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: | musculoskeletal system cancer |
|
Accession: | DOID:0060100
|
browse the term
|
Definition: | An organ system cancer located_in the muscular and/or skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. |
Synonyms: | exact_synonym: | skeletal system cancer |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
|
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
|
|
|
G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma |
ClinVar |
PMID:11257105 PMID:16454848 PMID:18199528 PMID:21859464 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26580448 PMID:27535533 PMID:28492532 PMID:28503720 |
|
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
|
|
G |
Foxo1 |
forkhead box O1 |
|
ISO |
|
OMIM |
|
|
NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
|
|
G |
Pax3 |
paired box 3 |
|
ISO |
DNA:translocations: (human) ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma |
ClinVar OMIM |
PMID:24033266 PMID:25741868, PMID:15313887 |
RGD:1580944 |
NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
|
|
G |
Pax7 |
paired box 7 |
|
ISO |
ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 |
OMIM ClinVar |
PMID:25741868 PMID:31092906 PMID:32214227 |
|
NCBI chr 5:158,211,001...158,313,510
Ensembl chr 5:158,214,616...158,313,426
|
|
G |
Tp73 |
tumor protein p73 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21245298 |
|
NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
|
|
G |
Wwtr1 |
WW domain containing transcription regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31494105 |
|
NCBI chr 2:147,577,149...147,693,033
Ensembl chr 2:147,577,089...147,693,082
|
|
|
G |
Aspscr1 |
ASPSCR1 tether for SLC2A4, UBX domain containing |
|
ISO |
|
OMIM |
|
|
NCBI chr10:109,851,407...109,889,339
Ensembl chr10:109,851,854...109,888,623
|
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
|
G |
Ogg1 |
8-oxoguanine DNA glycosylase |
no_association |
ISO |
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) |
RGD |
PMID:19265534, PMID:17932460, PMID:17932460 |
RGD:8657154, RGD:8657155, RGD:8657155 |
NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
protein:increased expression:kidney (human) |
RGD |
PMID:22737271 |
RGD:12802360 |
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
|
|
G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
|
|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:increased tyrosine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
|
|
G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney |
RGD |
PMID:19265534 |
RGD:8657154 |
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
|
|
|
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
|
|
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
|
|
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
|
|
|
G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 |
|
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
|
|
G |
Chek2 |
checkpoint kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14612911 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15810020 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16835864 PMID:16880452 PMID:16914568 PMID:16982735 PMID:17085682 PMID:17721994 PMID:18085035 PMID:18172190 PMID:18571837 PMID:18706089 PMID:19030985 PMID:19338683 PMID:19782031 PMID:19805189 PMID:21059199 PMID:21244692 PMID:21744992 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23296741 PMID:23334666 PMID:23469205 PMID:23960188 PMID:24033266 PMID:24390236 PMID:24506336 PMID:24713400 PMID:24728327 PMID:24884479 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25431674 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25741868 PMID:26084796 PMID:26270727 PMID:26446916 PMID:26467025 PMID:26506619 PMID:26580448 PMID:26641009 PMID:26681312 PMID:26787654 PMID:26822237 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27443514 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27751358 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28195393 PMID:28211887 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28553140 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28828701 PMID:28874143 PMID:28944238 PMID:28981386 PMID:29335925 PMID:29351919 PMID:29484706 PMID:29489754 PMID:29520813 PMID:29522266 PMID:29596542 PMID:29785153 PMID:29902706 PMID:29958926 PMID:29961768 PMID:29987844 PMID:30067863 PMID:30152102 PMID:30287823 PMID:30344923 PMID:30374176 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31220302 PMID:31300551 PMID:31415627 PMID:31422574 PMID:31843900 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32566746 |
|
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 |
|
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8401536 PMID:8423216 PMID:8633021 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22811390 PMID:22887876 PMID:22899716 PMID:22915647 PMID:23031740 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28975465 PMID:29478780 PMID:29489754 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30720243 PMID:30816478 PMID:31775759 PMID:32000721 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
|
G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732 |
|
NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
|
|
G |
Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
|
ISO |
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:29386252 |
|
NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
|
|
G |
Sdhc |
succinate dehydrogenase complex subunit C |
|
ISO |
ClinVar Annotator: match by term: Carney triad |
ClinVar |
PMID:12658451 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 |
|
NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
|
|
|
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
|
|
G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Cavernous Sinus Meningioma |
ClinVar |
|
|
NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
