musculoskeletal system cancer - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
Accession:	DOID:0060100	browse the term
Definition:	An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. (DO)
Synonyms:	exact_synonym:	skeletal system cancer

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Rat (891) Mouse (1026) Human (14108) Chinchilla (744) Bonobo (777) Dog (950) Squirrel (748) Pig (774) Green Monkey (764) Naked Mole-rat (733) All
Genes (785) Cell Lines (165)

adenomatoid tumor

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G

TNF receptor associated factor 7

DNA:missense mutations:multiple

NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167

Adult Cerebral Astrocytoma

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RGD Reference(s)

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matrix metallopeptidase 1

susceptibility

DNA:insertion:promoter:g.-1607insG (human)

NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648

adult spinal cord ependymoma

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chromodomain helicase DNA binding protein 6

ClinVar Annotator: match by term: Adult spinal cord ependymoma

NCBI chr24:29,397,320...29,601,206
Ensembl chr24:29,397,306...29,601,350

AIDS-Related Kaposi Sarcoma

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RGD Reference(s)

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G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

interleukin 32

mRNA:increased expression:zone of skin, blood serum (human)

NCBI chr 6:38,119,287...38,122,979

alveolar rhabdomyosarcoma

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forkhead box O1

NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825

G

paired box 3

ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma

PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 More...

NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561

G

paired box 7

ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2

PMID:25741868 PMID:31092906 PMID:32214227

NCBI chr 2:79,813,835...79,952,490
Ensembl chr 2:79,815,748...79,915,003

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839

G

WW domain containing transcription regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:44,277,707...44,409,911
Ensembl chr23:44,278,557...44,410,007

alveolar soft part sarcoma

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ASPSCR1 tether for SLC2A4, UBX domain containing

NCBI chr 9:308,017...331,238
Ensembl chr 9:307,028...331,243

anaplastic astrocytoma

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ATRX chromatin remodeler

ClinVar Annotator: match by term: Astrocytoma, anaplastic

PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More...

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

KRAS proto-oncogene, GTPase

mRNA:decreased expression:brain

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

tumor protein p53

ClinVar Annotator: match by term: Astrocytoma, anaplastic

PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

anaplastic ependymoma

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RGD Reference(s)

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partner and localizer of BRCA2

ClinVar Annotator: match by term: Anaplastic ependymoma

PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 More...

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

ring finger protein 213

ClinVar Annotator: match by term: Anaplastic ependymoma

NCBI chr 9:1,439,061...1,506,658
Ensembl chr 9:1,440,364...1,506,951

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Anaplastic ependymoma

PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More...

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

anaplastic oligodendroglioma

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capicua transcriptional repressor

ClinVar Annotator: match by term: Anaplastic oligodendroglioma

NCBI chr 1:112,081,775...112,105,093
Ensembl chr 1:112,082,265...112,105,082

angiomyolipoma

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8-oxoguanine DNA glycosylase

no_association

associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)

PMID:17932460 PMID:19265534

RGD:8657154 RGD:8657155

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

G

phosphatase and tensin homolog

protein:increased expression:kidney (human)

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:kidney

NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:kidney

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

TSC complex subunit 2

associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

astroblastoma

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microRNA mir-542

disease_progression

NCBI chr X:105,178,359...105,178,417
Ensembl chr X:105,178,347...105,178,430

G

phosphoinositide-3-kinase regulatory subunit 1

severity

PMID:26286747 PMID:26956052

RGD:11343921 RGD:13782052

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

astroblastoma, MN1-altered

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ATM serine/threonine kinase

ClinVar Annotator: match by term: Astroblastoma, MN1-altered

PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More...

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

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chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Astroblastoma, MN1-altered

PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More...

NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291

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TSC complex subunit 2

ClinVar Annotator: match by term: Astroblastoma, MN1-altered

PMID:25741868 PMID:28492532

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

bone osteosarcoma

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AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

checkpoint kinase 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:3313277 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 More...

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

EGF containing fibulin extracellular matrix protein 2

disease_progression
exacerbates

protein:increased expression:bone tissue (human)
mRNA, protein:increased expression:bone tissue (human )

PMID:27157136 PMID:28339091

RGD:42722011 RGD:42722013

NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107

G

ERCC excision repair 2, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 More...

NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125

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RB transcriptional corepressor 1

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:9311732 More...

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

tumor protein p53

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

TSC complex subunit 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:25741868 PMID:26822237

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

brain glioblastoma multiforme

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eukaryotic translation elongation factor 2

protein:increased expression:brain (human)

NCBI chr20:55,577,413...55,586,422
Ensembl chr20:55,522,213...55,586,126

G

microRNA mir-139

RNA:decreased expression:brain:

NCBI chr21:25,597,025...25,597,081
Ensembl chr21:25,597,024...25,597,080

G

neural cell adhesion molecule 1

disease_progression

NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995

G

SUFU negative regulator of hedgehog signaling

human, rat, and/or mouse glioma cells in a mouse model

NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389

brain glioma

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G

BCL2 associated X, apoptosis regulator

treatment

PMID:27255231 PMID:29324390

RGD:13792502 RGD:13792598

NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464

G

BCL2 apoptosis regulator

treatment

PMID:27255231 PMID:29324390

RGD:13792502 RGD:13792598

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

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baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 9:2,930,308...2,959,307

G

bone marrow stromal cell antigen 2

mRNA,protein:increased expression:brain:

NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178

G

caspase 3

treatment

NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505

G

Fas associated via death domain

treatment

NCBI chr18:48,087,447...48,094,497

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Fas cell surface death receptor

treatment

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

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Fas ligand

treatment

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

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forkhead box A1

disease_progression

NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807

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kinase insert domain receptor

protein:increased expression:brain (human)

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

glyceraldehyde-3-phosphate dehydrogenase-like

NCBI chr X:51,925,654...51,926,724

G

microRNA mir-21

human cells in mouse model; RNA:increased expression:brain (human)

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

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protein tyrosine phosphatase receptor type B

human cell in mouse model
protein:increased expression:brain (human)

PMID:16923162 PMID:33900414

RGD:151660356 RGD:151660368

NCBI chr10:12,267,891...12,384,522
Ensembl chr10:12,241,716...12,384,435

G

vascular endothelial growth factor A

protein:increased expression:brain (human)

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

X-ray repair cross complementing 1

susceptibility

DNA:SNP:exon 10: p.R399Q (human)

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

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X-ray repair cross complementing 3

susceptibility

DNA:SNP:exon 8: p.T241M (rs861539) (Human)

NCBI chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408

brain stem glioma

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paired box 3

mRNA,protein:increased expression:brain stem:

NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561

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platelet derived growth factor receptor alpha

severity

NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278

Carney Triad

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succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA

PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More...

NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA

PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More...

NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA

PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More...

NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333

cavernous sinus meningioma

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dihydrofolate reductase

ClinVar Annotator: match by term: Cavernous sinus meningioma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758

NCBI chr 3:26,521,214...26,556,065

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Cavernous sinus meningioma

PMID:21671394 PMID:22126750 PMID:28492532

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

G

mutS homolog 3

ClinVar Annotator: match by term: Cavernous sinus meningioma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758

NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521

cerebellar medulloblastoma

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mutS homolog 6

ClinVar Annotator: match by term: Cerebellar medulloblastoma

NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028

childhood astrocytic tumor

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regulator of telomere elongation helicase 1

susceptibility
ameliorates

DNA:SNP:cds:rs4809324 (human)
DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human)

NCBI chr24:47,219,977...47,248,791

childhood pilocytic astrocytoma

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mitogen-activated protein kinase 1

protein:increased expression:brain:

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

chondrosarcoma

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chitinase 3 like 1

mRNA:increased expression:tumor (human)

NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427

G

collagen type II alpha 1 chain

CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)

NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

G

exostosin glycosyltransferase 1

ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic

PMID:8981950 PMID:9521425 PMID:10679937 PMID:11170095 PMID:11391482 More...

