharacterized LOC102554746 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,559,028...45,581,410 JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,405,472...87,450,812
NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103
Ensembl chr15:39,712,861...39,742,103
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VAN ASPEREN SYNDROME
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 NCBI chr10:67,531,989...67,551,237 JBrowse link
conjunctival squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3a ADAM metallopeptidase domain 3A ISO DNA, mRNA:amplification, increase expression RGD PMID:25491297 RGD:13831354 NCBI chr16:72,086,878...72,136,685
Ensembl chr16:72,086,878...72,136,687
JBrowse link
corpus callosum lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Lipoma of corpus callosum ClinVar PMID:25741868 NCBI chr 8:50,200,069...50,222,655
Ensembl chr 8:50,200,069...50,222,630
JBrowse link
craniopharyngioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 PMID:9824584 PMID:10083733 PMID:11247896 PMID:12172928 PMID:12486240 PMID:15311282 PMID:15771908 PMID:16088911 PMID:17293347 PMID:18794146 PMID:19029688 PMID:20649969 PMID:20924072 PMID:22135120 PMID:23159591 PMID:25590978 PMID:25741868 PMID:26446593 PMID:26467025 PMID:26625971 PMID:26840078 PMID:27081525 PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:1157798 PMID:11802208 PMID:12161611 PMID:15744030 PMID:15923272 PMID:16489001 PMID:17403394 PMID:18036263 PMID:19404736 PMID:20516115 PMID:21702907 PMID:22034289 PMID:22889855 PMID:23867111 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26287763 PMID:26467025 PMID:26689913 PMID:27495310 PMID:28024868 PMID:28492532 PMID:28781887 PMID:30209399 PMID:30257991 PMID:30263132 PMID:30458859 PMID:30678073 PMID:30765603 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniopharyngioma
CTD
ClinVar
PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 PMID:26619011 PMID:26822237 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha disease_progression ISO RGD PMID:20190664 RGD:11080971 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:22161988 PMID:25741868 PMID:28492532 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
Culler-Jones syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Culler-Jones syndrome
ClinVar Annotator: match by term: PALLISTER-HALL SYNDROME 2
OMIM
ClinVar
PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:25741868 PMID:31292255 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
Cutaneous Malignant Melanoma, Susceptibility To, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO OMIM NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar
OMIM
PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
diffuse midline glioma, H3 K27M-mutant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674 NCBI chr 3:44,432,476...44,539,680
Ensembl chr 3:44,432,471...44,522,930
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 PMID:19379763 PMID:19442249 PMID:19519404 PMID:20639400 PMID:20980836 PMID:21345144 PMID:22024395 PMID:22287629 PMID:22582397 PMID:23161009 PMID:23276657 PMID:23644138 PMID:23935105 PMID:24448499 PMID:24487782 PMID:24573678 PMID:24728327 PMID:24895130 PMID:25374583 PMID:25583461 PMID:25741868 PMID:26315354 PMID:26596371 PMID:26689913 PMID:26790966 PMID:27107905 PMID:28492532 PMID:28911102 PMID:29922827 PMID:30322717 PMID:31265121 PMID:31341520 PMID:31822495 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23329222 PMID:23415889 PMID:23469205 PMID:24033266 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26332814 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
dysgerminoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:ovary RGD PMID:17988723 RGD:2315651 NCBI chr 7:144,052,202...144,060,678
Ensembl chr 7:144,052,061...144,060,685
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 PMID:21204799 PMID:23479189 PMID:23536787 PMID:24010542 PMID:24312913 PMID:24372583 PMID:24728189 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26822237 PMID:27836010 PMID:28492532 PMID:28993434 PMID:29446198 PMID:29907814 PMID:30078507 PMID:30130155 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with Acrocephalosyndactylia (MeSH:D000168) RGD PMID:17243131 RGD:2289660 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Inha inhibin subunit alpha ISO RGD PMID:11720904 RGD:2290380 NCBI chr 9:82,700,482...82,703,383
Ensembl chr 9:82,700,468...82,703,400
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:10362788 PMID:11276010 PMID:11380399 PMID:11493470 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18955458 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:20147452 PMID:21642685 PMID:21689725 PMID:21690468 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532, PMID:10362788 RGD:2292181 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO RGD PMID:15371950 RGD:2292443 NCBI chr20:3,747,231...3,751,994
Ensembl chr20:3,747,221...3,751,994
JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chr19:58,420,635...58,422,153
Ensembl chr19:58,419,961...58,421,504
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
Ependymomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl7c BAF chromatin remodeling complex subunit BCL7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 1:199,112,192...199,159,125
Ensembl chr 1:199,155,296...199,159,125
JBrowse link
G Ephb2 Eph receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 5:155,024,478...155,143,539
Ensembl chr 5:155,022,493...155,204,456
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:increased expression:cerebellum RGD PMID:18478565 RGD:5509961 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr16:20,435,098...20,439,206
Ensembl chr16:20,435,101...20,439,206
JBrowse link
G Rtbdn retbindin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr19:26,065,784...26,073,194
Ensembl chr19:26,066,127...26,073,194
JBrowse link
G Shc3 SHC adaptor protein 3 ISO DNA:amplification:brain: RGD PMID:19748727 RGD:13782069 NCBI chr17:13,670,520...13,791,043
Ensembl chr17:13,670,520...13,791,043
JBrowse link
G Zfp668 zinc finger protein 668 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 1:199,310,935...199,321,231
Ensembl chr 1:199,310,935...199,320,727
JBrowse link
Experimental Melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss1 acyl-CoA synthetase short-chain family member 1 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr 3:146,420,346...146,470,293
Ensembl chr 3:146,420,346...146,470,293
JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
JBrowse link