|
|
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
|
|
|
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
|
|
|
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
|
|
|
G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:12598313 |
RGD:4892624 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
|
|
G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770606, PMID:23770606 |
RGD:8657387 |
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
|
|
G |
Ext1 |
exostosin glycosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Chondrosarcoma mRNA:decreased expression:epiphyseal plate (human) ClinVar Annotator: match by OMIM:215300 |
OMIM ClinVar |
PMID:8981950 PMID:25741868, PMID:17226760 |
RGD:13208235 |
NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
IEP |
protein:increased expression:growth plate |
RGD |
PMID:17907424 |
RGD:11568634 |
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
|
|
G |
Mtor |
mechanistic target of rapamycin kinase |
disease_progression |
IMP |
|
RGD |
PMID:22761648 |
RGD:10040952 |
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
|
|
G |
Taf15 |
TATA-box binding protein associated factor 15 |
|
ISO |
extraskeletal myxoid chondrosarcomas (EMC) |
RGD |
PMID:10602519 |
RGD:1599281 |
NCBI chr10:70,689,863...70,721,892
Ensembl chr10:70,689,863...70,721,892
|
|
|
G |
Mn1 |
MN1 proto-oncogene, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Chordoma |
ClinVar |
|
|
NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
|
|
G |
Tbxt |
T-box transcription factor T |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19801981 PMID:23064415 |
|
NCBI chr 1:52,887,067...52,900,691
Ensembl chr 1:52,887,067...52,894,832
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
LOC102554746 |
uncharacterized LOC102554746 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,559,028...45,581,410
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
|
ISO |
ClinVar Annotator: match by term: CIC-DUX Sarcoma |
ClinVar |
PMID:21802064 |
|
NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
|
|
G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
|
ISO |
ClinVar Annotator: match by term: CIC-DUX Sarcoma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
|
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
DNA:gene fusion:exon associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion |
RGD |
PMID:12641779, PMID:22153773 |
RGD:2292195, RGD:5688300 |
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
|
|
G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
DNA:gene fusion:exon ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans |
ClinVar OMIM |
PMID:28492532, PMID:12641779 |
RGD:2292195 |
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
|
|
|
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
|
|
G |
Brip1 |
BRCA1 interacting protein C-terminal 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
|
|
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: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:23469205 PMID:24033266 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 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: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
|
|
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
|
|
|
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
|
|
|
G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
|
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
|
|
G |
Bcor |
BCL6 co-repressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
|
NCBI chr X:11,570,155...11,692,022
Ensembl chr X:11,648,989...11,691,099
|
|
G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15475955 |
|
NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
|
|
G |
Dmd |
dystrophin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24793134 |
|
NCBI chr X:51,149,358...53,519,271
Ensembl chr X:51,286,737...53,519,259
|
|
G |
Myod1 |
myogenic differentiation 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24793135 |
|
NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma embryonal |
ClinVar |
PMID:26619011 PMID:26822237 |
|
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
|
|
G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
|
NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
|
|
G |
Slc22a18 |
solute carrier family 22, member 18 |
|
ISS |
OMIM:268210 |
MouseDO |
|
|
NCBI chr 1:216,676,330...216,700,632
Ensembl chr 1:216,677,373...216,700,641
|
|
G |
Stk11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
|
|
G |
Yap1 |
Yes1 associated transcriptional regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31494105 |
|
NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
G |
Bap1 |
Brca1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ewing's sarcoma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
|
|
G |
Cd99 |
CD99 molecule (Xg blood group) |
|
ISO |
ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present |
ClinVar |
PMID:25741868 |
|
NCBI chr20:56,192,426...56,196,961
Ensembl chr20:56,192,390...56,197,025
|
|
G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Ewing tumor |
ClinVar |
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:28166811 PMID:28492532 PMID:30093976 |
|
NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
|
|
G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17508423 |
|
NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
|
|
G |
Egr2 |
early growth response 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214589 |
|
NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
|
|
G |
Ewsr1 |
EWS RNA-binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ewing's sarcoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532, PMID:1522903 |
RGD:1598915 |
NCBI chr14:85,322,105...85,350,826
Ensembl chr14:85,322,296...85,350,948
|
|
G |
Fli1 |