NCBI chr13:17,172,497...17,457,084
Ensembl chr13:17,172,705...17,456,469

G

fibroblast growth factor receptor 3

protein:increased expression:growth plate

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

mechanistic target of rapamycin kinase

disease_progression

NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114

G

TATA-box binding protein associated factor 15

extraskeletal myxoid chondrosarcomas (EMC)

NCBI chr 9:37,842,772...37,873,302
Ensembl chr 9:37,842,772...37,873,094

chordoid glioma

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protein kinase C alpha

DNA:mutation:cds:c.1387G>C,p.D463H(human)

NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630

chordoma

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BRCA2 DNA repair associated

ClinVar Annotator: match by term: Chordoma

PMID:186727 PMID:10923033 PMID:11304778 PMID:11873550 PMID:11920621 More...

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

MN1 proto-oncogene, transcriptional regulator

ClinVar Annotator: match by term: Chordoma

NCBI chr26:21,216,912...21,261,518
Ensembl chr26:21,216,837...21,261,031

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Chordoma

PMID:25085752 PMID:25741868 PMID:26283626 PMID:26315354 PMID:27106063 More...

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

T-box transcription factor T

CTD Direct Evidence: marker/mechanism

PMID:19801981 PMID:23064415

NCBI chr 1:54,183,495...54,192,331
Ensembl chr 1:54,183,153...54,192,352

chromosome 13q14 deletion syndrome

term browser

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aconitate decarboxylase 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:30,545,991...30,557,199
Ensembl chr22:30,547,271...30,555,510

G

ALG11 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:149,538...162,206
Ensembl chr22:151,641...162,512

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266

G

BORA aurora kinase A activator

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:26,880,351...26,906,226
Ensembl chr22:26,879,933...26,906,278

G

calcium binding protein 39 like

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:2,319,239...2,426,554
Ensembl chr22:2,354,884...2,460,857

G

coiled-coil domain containing 70

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:258,746...263,908
Ensembl chr22:258,880...259,563

G

cytidine and dCMP deaminase domain containing 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:2,443,459...2,489,147
Ensembl chr22:2,436,206...2,489,016

G

cytoskeleton associated protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr25:134,914...190,810
Ensembl chr25:135,586...150,835

G

CLN5 intracellular trafficking protein

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:30,568,572...30,575,890
Ensembl chr22:30,568,572...30,575,890

G

chondromodulin

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:9,745,959...9,792,663
Ensembl chr22:9,753,441...9,759,713

G

COMM domain containing 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:29,318,216...29,336,032
Ensembl chr22:29,318,231...29,336,062

G

cysteinyl leukotriene receptor 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551

G

dachshund family transcription factor 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:25,690,700...25,934,449
Ensembl chr22:25,726,597...25,934,550

G

diaphanous related formin 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031

G

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033

G

EBP like

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:2,116,588...2,137,935
Ensembl chr22:2,116,131...2,182,633

G

endothelin receptor type B

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587

G

family with sequence similarity 124 member A

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:786,588...809,284

G

F-box and leucine rich repeat protein 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:30,579,598...30,598,879
Ensembl chr22:30,581,474...30,598,886

G

fibronectin type III domain containing 3A

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:2,524,173...2,700,223
Ensembl chr22:2,526,381...2,700,780

G

integrator complex subunit 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:549,221...636,810
Ensembl chr22:549,179...636,523

G

integral membrane protein 2B

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433

G

potassium channel regulator

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:1,870,964...1,875,849

G

potassium channel tetramerization domain containing 12

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:30,506,906...30,508,782
Ensembl chr22:30,503,932...30,508,632

G

KLF transcription factor 12

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:27,695,017...28,264,813
Ensembl chr22:27,704,686...28,123,099

G

KLF transcription factor 5

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871

G

kelch like family member 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:24,190,862...24,554,451
Ensembl chr22:24,191,778...24,555,120

G

karyopherin subunit alpha 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:2,064,733...2,110,524
Ensembl chr22:2,064,731...2,108,414

G

LIM domain 7

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:29,415,374...29,619,215
Ensembl chr22:29,415,337...29,618,667

G

keratin-associated protein 6-2-like

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr31:25,744,080...25,745,146

G

heterogeneous nuclear ribonucleoprotein A1-like

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr27:9,641,849...9,642,889

G

lysophosphatidic acid receptor 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499