G Antxr1 ANTXR cell adhesion molecule 1 treatment ISO RGD PMID:19622764, PMID:19609240 RGD:9684925, RGD:9684939 NCBI chr 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 PMID:29438700 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: therapeutic CTD PMID:16388313 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 treatment ISO RGD PMID:14500387 RGD:7483600 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:24041689 RGD:7411680 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Egr1 early growth response 1 ISO mRNA, protein:increased expression:salivary gland (mouse) RGD PMID:19517020 RGD:5131885 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Esr2 estrogen receptor 2 severity ISO RGD PMID:20354658 RGD:8694122 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:9823327 RGD:8548620 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16417267 NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:19276165 RGD:7495758 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:12230493, PMID:17411412 RGD:8655870, RGD:8655901 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha treatment ISO RGD PMID:8061895 RGD:7794735 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:1966551 RGD:7401226 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:11884028 RGD:8662950 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Kdm1a lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
JBrowse link
G Kdm4c lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G Mc1r melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:19208793 RGD:9589070 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Pxn paxillin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18492274 NCBI chr12:46,797,953...46,845,107
Ensembl chr12:46,797,954...46,845,080
JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
Familial Isolated Pituitary Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas
ClinVar Annotator: match by term: Pituitary adenoma, familial isolated
ClinVar PMID:26186299 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas ClinVar PMID:25741868 NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
JBrowse link
familial medullary thyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma ClinVar NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar PMID:10330344 PMID:10443680 PMID:11139246 PMID:11159935 PMID:11719521 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Prlr prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 2:60,131,410...60,325,686
Ensembl chr 2:60,131,776...60,325,692
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar Annotator: match by term: MEN2A and FMTC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 PMID:7633441 PMID:7647787 PMID:7784092 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849720 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7915165 PMID:7915166 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114940 PMID:8557249 PMID:8570194 PMID:8595427 PMID:8625130 PMID:8675603 PMID:8782503 PMID:8797874 PMID:8807338 PMID:8855832 PMID:8880581 PMID:8909322 PMID:8918855 PMID:9003111 PMID:9090527 PMID:9111992 PMID:9111993 PMID:9146685 PMID:9174404 PMID:9230192 PMID:9242375 PMID:9259198 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9452077 PMID:9467562 PMID:9498388 PMID:9506724 PMID:9620546 PMID:9681850 PMID:9681851 PMID:9681852 PMID:9727738 PMID:9745455 PMID:9760196 PMID:9839497 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10235148 PMID:10323403 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10549772 PMID:10646792 PMID:10679286 PMID:10777380 PMID:10790203 PMID:10876191 PMID:10982477 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11351254 PMID:11436122 PMID:11454140 PMID:11471675 PMID:11524247 PMID:11562352 PMID:11589684 PMID:11739416 PMID:11900218 PMID:11932300 PMID:11935126 PMID:11939755 PMID:12000816 PMID:12116277 PMID:12150334 PMID:12193298 PMID:12205548 PMID:12409662 PMID:12490841 PMID:12566528 PMID:12604374 PMID:12686527 PMID:12694233 PMID:12864791 PMID:14517954 PMID:14561794 PMID:14566559 PMID:14602786 PMID:14633923 PMID:14715928 PMID:14718397 PMID:15164440 PMID:15184865 PMID:15240641 PMID:15277225 PMID:15281979 PMID:15292360 PMID:15452453 PMID:15531714 PMID:15699703 PMID:15741265 PMID:15753368 PMID:15771139 PMID:15855933 PMID:15858153 PMID:15870131 PMID:16118333 PMID:16314641 PMID:16343097 PMID:16388093 PMID:16441254 PMID:16469774 PMID:16507829 PMID:16532227 PMID:16649977 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16715139 PMID:16736292 PMID:16813623 PMID:16849421 PMID:16865646 PMID:16865647 PMID:16868135 PMID:16928683 PMID:17021738 PMID:17047083 PMID:17097365 PMID:17102091 PMID:17108110 PMID:17178962 PMID:17188172 PMID:17209045 PMID:17384210 PMID:17483988 PMID:17540634 PMID:17605401 PMID:17610518 PMID:17704047 PMID:17848262 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:18805915 PMID:19041016 PMID:19138318 PMID:19169500 PMID:19201392 PMID:19240193 PMID:19255327 PMID:19258401 PMID:19469690 PMID:19472011 PMID:19826964 PMID:19906784 PMID:20065189 PMID:20080836 PMID:20087666 PMID:20103606 PMID:20368568 PMID:20442138 PMID:20497437 PMID:20516206 PMID:20554711 PMID:20739875 PMID:20833330 PMID:20847059 PMID:20979234 PMID:20981092 PMID:21253810 PMID:21254918 PMID:21311890 PMID:21422799 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21626080 PMID:21655256 PMID:21678021 PMID:21688339 PMID:21690267 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22068382 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22403753 PMID:22584710 PMID:22676047 PMID:22676344 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22865907 PMID:22965292 PMID:22992277 PMID:22995991 PMID:23056499 PMID:23084198 PMID:23210566 PMID:23295303 PMID:23461807 PMID:23527089 PMID:23660872 PMID:23723040 PMID:23745650 PMID:23756355 PMID:24033266 PMID:24064755 PMID:24152999 PMID:24331334 PMID:24336963 PMID:24361808 PMID:24375508 PMID:24449023 PMID:24569963 PMID:24616773 PMID:24617864 PMID:24684035 PMID:24699901 PMID:24716929 PMID:24728327 PMID:24805091 PMID:24845513 PMID:25157968 PMID:25319874 PMID:25374962 PMID:25425582 PMID:25440022 PMID:25628771 PMID:25629635 PMID:25637381 PMID:25694125 PMID:25741868 PMID:25767701 PMID:25810047 PMID:25887804 PMID:25950813 PMID:26046350 PMID:26084817 PMID:26230854 PMID:26247112 PMID:26269449 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26678667 PMID:26920351 PMID:27153395 PMID:27539324 PMID:27673361 PMID:27807060 PMID:27809725 PMID:27884173 PMID:27994876 PMID:28323957 PMID:28492532 PMID:28647780 PMID:28946813 PMID:28951487 PMID:29026273 PMID:29097883 PMID:29386230 PMID:29408964 PMID:29420094 PMID:29549836 PMID:29625052 PMID:29656518 PMID:29684080 PMID:30392857 PMID:30644554 PMID:30763276 PMID:30877234 PMID:30927507 PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
familial melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Familial melanoma
ClinVar
OMIM