Fli-1 proto-oncogene, ETS transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11772151 PMID:16646077 PMID:26214589 |
|
NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
|
|
G |
Kdm3a |
lysine demethylase 3A |
|
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:24362521 |
RGD:9590218 |
NCBI chr 4:99,503,160...99,547,315
Ensembl chr 4:99,503,176...99,546,905
|
|
G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Ewing's sarcoma |
ClinVar |
PMID:7607663 PMID:9385374 PMID:9463322 PMID:10494088 PMID:10607834 PMID:11137998 PMID:12112660 PMID:12807981 PMID:15060124 PMID:16479075 PMID:16870183 PMID:17311297 PMID:22925204 PMID:23668869 PMID:23913538 PMID:25741868 PMID:25810463 PMID:26467025 PMID:26962827 PMID:27322474 PMID:28492532 PMID:31730495 |
|
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
|
|
G |
Tspan31 |
tetraspanin 31 |
|
ISO |
ClinVar Annotator: match by term: Ewing tumor |
ClinVar |
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:28166811 PMID:28492532 PMID:30093976 |
|
NCBI chr 7:70,352,679...70,355,555
Ensembl chr 7:70,352,251...70,355,619
|
|
|
G |
Epcam |
epithelial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Ewing sarcoma of soft tissue |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:11,282,194...11,308,870
Ensembl chr 6:11,281,964...11,298,216
|
|
G |
Ret |
ret proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Ewing sarcoma of soft tissue |
ClinVar |
PMID:24336963 PMID:24429398 PMID:24755471 PMID:25256751 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29263839 PMID:29642553 |
|
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
|
|
|
G |
Nr4a3 |
nuclear receptor subfamily 4, group A, member 3 |
|
ISO |
|
OMIM |
|
|
NCBI chr 5:63,781,801...63,822,890
Ensembl chr 5:63,781,801...63,821,637
|
|
G |
Taf15 |
TATA-box binding protein associated factor 15 |
|
ISO |
|
OMIM |
|
|
NCBI chr10:70,689,863...70,721,892
Ensembl chr10:70,689,863...70,721,892
|
|
|
G |
Cdc73 |
cell division cycle 73 |
|
ISO |
ClinVar Annotator: match by term: Cystic parathyroid adenoma |
ClinVar |
PMID:12434154 |
|
NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
|
|
|
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
|
|
|
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
|
|
|
G |
Cdc42 |
cell division cycle 42 |
|
ISO |
|
RGD |
PMID:17971488 |
RGD:5688275 |
NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
|
|
G |
Egr1 |
early growth response 1 |
|
ISO |
human tumor line expressing mouse gene in mouse model |
RGD |
PMID:7585551 |
RGD:5131944 |
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
|
|
G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
susceptibility |
ISO |
|
RGD |
PMID:11238917 |
RGD:11567233 |
NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
|
|
G |
Nf1 |
neurofibromin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20601955 |
|
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
|
|
G |
Serpine1 |
serpin family E member 1 |
severity |
ISO |
|
RGD |
PMID:11059781 |
RGD:8547752 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
|
|
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
|
|
G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
human gene in mouse model |
RGD |
PMID:10753499 |
RGD:5131435 |
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
|
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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: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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:21858729 |
RGD:6771207 |
NCBI chr10:94,850,971...94,913,202
|
|
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
|
|
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: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:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28492532 PMID:28941273 PMID:29446767 PMID:31568861 PMID:31775759 |
|
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Pole |
DNA polymerase epsilon, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26619011 |
|
NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Srrt |
serrate, RNA effector molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30542699 |
|
NCBI chr12:22,457,898...22,471,090
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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: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: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: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: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: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: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: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:29416011 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:30675318 PMID:30720243 PMID:30816478 PMID:30840781 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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
G |
Glmn |
glomulin, FKBP associated protein |
|
ISO |
glomuvenous malformations |
RGD |
PMID:11845407 |
RGD:1598992 |
NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
|
|
G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Glomus tumor |
ClinVar |
PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 |
|
NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
|
|
|
G |
Glmn |
glomulin, FKBP associated protein |
|
ISO |
ClinVar Annotator: match by OMIM:138000 ClinVar Annotator: match by term: Glomuvenous malformations |
ClinVar OMIM |
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
|
|
|
G |
Tsc2 |
TSC complex subunit 2 |
|
IAGP |
DNA:mutations:multiple associated with tuberous sclerosis;DNA:mutations:multiple |
RGD |
PMID:29512829, PMID:22251200 |
RGD:21079730, RGD:21079732 |
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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: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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Brca2 |