G

mediator complex subunit 4

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608

G

microRNA mir-15a

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:1,846,880...1,846,938
Ensembl chr22:1,846,866...1,846,960

G

microRNA mir-16-1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:1,847,020...1,847,084
Ensembl chr22:1,847,007...1,847,093

G

motilin receptor

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:2,513,218...2,515,380
Ensembl chr22:2,513,218...2,515,380

G

MYC binding protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:30,614,692...30,874,173
Ensembl chr22:30,615,369...30,874,370

G

mitotic spindle organizing protein 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:26,862,454...26,880,213
Ensembl chr22:26,863,674...26,880,126

G

Nedd4 family interacting protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:32,723,052...32,789,409
Ensembl chr22:32,704,437...32,787,151

G

NIMA related kinase 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr25:118,558...130,901

G

NIMA related kinase 5

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:108,089...134,987

G

nudix hydrolase 15

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:3,416,702...3,424,607
Ensembl chr22:3,416,578...3,424,409

G

ORC ubiquitin ligase 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:32,006,441...32,047,609
Ensembl chr22:32,007,210...32,047,527

G

olfactomedin 4

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:10,053,494...10,075,759
Ensembl chr22:9,944,025...10,074,722

G

protocadherin 17

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:13,865,138...13,962,110
Ensembl chr22:13,865,900...13,958,405

G

protocadherin 20

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:17,150,498...17,156,091
Ensembl chr22:17,151,913...17,155,892

G

protocadherin 8

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:9,860,590...9,865,298
Ensembl chr22:9,860,827...9,865,412

G

protocadherin 9

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:21,326,040...22,212,847
Ensembl chr22:21,327,856...22,213,083

G

PHD finger protein 11

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:2,235,758...2,263,772

G

progesterone immunomodulatory binding factor 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308

G

POU class 4 homeobox 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:31,992,657...31,997,066

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

RNA binding motif protein 26

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:32,579,401...32,664,370
Ensembl chr22:32,581,825...32,664,714

G

RCC1 and BTB domain containing protein 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:2,183,089...2,230,748
Ensembl chr22:2,198,185...2,229,485

G

RCC1 and BTB domain containing protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:3,018,628...3,051,059
Ensembl chr22:3,018,137...3,051,269

G

ribonuclease H2 subunit B

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223

G

sciellin

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:30,874,267...31,171,598
Ensembl chr22:31,045,878...31,171,033

G

serpin family E member 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:637,600...666,028
Ensembl chr22:636,466...663,695

G

SET domain bifurcated histone lysine methyltransferase 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:2,263,990...2,319,249
Ensembl chr22:2,244,507...2,319,158

G

SLAIN motif family member 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:31,199,494...31,258,920
Ensembl chr22:31,199,533...31,258,021

G

SLIT and NTRK like family member 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:36,325,548...36,329,784
Ensembl chr22:36,326,751...36,328,841

G

SLIT and NTRK like family member 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177

G

sprouty RTK signaling antagonist 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878

G

SPRY domain containing 7

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:1,929,814...1,947,506
Ensembl chr22:1,849,634...1,945,276

G

succinate-CoA ligase ADP-forming subunit beta

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:3,440,908...3,478,683
Ensembl chr22:3,440,923...3,478,683

G

SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:9,682,026...9,723,412
Ensembl chr22:9,682,169...9,722,979

G

TBC1 domain family member 4

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:29,109,079...29,175,357
Ensembl chr22:29,110,201...29,290,154

G

tudor domain containing 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:16,287,721...16,449,842
Ensembl chr22:16,288,473...16,444,635

G

thrombospondin type 1 domain containing 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560

G

tripartite motif containing 13

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:1,877,672...1,893,097
Ensembl chr22:1,871,181...1,910,055

G

ubiquitin C-terminal hydrolase L3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:29,348,962...29,397,944
Ensembl chr22:29,348,706...29,407,965

G

vacuolar protein sorting 36 homolog

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr25:150,984...191,531
Ensembl chr25:150,150...191,544