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9311594 PMID:9425228 PMID:9536098 PMID:10398427 PMID:11756559 PMID:11828258 PMID:14621993 PMID:15880589 PMID:16201750 PMID:17576681 PMID:19139070 PMID:19690981 PMID:19888216 PMID:20668451 PMID:21520333 PMID:21801156 PMID:22804906 PMID:22932448 PMID:23384855 PMID:23546221 PMID:23718828 PMID:24162924 PMID:24256466 PMID:24321989 PMID:24728327 PMID:24755471 PMID:25157968 PMID:25186627 PMID:25318351 PMID:25416956 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:26534844 PMID:26580448 PMID:26619011 PMID:26800492 PMID:26976419 PMID:27640074 PMID:27978560 PMID:27997549 PMID:28060055 PMID:28135145 PMID:28166811 PMID:28380455 PMID:28492532 PMID:28726808 PMID:29774366 PMID:29917049 PMID:30093976 PMID:31159747 NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:2319082 PMID:2677576 PMID:7566978 PMID:7569991 PMID:7614482 PMID:7624155 PMID:7632931 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7670475 PMID:7718873 PMID:7777061 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7882348 PMID:7923152 PMID:7970734 PMID:7972006 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8023167 PMID:8060323 PMID:8153634 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8561866 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8595411 PMID:8603820 PMID:8631588 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8834170 PMID:8841025 PMID:8910511 PMID:9049826 PMID:9053859 PMID:9132280 PMID:9133447 PMID:9166859 PMID:9168184 PMID:9185756 PMID:9212218 PMID:9324288 PMID:9328469 PMID:9366518 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9473234 PMID:9516223 PMID:9536098 PMID:9603434 PMID:9622062 PMID:9660926 PMID:9699728 PMID:9710613 PMID:9751050 PMID:9782052 PMID:9808520 PMID:9823374 PMID:9856796 PMID:9856841 PMID:9916806 PMID:9935245 PMID:10070944 PMID:10229204 PMID:10338331 PMID:10360174 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10400925 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10854221 PMID:10861313 PMID:10869234 PMID:10871849 PMID:10874641 PMID:10892805 PMID:10922411 PMID:10951521 PMID:10956390 PMID:11008905 PMID:11075991 PMID:11078762 PMID:11113205 PMID:11136714 PMID:11156381 PMID:11319798 PMID:11358797 PMID:11360201 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11511321 PMID:11518711 PMID:11556834 PMID:11571653 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11726555 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12019208 PMID:12072543 PMID:12175554 PMID:12352668 PMID:12417040 PMID:12417717 PMID:12454511 PMID:12461329 PMID:12485439 PMID:12517341 PMID:12532425 PMID:12538475 PMID:12549483 PMID:12556369 PMID:12606942 PMID:12614625 PMID:12673200 PMID:12700603 PMID:12853981 PMID:12894891 PMID:12950144 PMID:14506702 PMID:14508519 PMID:14584079 PMID:14679123 PMID:14722037 PMID:14735200 PMID:14745721 PMID:15009729 PMID:15075790 PMID:15122588 PMID:15140233 PMID:15140239 PMID:15146471 PMID:15150307 PMID:15173226 PMID:15235029 PMID:15298727 PMID:15304098 PMID:15705881 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15937071 PMID:15945100 PMID:16032697 PMID:16169933 PMID:16199547 PMID:16214921 PMID:16234564 PMID:16307646 PMID:16354195 PMID:16374456 PMID:16397522 PMID:16614725 PMID:16818274 PMID:16893909 PMID:16896043 PMID:16905682 PMID:17001621 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17255954 PMID:17276542 PMID:17370310 PMID:17397031 PMID:17440112 PMID:17492760 PMID:17576681 PMID:17624602 PMID:17713569 PMID:17890059 PMID:17909018 PMID:17992122 PMID:18023021 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18573309 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18951449 PMID:18981015 PMID:18983535 PMID:19043591 PMID:19141585 PMID:19158841 PMID:19260062 PMID:19260067 PMID:19320745 PMID:19331830 PMID:19360740 PMID:19484507 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19690981 PMID:19712690 PMID:19759551 PMID:19799798 PMID:20093296 PMID:20132244 PMID:20340136 PMID:20340316 PMID:20505745 PMID:20522552 PMID:20526219 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21503581 PMID:21507037 PMID:21609436 PMID:21614589 PMID:21619050 PMID:21801156 PMID:21893440 PMID:22292911 PMID:22368299 PMID:22440936 PMID:22447455 PMID:22561520 PMID:22636603 PMID:22703879 PMID:22804906 PMID:22841127 PMID:22911296 PMID:22995991 PMID:23190892 PMID:23371019 PMID:23613284 PMID:23757202 PMID:23897584 PMID:24033266 PMID:24185512 PMID:24336570 PMID:24436120 PMID:24569790 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25064638 PMID:25078331 PMID:25149524 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25294512 PMID:25318351 PMID:25356972 PMID:25370744 PMID:25372287 PMID:25479140 PMID:25503501 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25846456 PMID:25877891 PMID:25980754 PMID:26104880 PMID:26206375 PMID:26225579 PMID:26295973 PMID:26381259 PMID:26467025 PMID:26474073 PMID:26483394 PMID:26498684 PMID:26542317 PMID:26581427 PMID:26601054 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26800492 PMID:26845104 PMID:26876133 PMID:26892650 PMID:26907448 PMID:26976419 PMID:27045317 PMID:27077911 PMID:27083775 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27473757 PMID:27519597 PMID:27568332 PMID:27621404 PMID:27626068 PMID:27701467 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27978560 PMID:28060055 PMID:28135145 PMID:28146043 PMID:28166811 PMID:28188106 PMID:28410231 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28521409 PMID:28592523 PMID:28599463 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28767289 PMID:28830827 PMID:28830923 PMID:28866070 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29036293 PMID:29091774 PMID:29263814 PMID:29360161 PMID:29464027 PMID:29506128 PMID:29533785 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29661971 PMID:29758216 PMID:29774366 PMID:29922827 PMID:29983899 PMID:30038052 PMID:30086788 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30709382 PMID:30742731 PMID:30967399 PMID:31001908 PMID:31382929 PMID:31775759 PMID:31921681 PMID:32113160 PMID:33322357 PMID:109563903 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:15146471 PMID:16905682 PMID:28492532 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 ClinVar PMID:11059748 NCBI chr 6:136,330,151...136,373,716
Ensembl chr 6:136,330,383...136,373,721
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
OMIM
ClinVar
PMID:7581459 PMID:8894704 PMID:8944016 PMID:8990005 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 PMID:10403794 PMID:10631149 PMID:10733465 PMID:10816645 PMID:11030758 PMID:11254446 PMID:11487574 PMID:11511307 PMID:11707265 PMID:11933208 PMID:12687585 PMID:12839583 PMID:12851329 PMID:12876664 PMID:14757863 PMID:14961558 PMID:14975928 PMID:15221796 PMID:15957185 PMID:15979202 PMID:15994880 PMID:15998953 PMID:16172233 PMID:16280005 PMID:16309897 PMID:16463023 PMID:16567973 PMID:16595073 PMID:16601669 PMID:16645598 PMID:16809487 PMID:16982779 PMID:16988943 PMID:17072629 PMID:17279550 PMID:17316231 PMID:17434924 PMID:17496785 PMID:17616515 PMID:17952075 PMID:18067130 PMID:18366057 PMID:18402696 PMID:18795926 PMID:18803811 PMID:18839200 PMID:18983535 PMID:19194882 PMID:19269164 PMID:19320745 PMID:19338054 PMID:19493000 PMID:19585506 PMID:19656326 PMID:19710684 PMID:19799798 PMID:19924138 PMID:20043015 PMID:20158590 PMID:20457063 PMID:20629734 PMID:20876876 PMID:21128237 PMID:21672182 PMID:21749400 PMID:22079958 PMID:22095472 PMID:22095742 PMID:22493355 PMID:22547573 PMID:22854540 PMID:22978401 PMID:23312576 PMID:23360207 PMID:23384855 PMID:23522749 PMID:23647022 PMID:23711066 PMID:24033266 PMID:24045876 PMID:24238329 PMID:24335900 PMID:24439955 PMID:24617981 PMID:24982914 PMID:25268584 PMID:25284244 PMID:25631192 PMID:25736238 PMID:25741868 PMID:25794181 PMID:26103569 PMID:26197705 PMID:26389967 PMID:26546047 PMID:26800492 PMID:27084066 PMID:27229376 PMID:27473757 PMID:28166811 PMID:28242083 PMID:28492532 PMID:29340229 PMID:31382929 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Mitf melanocyte inducing transcription factor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