BRCA2, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Glioma susceptibility 3 ClinVar Annotator: match by term: Brainstem glioma |
OMIM ClinVar |
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:12373604 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16683254 PMID:16825431 PMID:16912212 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19471317 PMID:19654294 PMID:19863560 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24504028 PMID:24728189 PMID:24830819 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26064523 PMID:26187060 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:28008555 PMID:28039656 PMID:28294317 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29478780 PMID:29492181 PMID:29753700 PMID:29907814 PMID:29909963 PMID:30287823 PMID:30350268 PMID:32295079 |
|
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
severity treatment |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:20844987, PMID:9144534, PMID:18791688 |
RGD:13702125, RGD:13702129, RGD:13702128 |
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
|
|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
disease_progression |
ISO |
DNA:deletions CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15814359 PMID:19578367, PMID:11314047 |
RGD:8552305 |
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
|
|
G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578366 PMID:19578367 |
|
NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
|
|
G |
Chaf1a |
chromatin assembly factor 1 subunit A |
susceptibility |
ISO |
DNA:SNP:intron:rs243356(human) |
RGD |
PMID:18048407 |
RGD:9587459 |
NCBI chr 9:11,000,869...11,027,631
Ensembl chr 9:11,001,129...11,027,506
|
|
G |
Chaf1b |
chromatin assembly factor 1 subunit B |
disease_progression |
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
|
|
G |
Chek2 |
checkpoint kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
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: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:23469205 PMID:24033266 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 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: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
|
|
G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20506295 |
|
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
|
|
G |
Clcn2 |
chloride voltage-gated channel 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
|
NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
|
|
G |
Clcn3 |
chloride voltage-gated channel 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
|
NCBI chr16:32,448,821...32,520,649
Ensembl chr16:32,449,116...32,519,148
|
|
G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
|
NCBI chr X:16,170,585...16,196,691
Ensembl chr X:16,050,780...16,196,789
|
|
G |
Cntn2 |
contactin 2 |
severity |
ISO |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:11280781 |
RGD:734799 |
NCBI chr13:49,280,913...49,314,061
Ensembl chr13:49,285,310...49,313,940
|
|
G |
Cox8a |
cytochrome c oxidase subunit 8A |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,466,575...222,468,896
Ensembl chr 1:222,466,575...222,468,896
|
|
G |
Csf1 |
colony stimulating factor 1 |
|
IMP |
|
RGD |
PMID:15728459 |
RGD:2293641 |
NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
|
|
G |
Ctsb |
cathepsin B |
|
IDA |
|
RGD |
PMID:17287256 |
RGD:2315520 |
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
|
|
G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
IMP |
|
RGD |
PMID:16434036 |
RGD:5135509 |
NCBI chr X:71,614,346...71,616,997
Ensembl chr X:71,614,346...71,616,997
|
|
G |
Cyp2b1 |
cytochrome P450, family 2, subfamily b, polypeptide 1 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7834628 |
|
NCBI chr 7:99,142,431...99,183,540
Ensembl chr 7:99,142,450...99,181,783
|
|
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
|
|
G |
Dcn |
decorin |
disease_progression |
ISO |
|
RGD |
PMID:15475879 |
RGD:2311425 |
NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
|
|
G |
Dcx |
doublecortin |
disease_progression treatment |
ISO |
|
RGD |
PMID:17178868, PMID:21477071, PMID:19681167 |
RGD:12904748, RGD:12904761, RGD:12904754 |
NCBI chr X:115,098,675...115,175,515
Ensembl chr X:115,098,675...115,175,299
|
|
G |
Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
|
|
G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
|
ISO |
|
RGD |
PMID:16288219 |
RGD:1625600 |
NCBI chr 6:133,576,513...133,583,751
Ensembl chr 6:133,552,821...133,583,751
|
|
G |
Dmxl1 |
Dmx-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
|
NCBI chr18:44,468,762...44,644,769
Ensembl chr18:44,468,784...44,642,050
|
|
G |
Dnajc4 |
DnaJ heat shock protein family (Hsp40) member C4 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,242,889...222,247,115
Ensembl chr 1:222,242,858...222,246,768
|
|
G |
Dpf2 |
double PHD fingers 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042
|
|
G |
Dusp29 |
dual specificity phosphatase 29 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
|
|
G |
E2f1 |
E2F transcription factor 1 |
severity |
ISO |
|
RGD |
PMID:28042322 |
RGD:13702468 |
NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
|
|
G |
E2f3 |
E2F transcription factor 3 |
disease_progression |
ISO |
|
RGD |
PMID:28337965 |
RGD:13702470 |
NCBI chr17:36,334,136...36,408,831
Ensembl chr17:36,334,147...36,408,831
|
|
G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:19887559 |
RGD:10401656 |
NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
|
|
G |
Efl1 |
elongation factor like GTPase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25015090 |
|
NCBI chr 1:144,601,425...144,740,634
Ensembl chr 1:144,601,410...144,740,735
|
|
G |
Egf |
epidermal growth factor |
susceptibility |
ISO |
DNA:polymorphism:promoter:+61A>G(human) DNA:polymorphism:promoter:GG genotypes were associated with increased risk. |
RGD |
PMID:22106858, PMID:17473192 |
RGD:13702473, RGD:13702474 |
NCBI chr 2:68,820,616...68,895,537
|
|
G |
Egfr |
epidermal growth factor receptor |
treatment |
ISO IMP |
protein:alternative form:tumor (human) ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
PMID:17177598 PMID:26619011, PMID:7606735, PMID:10616092 |
RGD:5131512, RGD:38599219 |
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
|
|
G |
Ehbp1l1 |
EH domain binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,061,878...221,084,423
Ensembl chr 1:221,062,147...221,084,129
|
|
G |
Ehd1 |
EH-domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,644,867...221,667,242
Ensembl chr 1:221,644,867...221,667,239
|
|
G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
|
RGD |
PMID:19558578 |
RGD:9685528 |
NCBI chr 3:2,617,795...2,623,818
Ensembl chr 3:2,617,805...2,623,445
|
|
G |
Epha5 |
EPH receptor A5 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
|
NCBI chr14:25,589,312...25,958,258
Ensembl chr14:25,589,762...25,958,227
|
|
G |
Epo |
erythropoietin |
|
ISO |
|
RGD |
PMID:21749867 |
RGD:10400910 |
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
|
|
G |
Epor |
erythropoietin receptor |
|
IMP |
|
RGD |
PMID:21749867 |
RGD:10400910 |
NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
|
|
G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
susceptibility |
ISO |
ClinVar Annotator: match by OMIM:137800 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:15457249 |
|
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
|
|
G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
susceptibility |
ISO |
DNA:snp:3'utr:c.8092C>A (human) (rs3212986) |
RGD |
PMID:25867436 |
RGD:13207318 |
NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
|
|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
|
RGD |
PMID:11319176 |
RGD:10401082 |
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
|
|
G |
Esrra |
estrogen related receptor, alpha |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,168,729...222,178,842
Ensembl chr 1:222,168,730...222,178,725
|
|
G |
F2 |
coagulation factor II |
treatment |
IMP |
|
RGD |
PMID:15975137 |
RGD:1578509 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
|
|
G |
Fam107a |
family with sequence similarity 107, member A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
|
NCBI chr15:18,399,145...18,415,959
Ensembl chr15:18,399,515...18,415,965
|
|
G |
Fam89b |
family with sequence similarity 89, member B |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,085,894...221,087,449
Ensembl chr 1:221,085,895...221,087,449
|
|
G |
Fas |
Fas cell surface death receptor |
severity |
ISO |
mouse gene in a rat model |
RGD |
PMID:11440439 |
RGD:8663460 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
|
|
G |
Fau |
FAU, ubiquitin like and ribosomal protein S30 fusion |
|
ISO |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
|
|
NCBI chr 1:221,420,312...221,421,827
Ensembl chr 1:221,420,271...221,421,842
|
|
G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18931460 |
|
NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
|
|
G |
Fermt3 |
FERM domain containing kindlin 3 |
|
ISO |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
|
|
NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
|
|
G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10673511 |
|
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Astrocytoma ClinVar Annotator: match by term: Brainstem glioma |
CTD ClinVar |
PMID:10766980 PMID:23583981 PMID:23819449 PMID:25705862 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 |
|
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
|
|
G |
Flrt1 |
fibronectin leucine rich transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,340,481...222,417,915
Ensembl chr 1:222,344,713...222,350,173
|
|
G |
Flt3lg |
Fms related receptor tyrosine kinase 3 ligand |
treatment |
ISO |
|
RGD |
PMID:15564139 |
RGD:11049500 |
NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413
|
|
G |
Frmd8 |
FERM domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
|
|
NCBI chr 1:221,213,312...221,233,967
Ensembl chr 1:221,213,312...221,233,962
|
|
G |
Fth1 |
ferritin heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21385903 |
|
NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228
|
|
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
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
IMP |
|
RGD |
PMID:22808518 |
RGD:7207264 |
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
|
|
G |
Glb1 |
galactosidase, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
|
|
G |
Gon4l |
gon-4 like |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 2:188,139,730...188,212,902
Ensembl chr 2:188,139,730...188,215,723
|
|
G |
Gpha2 |
glycoprotein hormone subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,594,110...221,597,297
Ensembl chr 1:221,596,148...221,597,296
|
|
G |
Gpr137 |
G protein-coupled receptor 137 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,194,266...222,197,252
Ensembl chr 1:222,194,266...222,197,252
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
severity |
ISO |
|
RGD |
PMID:10965818 |
RGD:5490163 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
|
|
G |
Gstm3 |
glutathione S-transferase mu 3 |
|
ISO |
DNA: deletion: intron 6 |
RGD |
PMID:16598069 |
RGD:5688743 |
NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
|
|
G |
Gstm5 |
glutathione S-transferase, mu 5 |
|
ISO |
DNA: deletion: intron 6 |
RGD |
PMID:16598069 |
RGD:5688743 |
NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
|
|
G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16899598, PMID:15006924 |
RGD:5490124 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
|
|
G |
H3f3a |
H3.3 histone A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma |
CTD ClinVar |
PMID:22286216 PMID:23583981 PMID:26619011 |
|
NCBI chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