CTD
ClinVar
OMIM
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24660985 PMID:24767713 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25975176 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26999813 PMID:27473757 PMID:27680874 PMID:28125078 PMID:28376192 PMID:28492532 PMID:29706638 PMID:30414346 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Pot1 protection of telomeres 1 susceptibility ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23502782 PMID:24686846 PMID:24686849 PMID:25244922 PMID:25482530 PMID:25741868 PMID:25877891 PMID:26365187 PMID:26403419 PMID:27239034 PMID:27329137 PMID:27528712 PMID:27869160 PMID:28166811 PMID:28393830 PMID:28393832 PMID:28492532 PMID:28853721 PMID:29036293 PMID:29522175 PMID:29523635 PMID:29693246 PMID:30451293 PMID:30523342 PMID:31919090 PMID:33119245 NCBI chr 4:51,888,632...51,946,764
Ensembl chr 4:51,888,634...51,946,715
JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr19:56,136,904...56,175,500
Ensembl chr19:56,136,904...56,175,500
JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr19:56,178,905...56,213,299
Ensembl chr19:56,179,111...56,213,310
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 ClinVar
OMIM
PMID:23348503 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar PMID:20668451 PMID:21520333 PMID:23718828 PMID:24728327 PMID:24755471 PMID:25318351 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:27997549 PMID:28166811 PMID:28492532 PMID:29917049 PMID:30093976 PMID:31159747 NCBI chr 7:70,352,679...70,355,555
Ensembl chr 7:70,352,251...70,355,619
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by OMIM:613972 ClinVar
OMIM
PMID:11059748 NCBI chr 6:136,366,917...136,380,751
Ensembl chr 6:136,371,555...136,379,348
JBrowse link
familial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mn1 MN1 proto-oncogene, transcriptional regulator susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
JBrowse link
G Nf2 neurofibromin 2 susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:20553997 PMID:25741868 PMID:28492532 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Pdgfb platelet derived growth factor subunit B susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pten phosphatase and tensin homolog susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9399897 PMID:9425889 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11939587 PMID:14518070 PMID:14566704 PMID:16014636 PMID:16199547 PMID:16773562 PMID:17392703 PMID:17526801 PMID:17898811 PMID:17942903 PMID:20600018 PMID:21194675 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24375884 PMID:24778394 PMID:25022750 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25525159 PMID:25669429 PMID:25741868 PMID:25756585 PMID:25875300 PMID:26468640 PMID:27477328 PMID:27531073 PMID:27959697 PMID:28492532 PMID:28526761 PMID:28677221 PMID:30287823 PMID:30311380 PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by OMIM:607174
ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling susceptibility ISO ClinVar Annotator: match by OMIM:607174
ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:22958902 PMID:25741868 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
familial retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO DNA:mutations:promoter, intron, exon:multiple RGD PMID:17096365 RGD:8547984 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
fibrillary astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:25348012 PMID:25741868 PMID:25971625 PMID:26295337 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21309039 PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1r insulin-like growth factor 1 receptor ISO mRNA and protein: increased expression::poor prognosis for high expression RGD PMID:15867218 RGD:7242847 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Men1 menin 1 ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD PMID:17961653, PMID:15944766 RGD:2317354 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) RGD PMID:12114431 RGD:2317605 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:12114701, PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
Gastro-Enteropancreatic Neuroendocrine Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler severity ISO RGD PMID:26026117 RGD:127285385 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Cd53 Cd53 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 2:209,489,279...209,537,098
Ensembl chr 2:209,489,279...209,537,087
JBrowse link
G Cd86 CD86 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Daxx death-domain associated protein severity ISO RGD PMID:26026117 RGD:127285385 NCBI chr20:5,480,103...5,485,962
Ensembl chr20:5,480,103...5,485,926
JBrowse link
G Eomes eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 8:127,144,367...127,152,618
Ensembl chr 8:127,144,903...127,151,493
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr10:86,420,757...86,509,454
Ensembl chr10:86,421,582...86,509,454
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:81,966,791...82,049,116
Ensembl chr 1:81,964,104...82,004,538
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
germinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutation:exon:p.V600E (human) RGD PMID:19289622 RGD:2315865 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:17167184 RGD:2296039 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO DNA:transition:exon:142G>A RGD PMID:9554401 RGD:2289698 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 ISO DNA:transition:exon:142G>A RGD PMID:9554401 RGD:2289698
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 ISO DNA:transition:exon:142G>A RGD PMID:9554401 RGD:2289698
G Mgp matrix Gla protein ISO RGD PMID:1399132 RGD:2293578 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Germinoma ClinVar PMID:25741868 NCBI chr 5:60,007,587...60,191,973
Ensembl chr 5:60,007,587...60,191,941
JBrowse link
G Pdpn podoplanin ISO RGD PMID:16718353 RGD:2292236 NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Germinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
glioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr3 actin related protein 3 ISO mRNA:increased expression:brain (human) RGD PMID:25682201 RGD:11570557 NCBI chr13:41,695,520...41,738,622
Ensembl chr13:41,695,183...41,738,658
JBrowse link
G Adgrb1 adhesion G protein-coupled receptor B1 treatment ISO mRNA:decreased expression:brain: RGD PMID:16244591, PMID:12507886 RGD:13831352, RGD:13831355 NCBI chr 7:115,766,484...115,828,514 JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 treatment
severity
ISO
IEP
RGD PMID:27416955, PMID:23096411, PMID:23096411 RGD:13838664, RGD:13838665, RGD:13838665 NCBI chr 2:256,609,787...256,724,642
Ensembl chr 2:256,609,787...256,724,641