|
|
G |
Hdac3 |
histone deacetylase 3 |
disease_progression |
ISO |
mRNA,protein:increased expression:brain: ClinVar Annotator: match by term: Ependymoma |
ClinVar |
PMID:23685192 |
RGD:9590201 |
NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
|
|
G |
Hells |
helicase, lymphoid specific |
severity |
ISO |
|
RGD |
PMID:28042322 |
RGD:13702468 |
NCBI chr 1:257,901,856...257,953,889
Ensembl chr 1:257,766,691...257,949,183 Ensembl chr 1:257,766,691...257,949,183
|
|
G |
Hgf |
hepatocyte growth factor |
disease_progression |
ISO |
protein:increased expression:brain: |
RGD |
PMID:12115353 |
RGD:8548633 |
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
|
|
G |
Hmgb1 |
high mobility group box 1 |
treatment |
IMP |
|
RGD |
PMID:10830965 |
RGD:10402059 |
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
|
|
G |
Hmgn5 |
high mobility group nucleosome binding domain 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22109888 |
|
NCBI chr X:80,134,557...80,142,902
Ensembl chr X:80,134,557...80,142,902
|
|
G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30619488 |
|
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
|
|
G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
|
|
G |
Hspa5 |
heat shock protein family A (Hsp70) member 5 |
|
ISO |
protein:increased expression |
RGD |
PMID:21112319 |
RGD:5685704 |
NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
|
|
G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Brainstem glioma CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:19901110 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25391653 PMID:25741868 PMID:25848751 PMID:26618343 PMID:26619011 PMID:28122345 |
|
NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
|
|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23949315 PMID:24606448 PMID:25157968 PMID:26619011 |
|
NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
|
|
G |
Ifng |
interferon gamma |
|
IDA |
|
RGD |
PMID:10078962 |
RGD:727266 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
|
|
G |
Igf1 |
insulin-like growth factor 1 |
severity |
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
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
DNA: SNP: : rs2272037 or rs2016347 |
RGD |
PMID:18562769 |
RGD:5686434 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
|
|
G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
severity |
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
|
|
G |
Il10 |
interleukin 10 |
susceptibility |
ISO |
DNA:SNP: :rs1800896 (human) |
RGD |
PMID:20406895 |
RGD:4140470 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
|
|
G |
Il12a |
interleukin 12A |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18176109 |
|
NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
|
|
G |
Il12b |
interleukin 12B |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18176109 |
|
NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
|
|
G |
Il18 |
interleukin 18 |
treatment |
ISO |
|
RGD |
PMID:18725309 |
RGD:8657054 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
|
|
G |
Il2 |
interleukin 2 |
treatment |
ISO |
|
RGD |
PMID:12864971 |
RGD:8663439 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
|
|
G |
Il4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:9973213 |
RGD:8142389 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
|
|
G |
Il7 |
interleukin 7 |
|
IDA |
|
RGD |
PMID:10078962 |
RGD:727266 |
NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
|
|
G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
|
|
G |
Kcnk4 |
potassium two pore domain channel subfamily K member 4 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,182,997...222,192,139
Ensembl chr 1:222,183,276...222,189,604
|
|
G |
Kcnk7 |
potassium two pore domain channel subfamily K member 7 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,056,477...221,060,607
Ensembl chr 1:221,057,713...221,060,747
|
|
G |
Kdm5b |
lysine demethylase 5B |
disease_progression |
ISO |
|
RGD |
PMID:25450384, PMID:25450384 |
RGD:13702126, RGD:13702126 |
NCBI chr13:51,384,371...51,455,392
Ensembl chr13:51,384,389...51,455,357
|
|
G |
Kdr |
kinase insert domain receptor |
disease_progression severity |
ISO |
|
RGD |
PMID:20501615, PMID:10506722 |
RGD:5684393, RGD:5684425 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
|
|
G |
Klhl21 |
kelch-like family member 21 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 5:169,181,418...169,190,073
Ensembl chr 5:169,181,418...169,190,073
|
|
G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
severity |
ISO |
|
RGD |
PMID:22207524, PMID:19435821 |
RGD:13702477, RGD:13702860 |
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
|
|
G |
Kremen2 |
kringle containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr10:13,076,042...13,081,210
Ensembl chr10:13,076,679...13,081,136
|
|
G |
Lats1 |
large tumor suppressor kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:1,784,078...1,817,310
Ensembl chr 1:1,784,078...1,817,310
|
|
G |
Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr14:82,227,790...82,267,298
Ensembl chr14:82,227,708...82,267,350
|
|
G |
Lgals3 |
galectin 3 |
disease_progression |
IEP |
|
RGD |
PMID:23179497 |
RGD:9685225 |
NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
|
|
G |
Lig4 |
DNA ligase 4 |
|
ISO |
DNA:SNP: :rs1805388 (human) |
RGD |
PMID:23663450 |
RGD:13204718 |
NCBI chr16:85,331,771...85,339,496
Ensembl chr16:85,331,866...85,337,769
|
|
G |
LOC100362101 |
hypothetical LOC100362101 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 2:43,298,112...43,301,515
|
|
G |
LOC100364500 |
RT1 class I, locus CE11-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14511464 |
|
NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
|
|
G |
LOC684819 |
similar to H3 histone, family 2 isoform 2 |
|
ISO |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
PMID:26619011 |
|