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO RGD PMID:10802656 RGD:734543 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Akt3 AKT serine/threonine kinase 3 disease_progression ISO RGD PMID:27422127 RGD:13674164 NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Aspm assembly factor for spindle microtubules ISO mRNA:increased expression:brain: RGD PMID:18636190 RGD:13439742 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 PMID:26467025 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression ISO ClinVar Annotator: match by term: Glioblastoma multiforme, somatic ClinVar PMID:27478330 RGD:13442489 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Bag3 BAG cochaperone 3 treatment IMP RGD PMID:21561597 RGD:5687132 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:20863706 RGD:6483102 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 4:140,703,619...140,709,319
Ensembl chr 4:140,703,619...140,709,319
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:19823589 NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18039235 PMID:18398503 PMID:18413255 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27388964 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26455392 PMID:27388964 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Brd7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr19:19,672,780...19,701,484
Ensembl chr19:19,672,856...19,701,484
JBrowse link
G Cbx6 chromobox 6 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 7:121,047,996...121,058,109
Ensembl chr 7:121,050,302...121,058,029
JBrowse link
G Cbx7 chromobox 7 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
JBrowse link
G Cbx8 chromobox 8 ISO mRNA:increased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr10:108,148,073...108,150,511
Ensembl chr10:108,148,073...108,150,511
JBrowse link
G Ccnh cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Cd9 CD9 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26573230 NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Cdk6 cyclin-dependent kinase 6 severity ISO CTD Direct Evidence: marker/mechanism CTD PMID:20534551, PMID:10884881 RGD:13702095 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO RGD PMID:10720483 RGD:8552659 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 treatment ISO RGD PMID:10720483 RGD:8552659
G Chaf1b chromatin assembly factor 1 subunit B ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr11:34,101,248...34,121,371
Ensembl chr11:34,101,197...34,121,378
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO mRNA:increased expression:brain, tumor (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:21029458, PMID:11161003 RGD:4892621 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 disease_progression IMP RGD PMID:23360795 RGD:9685152 NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Csta cystatin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr11:67,555,792...67,566,980
Ensembl chr11:67,555,658...67,566,972
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Ctnnd2 catenin delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr 2:83,227,247...84,094,315
Ensembl chr 2:83,393,282...84,094,315
JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:glioma cell (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22287159, PMID:17898873 RGD:2315515 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:brain RGD PMID:8640738 RGD:1549417 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:25356585 NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
JBrowse link
G Deup1 deuterosome assembly protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 8:14,094,742...14,157,232
Ensembl chr 8:14,094,732...14,157,141
JBrowse link
G Dmbt1 deleted in malignant brain tumors 1 ISO DNA:deletion RGD PMID:9288095 RGD:1599778 NCBI chr 1:201,620,642...201,689,905
NCBI chr 1:203,149,414...203,228,705
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Glioblastoma ClinVar NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dusp6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499306 NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
JBrowse link
G E2f1 E2F transcription factor 1 disease_progression ISO RGD PMID:16264179 RGD:13702471 NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
JBrowse link
G Egf epidermal growth factor susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:+61A>G(human)
CTD PMID:16598420, PMID:22481252 RGD:13702472 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
CTD
ClinVar
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 PMID:15738541 PMID:16011858 PMID:16115929 PMID:17177598 PMID:18199554 PMID:18458038 PMID:19204207 PMID:19536777 PMID:19671738 PMID:19922469 PMID:20479403 PMID:21531810 PMID:21841502 PMID:22753918 PMID:23102728 PMID:23242437 PMID:23917401 PMID:23945392 PMID:24033266 PMID:25157968 PMID:26455392 PMID:26619011 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO protein:increased expression:brain (human) RGD PMID:21195542 RGD:13204719 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit treatment ISO RGD PMID:25595591 RGD:14928319 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Fabp7 fatty acid binding protein 7 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:15827123 RGD:1578468 NCBI chr20:40,769,624...40,773,156
Ensembl chr20:40,769,586...40,773,349
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354438 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25705862 PMID:26619011 PMID:26942290 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand treatment ISO RGD PMID:18079358 RGD:11049502 NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17099729 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 6:25,598,936...25,616,995
Ensembl chr 6:25,598,936...25,616,995
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16874663 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G H2ax H2A.X variant histone ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
JBrowse link
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
CTD
ClinVar
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237 NCBI chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
JBrowse link
G Heatr1 HEAT repeat containing 1 ISO mRNA, protein:increased expression:brain RGD PMID:25126583 RGD:10761721 NCBI chr17:66,446,135...66,488,303
Ensembl chr17:66,446,162...66,619,250
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hras HRas proto-oncogene, GTPase severity ISO DNA:missense mutation:cds:p.G61L(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759, PMID:20879984, PMID:19179066 RGD:13702475, RGD:13702872 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 disease_progression
onset
ISO DNA:mutation:cds:p.R132(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
DNA:mutation:cds:p.R132H(human)
ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330, PMID:25495392, PMID:19765000 RGD:11074562, RGD:11522732 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Il16 interleukin 16 IEP protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7719933 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 6:137,711,144...137,733,331
Ensembl chr 6:137,711,155...137,733,026
JBrowse link
G Kcnc2 potassium voltage-gated channel subfamily C member 2 ISO mRNA:splice variant (human) RGD PMID:18474104 RGD:9686067 NCBI chr 7:54,978,453...55,159,362
Ensembl chr 7:54,980,120...55,159,351
JBrowse link