NCBI chr17:43,794,397...43,795,493
|
|
G |
Lta |
lymphotoxin alpha |
treatment |
ISO |
|
RGD |
PMID:1883913 |
RGD:1625042 |
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
|
|
G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
|
|
G |
Macrod1 |
mono-ADP ribosylhydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,310,916...222,451,485
Ensembl chr 1:222,310,920...222,451,484
|
|
G |
Majin |
membrane anchored junction protein |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,540,551...221,594,124
Ensembl chr 1:221,558,093...221,594,118
|
|
G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
|
ISO |
|
RGD |
PMID:21057530 |
RGD:13702863 |
NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
|
|
G |
Map3k11 |
mitogen-activated protein kinase kinase kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,043,119...221,056,420
Ensembl chr 1:221,043,119...221,056,417
|
|
G |
Map4k2 |
mitogen activated protein kinase kinase kinase kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,710,622...221,726,274
Ensembl chr 1:221,710,670...221,725,656
|
|
G |
Map4k3 |
mitogen-activated protein kinase kinase kinase kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 6:3,276,732...3,444,519
Ensembl chr 6:3,276,738...3,444,519
|
|
G |
Mapk3 |
mitogen activated protein kinase 3 |
|
ISO |
|
RGD |
PMID:27256374 |
RGD:13702865 |
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
|
|
G |
Mark2 |
microtubule affinity regulating kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,525,547...222,590,727
Ensembl chr 1:222,525,990...222,590,220
|
|
G |
Mdk |
midkine |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21233844 |
|
NCBI chr 3:80,841,003...80,843,895
Ensembl chr 3:80,841,005...80,842,916
|
|
G |
Men1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
|
|
G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
IEP |
protein:increased expression:brain, glioma (rat) |
RGD |
PMID:18194445 |
RGD:2317467 |
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
|
|
G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033832 PMID:16899598 PMID:19901110 |
|
NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
|
|
G |
Mir192 |
microRNA 192 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,634,971...221,635,080
Ensembl chr 1:221,634,971...221,635,080
|
|
G |
Mir194-2 |
microRNA 194-2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,634,786...221,634,870
Ensembl chr 1:221,634,786...221,634,870
|
|
G |
Mki67 |
marker of proliferation Ki-67 |
|
IDA |
|
RGD |
PMID:22262719 |
RGD:6483547 |
NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
IEP |
|
RGD |
PMID:19292920 |
RGD:8657080 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
|
|
G |
Mrpl49 |
mitochondrial ribosomal protein L49 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,417,336...221,420,115
Ensembl chr 1:221,417,336...221,420,115
|
|
G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
|
|
G |
Mtor |
mechanistic target of rapamycin kinase |
severity |
ISO |
|
RGD |
PMID:20878445 |
RGD:13702868 |
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
|
|
G |
Myb |
MYB proto-oncogene, transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583981 PMID:26829751 |
|
NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
|
|
G |
Mybl1 |
MYB proto-oncogene like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583981 |
|
NCBI chr 5:9,279,756...9,315,112
Ensembl chr 5:9,279,970...9,315,114
|
|
G |
Mylk |
myosin light chain kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10232591 |
|
NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
|
|
G |
Naa40 |
N(alpha)-acetyltransferase 40, NatD catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,478,021...222,495,382
Ensembl chr 1:222,478,021...222,495,382
|
|
G |
Naaladl1 |
N-acetylated alpha-linked acidic dipeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,470,675...221,484,222
Ensembl chr 1:221,470,674...221,484,217
|
|
G |
Nadsyn1 |
NAD synthetase 1 |
susceptibility |
ISO |
|
RGD |
PMID:22740028 |
RGD:13703114 |
NCBI chr 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702
|
|
G |
Ndrg4 |
NDRG family member 4 |
disease_progression |
ISO |
protein:decreased expression:brain |
RGD |
PMID:22399192 |
RGD:7247727 |
NCBI chr19:9,766,439...9,802,396
Ensembl chr19:9,766,439...9,801,942
|
|
G |
Net1 |
neuroepithelial cell transforming 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr17:69,991,786...70,020,977
Ensembl chr17:70,010,794...70,020,982
|
|
G |
Nf1 |
neurofibromin 1 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations: : |
CTD |
PMID:25119042, PMID:26190195 |
RGD:12789702 |
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
|
|
G |
Nf2 |
neurofibromin 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
|
|
G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
protein:increased expression:blood vessel endothelial cell |
RGD |
PMID:14672505 |
RGD:2292080 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
|
|
G |
Nrxn2 |
neurexin 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,792,191...221,908,047
Ensembl chr 1:221,792,221...221,908,049
|
|
G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705251 |
|
NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
|
|
G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705251 |
|
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
|
|
G |
Ntrk3 |
neurotrophic receptor tyrosine kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705251 |
|
NCBI chr 1:139,890,537...140,262,503
Ensembl chr 1:139,890,560...140,262,503
|
|
G |
Nudt22 |
nudix hydrolase 22 |
|
ISO |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
|
|
NCBI chr 1:222,247,500...222,251,053
Ensembl chr 1:222,247,502...222,250,980
|
|
G |
Otub1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,451,674...222,459,952
Ensembl chr 1:222,451,674...222,459,952
|
|
G |
Otud5 |