G Kdr kinase insert domain receptor treatment ISO RGD PMID:26325365 RGD:11529678 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kras KRAS proto-oncogene, GTPase treatment ISO mRNA:decreased expression:brain RGD PMID:16166301, PMID:19179066 RGD:13702861, RGD:13702872 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G L1cam L1 cell adhesion molecule ISO mRNA:decreased expression:brain, temporal lobe (human) RGD PMID:20419098 RGD:6483067 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr10:82,352,390...82,367,047
Ensembl chr10:82,352,390...82,367,047
JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270107 NCBI chr 1:84,118,046...84,152,095
Ensembl chr 1:84,118,046...84,150,084
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Macir macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:111,327,333...111,347,428
Ensembl chr 9:111,327,402...111,347,430
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment ISO RGD PMID:24905460 RGD:11561946 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 treatment ISO RGD PMID:26189368 RGD:13702862 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 disease_progression ISO protein:increased expression, increased phosphorylation:brain RGD PMID:17406030 RGD:1641940 NCBI chr10:45,089,455...45,110,802
Ensembl chr10:47,182,433...47,203,753
Ensembl chr10:47,182,433...47,203,753
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mdm4 MDM4 regulator of p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472715 NCBI chr13:49,786,776...49,828,780
Ensembl chr13:49,792,794...49,828,720
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26822237 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22162573 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:transition:cds:p.L84F (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20131314 PMID:22162573, PMID:14669534 RGD:2317667 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir21 microRNA 21 ameliorates IMP RGD PMID:31730913 RGD:41404645 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16598420, PMID:7616276 RGD:7207145 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp7 matrix metallopeptidase 7 severity ISO protein:increased expression:brain (human) RGD PMID:7616276 RGD:7207145 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity
treatment
ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16598420, PMID:7616276, PMID:12439751 RGD:7207145, RGD:8547973 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25741868 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Glioblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 PMID:30705370 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17312396 NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
JBrowse link
G Ndrg4 NDRG family member 4 ISO mRNA, protein:decreased expression:brain RGD PMID:22489821 RGD:7247726 NCBI chr19:9,766,439...9,802,396
Ensembl chr19:9,766,439...9,801,942
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nfkbia NFKB inhibitor alpha treatment ISO human cell line in a mouse model RGD PMID:15692608 RGD:127285387 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Glioblastoma
DNA:amplication::
DNA:mutation:cds:c.35G>A, p.G12D(human)
ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248, PMID:11351043, PMID:15517309 RGD:13702876, RGD:13702875 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21210235 RGD:6482799 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment ISO RGD PMID:24566984 RGD:13702903 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pdpn podoplanin ISO RGD PMID:16979138 RGD:2292241 NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21858729 RGD:6771207 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Pgf placental growth factor disease_progression ISO RGD PMID:20458050 RGD:6483585 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:30543347 PMID:31568861 PMID:31775759 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta disease_progression ISO RGD PMID:26956052, PMID:21188471 RGD:11343921, RGD:13782050 NCBI chr 8:107,275,849...107,381,088
Ensembl chr 8:107,275,725...107,380,933
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta disease_progression ISO RGD PMID:24523440 RGD:13782051 NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23724780 NCBI chr20:8,165,423...8,169,557
Ensembl chr20:8,165,307...8,169,555
JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:23440206 NCBI chr 8:63,002,515...63,034,310
Ensembl chr 8:63,004,870...63,034,226
JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25228659 PMID:26619011 PMID:29352080 NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
JBrowse link
G Polk DNA polymerase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 2:27,305,718...27,364,906
Ensembl chr 2:27,305,728...27,364,906
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: Glioblastoma, somatic ClinVar PMID:9467001 PMID:10523018 PMID:10851250 PMID:14671186 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946270 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Prom1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679414 PMID:18829568 PMID:19718438 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:9915974 PMID:10400993 PMID:10555148 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11504908 PMID:11875759 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16773562 PMID:16952599 PMID:17526800 PMID:17526801 PMID:17873882 PMID:17942903 PMID:18558293 PMID:18725974 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20300775 PMID:20453058 PMID:20619739 PMID:20881644 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22479427 PMID:22491738 PMID:22595938 PMID:23335809 PMID:23349303 PMID:23399955 PMID:23470840 PMID:23475934 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26773036 PMID:26798346 PMID:27426521 PMID:27477328 PMID:27535533 PMID:28286253 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29359449 PMID:29706350, PMID:16847462 RGD:2290476 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO
IEP
protein:increased expression:microglia, macrophage, RGD PMID:11121536, PMID:10229132 RGD:5688245, RGD:5688250 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO
IEP
protein:increased expression:endothelial cell RGD PMID:11121536, PMID:10229132 RGD:5688245, RGD:5688250 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
JBrowse link
G Rb1 RB transcriptional corepressor 1 severity ISO DNA:hypermethylation:promoter: RGD PMID:11204276 RGD:13782067 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO CTD Direct Evidence: therapeutic CTD PMID:20127710 NCBI chr 5:59,348,568...59,415,169
Ensembl chr 5:59,348,639...59,415,135
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 PMID:26467025 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
G Rpl35a ribosomal protein L35a ISO mRNA:increased expression:brain (human) RGD PMID:10880769 RGD:11535077 NCBI chr11:70,963,223...70,967,146
Ensembl chr12:7,186,473...7,186,873
Ensembl chr 5:7,186,473...7,186,873
Ensembl chr 1:7,186,473...7,186,873
Ensembl chr 6:7,186,473...7,186,873
Ensembl chr12:7,186,473...7,186,873
JBrowse link
G Rpl5 ribosomal protein L5 ISO DNA:mutations:multiple (human) RGD PMID:26892688 RGD:11535147 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Septin14 septin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr12:30,600,162...30,623,173
Ensembl chr12:30,600,957...30,621,079
JBrowse link
G Serping1 serpin family G member 1 treatment IMP RGD PMID:28880870 RGD:13525003 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Slc22a22 solute carrier family 22 (organic cation transporter), member 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 7:97,042,176...97,071,984
Ensembl chr 7:97,040,507...97,071,968
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Glioblastoma multiforme ClinVar PMID:25741868 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
JBrowse link
G Srrt serrate, RNA effector molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30542699 NCBI chr12:22,457,898...22,471,090 JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
JBrowse link
G Tes testin LIM domain protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 4:44,321,883...44,360,407
Ensembl chr 4:44,321,883...44,360,405
JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16170020 PMID:17099729 NCBI chr 3:154,597,165...154,627,257
Ensembl chr 3:154,597,168...154,627,257
JBrowse link
G Tmem135 transmembrane protein 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:152,886,496...153,096,225
Ensembl chr 1:152,886,996...153,096,269
JBrowse link
G Tnc tenascin C ISO RGD PMID:16928692 RGD:4889612 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:21877938 NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
JBrowse link
G Tp53 tumor protein p53 ISO
ISS
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar
MouseDO
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2826609 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7783166 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9047394 PMID:9049183 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12406399 PMID:12509279 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14584079 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15977174 PMID:15982667 PMID:16209708 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18208484 PMID:18307025 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18818522 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19127115 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19881536 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21059199 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22672556 PMID:22698404 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22844452 PMID:22866089 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23315175 PMID:23406775 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24766216 PMID:24810334 PMID:24835218 PMID:25119136 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25326637 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30297838 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30630526 PMID:30675318 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31206626 PMID:31775759 PMID:32000721 PMID:32295079 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 3:113,160,030...113,259,701
Ensembl chr 3:113,160,000...113,231,790
JBrowse link
G Trmt11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:29,432,109...29,576,079
Ensembl chr 1:29,432,152...29,487,473
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20820871 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25875864 NCBI chr 7:11,429,266...11,446,119
Ensembl chr 7:11,432,049...11,444,786
JBrowse link
glioblastoma proneural subtype term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO RNA:decreased expression:brain: RGD PMID:22157621 RGD:13782062 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
gliosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 severity ISO mouse gene in a rat model RGD PMID:7489565 RGD:11526112 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 PMID:11389073 NCBI chr 1:83,163,103...83,236,615
Ensembl chr 1:83,163,079...83,236,615
JBrowse link
G Cyp2c24 cytochrome P450, family 2, subfamily c, polypeptide 24 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr 1:258,074,797...258,139,176
Ensembl chr 1:258,074,860...258,139,176
JBrowse link
G Plau plasminogen activator, urokinase severity ISO mouse gene in rat model RGD PMID:20606645 RGD:7241591 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP protein:increased expression:microglia, macrophage, RGD PMID:10229132 RGD:5688250 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:endothelial cell RGD PMID:10229132 RGD:5688250 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16533777 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Glucagonoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btc betacellulin ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484
JBrowse link
G Men1 menin 1 ISO DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
CTD PMID:17961653, PMID:20138042 RGD:2317288 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:12114701, PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Sstr4 somatostatin receptor 4 ISO RGD PMID:8132773 RGD:2324994 NCBI chr 3:142,739,781...142,741,644
Ensembl chr 3:142,739,781...142,741,644
JBrowse link
growth hormone secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2200621 PMID:5320367 PMID:12213383 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17299063 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17609395 PMID:18381572 PMID:18484068 PMID:19366855 PMID:19474519 PMID:19556287 PMID:19955762 PMID:20354355 PMID:20457215 PMID:20506337 PMID:20507346 PMID:20530095 PMID:20570174 PMID:20595802 PMID:20685857 PMID:21208107 PMID:21340166 PMID:21348957 PMID:21454441 PMID:21512261 PMID:21753072 PMID:21984905 PMID:22287093 PMID:22319033 PMID:22720333 PMID:22915287 PMID:23038625 PMID:23038925 PMID:23300914 PMID:23321498 PMID:23371967 PMID:23633209 PMID:23743763 PMID:24033266 PMID:24050928 PMID:24423289 PMID:25019383 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25350067 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:27033541 PMID:27153395 PMID:27253664 PMID:27267386 PMID:27650164 PMID:28166811 PMID:28220018 PMID:28255869 PMID:28427099 PMID:28492532 PMID:28634279 PMID:29074612 PMID:29308445 PMID:29632148 PMID:29729370 PMID:30262796 PMID:30461320 PMID:30941100 PMID:32324286 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:pituitary gland: RGD PMID:18981426 RGD:8662821 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 PMID:2042694 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:140,296,220...140,303,743
Ensembl chr  X:140,299,770...140,303,686
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
JBrowse link
G Men1 menin 1 ISS
ISO
OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma
MouseDO
ClinVar
PMID:30630164 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2042694 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
growth hormone secreting pituitary adenoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 OMIM
ClinVar
PMID:25470569 PMID:25806919 PMID:25806920 PMID:25806921 PMID:26792934 PMID:26815903 PMID:27245663 PMID:27498687 PMID:28492532 PMID:29389097 NCBI chr  X:140,296,220...140,303,743