OTU deubiquitinase 5 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr X:15,471,212...15,504,372
Ensembl chr X:15,471,211...15,504,165
|
|
G |
Patz1 |
POZ (BTB) and AT hook containing zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr14:83,509,763...83,528,898
Ensembl chr14:83,510,278...83,528,898
|
|
G |
Pcmt1 |
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 |
|
IEP |
mRNA:decreased expression:brain: |
RGD |
PMID:15857672 |
RGD:10448283 |
NCBI chr 1:1,734,863...1,767,759
Ensembl chr 1:1,736,276...1,767,618
|
|
G |
Pcnx3 |
pecanex 3 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,019,091...221,041,959
Ensembl chr 1:221,019,500...221,041,401
|
|
G |
Pdap1 |
PDGFA associated protein 1 |
severity |
ISO |
|
RGD |
PMID:27448842 |
RGD:13702895 |
NCBI chr12:11,240,775...11,251,002
Ensembl chr12:11,240,761...11,251,004
|
|
G |
Pdgfa |
platelet derived growth factor subunit A |
|
ISO |
in a mouse model |
RGD |
PMID:21490965 |
RGD:13702894 |
NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
|
|
G |
Pdgfb |
platelet derived growth factor subunit B |
severity |
ISO |
|
RGD |
PMID:27448842, PMID:21677873, PMID:26945107 |
RGD:13702895, RGD:13702897, RGD:13702896 |
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
|
|
G |
Phldb1 |
pleckstrin homology-like domain, family B, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578367 |
|
NCBI chr 8:48,997,189...49,045,176
Ensembl chr 8:48,997,184...49,045,154
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Brainstem glioma ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28492532 PMID:28941273 PMID:29446767 PMID:31775759, PMID:16847462 |
RGD:2290476 |
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
|
|
G |
Pik3r3 |
phosphoinositide-3-kinase regulatory subunit 3 |
treatment |
ISO |
|
RGD |
PMID:28260020 |
RGD:13782053 |
NCBI chr 5:135,069,972...135,145,633
Ensembl chr 5:135,074,297...135,142,488
|
|
G |
Plau |
plasminogen activator, urokinase |
severity |
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:7604873 |
RGD:7241260 |
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
|
|
G |
Plcb3 |
phospholipase C beta 3 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,207,887...222,224,993
Ensembl chr 1:222,209,575...222,224,910
|
|
G |
Plk1 |
polo-like kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22000864 |
|
NCBI chr 1:192,115,990...192,125,969
Ensembl chr 1:192,115,966...192,125,989
|
|
G |
Pola2 |
DNA polymerase alpha 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,297,417...221,321,601
Ensembl chr 1:221,273,538...221,321,570
|
|
G |
Pot1 |
protection of telomeres 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Glioma susceptibility 9 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:24686846 PMID:25482530 PMID:27329137 PMID:28393830 PMID:28393832 PMID:28492532 |
|
NCBI chr 4:51,888,632...51,946,764
Ensembl chr 4:51,888,634...51,946,715
|
|
G |
Pou3f4 |
POU class 3 homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr X:82,143,789...82,145,066
Ensembl chr X:82,143,789...82,145,066
|
|
G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
ClinVar Annotator: match by term: Glioma susceptibility 1 |
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
|
|
G |
Ppm1d |
protein phosphatase, Mg2+/Mn2+ dependent, 1D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24880341 |
|
NCBI chr10:72,909,550...72,945,884
Ensembl chr10:72,909,550...72,945,884
|
|
G |
Ppp1r14b |
protein phosphatase 1, regulatory (inhibitor) subunit 14B |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,229,835...222,231,945
Ensembl chr 1:222,229,835...222,231,944
|
|
G |
Ppp2r5b |
protein phosphatase 2, regulatory subunit B', beta |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,597,294...221,605,467
Ensembl chr 1:221,597,296...221,605,400
|
|
G |
Prdx5 |
peroxiredoxin 5 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:222,164,462...222,167,447
Ensembl chr 1:222,164,462...222,167,447
|
|
G |
Prkca |
protein kinase C, alpha |
|
ISO |
DNA:gene fusion: : |
RGD |
PMID:26671581 |
RGD:11087038 |
NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
|
|
G |
Psd3 |
pleckstrin and Sec7 domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
|
NCBI chr16:23,212,165...23,789,414
Ensembl chr16:23,447,366...23,781,604
|
|
G |
Pten |
phosphatase and tensin homolog |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioma susceptibility 2 ClinVar Annotator: match by term: Brainstem glioma DNA:deletions, missense mutations, nonsense mutation:exons:multiple (human) |
CTD ClinVar OMIM |
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:11685670 PMID:12085208 PMID:14518070 PMID:17392703 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:27477328 PMID:27535533 PMID:27959697 PMID:28492532 PMID:28526761 PMID:30287823 PMID:32238909, PMID:9090379 |
RGD:12801495 |
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15561105 |
|
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:17177198 PMID:18470943 PMID:19047918 PMID:21930766 PMID:23756559 PMID:23825065 PMID:24033266 PMID:25097206 PMID:26619011 PMID:27783593 |
|
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
|
|
G |
Pygm |
glycogen phosphorylase, muscle associated |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,756,325...221,771,142
Ensembl chr 1:221,756,286...221,771,143
|
|
G |
Qk |
quaking |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26829751 |
|
NCBI chr 1:50,983,647...51,050,692
|
|
G |
Raf1 |
Raf-1 proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583981 |
|
NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
|
|
G |
Rasgrp2 |
RAS guanyl releasing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
|
NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
|
|
G |
Rassf1 |
Ras association domain family member 1 |
|
ISO |
|
RGD |
PMID:17325427 |
RGD:2291979 |
NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
|
|
G |
Rcor2 |
REST corepressor 2 |
|
| |