Ensembl chr  X:140,299,770...140,303,686
JBrowse link
high grade glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IDA RGD PMID:16574265 RGD:1598564 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Acvr1 activin A receptor type 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 PMID:24705250 PMID:24705251 PMID:24705252 PMID:24705254 PMID:25326637 PMID:25741868 PMID:26619011 PMID:31779674 NCBI chr 3:44,432,476...44,539,680
Ensembl chr 3:44,432,471...44,522,930
JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr16:69,094,587...69,133,015
Ensembl chr16:69,095,936...69,132,584
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO
IDA
protein:increased expression:cytoplasm (human) RGD PMID:19330838, PMID:19330838 RGD:2313297, RGD:2313297 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:brain (rat) RGD PMID:18615861 RGD:2314189 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Apod apolipoprotein D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr11:72,705,204...72,726,263
Ensembl chr11:72,705,129...72,726,301
JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase disease_progression ISO RGD PMID:27852048 RGD:13702476 NCBI chr  X:1,369,534...1,391,603
Ensembl chr  X:1,379,194...1,390,873
JBrowse link
G Areg amphiregulin IMP RGD PMID:8621257 RGD:2292668 NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 8:33,131,874...33,392,198
Ensembl chr 8:33,239,139...33,392,305
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:221,504,150...221,516,191
Ensembl chr 1:221,504,170...221,516,110
JBrowse link
G Aspm assembly factor for spindle microtubules disease_progression ISO mRNA:increased expression:brain: RGD PMID:20142996 RGD:13442488 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:221,612,584...221,632,291
Ensembl chr 1:221,612,584...221,632,267
JBrowse link
G Atg7 autophagy related 7 treatment IDA RGD PMID:25542083 RGD:11557994 NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant glioma ClinVar PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:16199547 PMID:21445571 PMID:21459046 PMID:21792198 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 PMID:30549301 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr10:56,205,622...56,211,879
Ensembl chr10:56,205,625...56,211,891
JBrowse link
G Atrx ATRX, chromatin remodeler ISO DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
CTD PMID:23583981 PMID:24705251, PMID:23104868 RGD:11040587 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Bad BCL2-associated agonist of cell death IEP
ISO
protein:increased phosphorylation:brain
ClinVar Annotator: match by term: Brainstem glioma
ClinVar PMID:16944316 RGD:2292675 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:54,766,441...54,843,795
Ensembl chr19:54,766,589...54,840,569
JBrowse link
G Barhl1 BarH-like homeobox 1 ISO protein:increased expression:brain: RGD PMID:28956815 RGD:14390165 NCBI chr 3:7,491,234...7,498,555
Ensembl chr 3:7,491,234...7,498,555
JBrowse link
G Batf2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:221,538,006...221,546,650
Ensembl chr 1:221,538,104...221,545,782
JBrowse link
G Bcan brevican severity IEP
ISO
IDA
protein:increased expression:brain: RGD PMID:12799382, PMID:23253190, PMID:16061654, PMID:11585735 RGD:14392782, RGD:14392804, RGD:14392797, RGD:14392783 NCBI chr 2:187,359,674...187,373,133
Ensembl chr 2:187,359,677...187,372,657
JBrowse link
G Bdkrb2 bradykinin receptor B2 IEP mRNA:increased expression:brain RGD PMID:20080302 RGD:4891047 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 IEP protein:increased expression:brain RGD PMID:17701349 RGD:2293131 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:23383216 NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23583981 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Glioma susceptibility 3 OMIM
ClinVar
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:12373604 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16683254 PMID:16825431 PMID:16912212 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19654294 PMID:19863560 PMID:19949876 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24504028 PMID:24728189 PMID:24830819 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26064523 PMID:26187060 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:28008555 PMID:28039656 PMID:28294317 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29446198 PMID:29478780 PMID:29492181 PMID:29753700 PMID:29907814 PMID:29909963 PMID:30274973 PMID:30287823 PMID:30350268 PMID:32295079 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brd7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr19:19,672,780...19,701,484
Ensembl chr19:19,672,856...19,701,484
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:21678475 RGD:7401275 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha disease_progression ISO RGD PMID:29393370 RGD:13702478 NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869
JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta disease_progression ISO RGD PMID:15750623 RGD:13702479 NCBI chr14:86,208,876...86,297,727
Ensembl chr14:86,208,901...86,297,652
JBrowse link
G Camkk2 calcium/calmodulin-dependent protein kinase kinase 2 disease_progression ISO RGD PMID:27012733 RGD:13674178 NCBI chr12:39,253,409...39,302,601
Ensembl chr12:39,253,409...39,302,601
JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21138464 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Catsperz catsper channel auxiliary subunit zeta ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:222,179,451...222,182,716
Ensembl chr 1:222,179,436...222,182,721
JBrowse link
G Cav1 caveolin 1 IEP RGD PMID:22528460 RGD:6784517 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cav2 caveolin 2 IEP RGD PMID:22528460 RGD:6784517 NCBI chr 4:44,573,264...44,580,640
Ensembl chr 4:44,573,264...44,580,638
JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:222,102,436...222,118,485
Ensembl chr 1:222,102,437...222,118,459
JBrowse link
G Ccnd1 cyclin D1 susceptibility
disease_progression
ISO RGD PMID:22304571, PMID:21844184, PMID:21844184 RGD:13681930, RGD:13702091, RGD:13702091 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17522861 NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:24878890 RGD:11352275 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd80 Cd80 molecule IDA RGD PMID:10078962 RGD:727266 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:221,673,334...221,693,518
Ensembl chr 1:221,673,590...221,693,518
JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:221,272,349...221,281,252
Ensembl chr 1:221,272,353...221,281,180
JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:221,448,661...221,462,235
Ensembl chr 1:221,448,661...221,462,233
JBrowse link
G Cdk4 cyclin-dependent kinase 4 disease_progression ISO RGD PMID:23761023, PMID:21844184 RGD:13702090, RGD:13702091 NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Cdk6 cyclin-dependent kinase 6 severity ISO DNA:amplification: RGD PMID:22736304, PMID:9102208 RGD:13702093, RGD:13702094 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398