G

WD repeat and FYVE domain containing 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr22:304,250...467,909
Ensembl chr22:304,884...428,223

congenital fibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Congenital fibrosarcoma

NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389

G

tumor protein p53

ClinVar Annotator: match by term: Infantile fibrosarcoma

PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

dermatofibrosarcoma protuberans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion
DNA:gene fusion:exon

PMID:12641779 PMID:22153773

RGD:2292195 RGD:5688300

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

desmoplastic/nodular medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr27:8,411,092...8,579,735
Ensembl chr27:8,412,377...8,579,882

G

CCCTC-binding factor

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389

diffuse intrinsic pontine glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 interacting helicase 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 More...

NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

PMID:25741868 PMID:28492532

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:28492532

NCBI chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:28492532

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

G

FA complementation group A

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:28492532

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

lysine demethylase 5B

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:26740943 PMID:28492532 PMID:29684080 PMID:31882575

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539

NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940

G

ret proto-oncogene

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:22648184 PMID:25741868 PMID:28492532 PMID:28946813 PMID:31159747 More...

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:28492532

NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189

G

tumor protein p53

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tetraspanin 31

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:28492532

NCBI chr10:1,810,047...1,812,702
Ensembl chr10:1,810,159...1,812,692

dysembryoplastic neuroepithelial tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

DNA:mutation:cds:p.V600E(human)

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

embryonal rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:34,621,314...34,735,502
Ensembl chr X:34,621,886...34,645,766

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:26,290,903...28,444,635
Ensembl chr X:26,290,910...28,333,576

G

myogenic differentiation 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:26619011 PMID:26822237

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:25741868 PMID:28492532

NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251

Embryonal Rhabdomyosarcoma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 22 member 18

NCBI chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006

Embryonal Rhabdomyosarcoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2

PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24728327 More...

NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879

Ependymomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BAF chromatin remodeling complex subunit BCL7C

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,305,670...17,354,375
Ensembl chr 6:17,293,776...17,340,526

G

EPH receptor B2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714

G

insulin like growth factor 2

mRNA:increased expression:cerebellum

NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982

G

RAB3A, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr20:44,796,740...44,802,224
Ensembl chr20:44,796,895...44,801,692

G

retbindin

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223

G

SHC adaptor protein 3

DNA:amplification:brain:

NCBI chr 1:97,019,545...97,100,905
Ensembl chr 1:97,019,928...97,094,844

G

zinc finger protein 668

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,157,767...17,166,397
Ensembl chr 6:17,158,384...17,166,174

epithelioid sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

protein:decreased expression:epithelial cell:

NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783

Ewing sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated protein 1

ClinVar Annotator: match by term: Ewing sarcoma

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

CD99 molecule

ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present

NCBI chr X:1,369,316...1,430,527

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Ewing sarcoma

PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 More...

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

G

CDKN1A interacting zinc finger protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,303,189...55,322,429
Ensembl chr 9:55,303,129...55,318,945

G

early growth response 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497

G

EWS RNA binding protein 1

ClinVar Annotator: match by term: Ewing sarcoma

PMID:25741868 PMID:28492532

NCBI chr26:22,578,782...22,608,174
Ensembl chr26:22,578,848...22,608,174

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

PMID:11772151 PMID:16646077 PMID:26214589

NCBI chr 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822

G

lysine demethylase 3A

mRNA:increased expression:bone marrow (human)

NCBI chr17:38,690,962...38,744,507
Ensembl chr17:38,690,979...38,743,739

G

neurofibromin 1

ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor

PMID:7607663 PMID:9385374 PMID:9463322 PMID:10494088 PMID:10607834 More...

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

tetraspanin 31

ClinVar Annotator: match by term: Ewing sarcoma

PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 More...

NCBI chr10:1,810,047...1,812,702
Ensembl chr10:1,810,159...1,812,692

extraosseous Ewing sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ret proto-oncogene

ClinVar Annotator: match by term: Ewing sarcoma of soft tissue

PMID:24336963 PMID:24429398 PMID:24755471 PMID:25256751 PMID:25741868 More...

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

extraskeletal myxoid chondrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear receptor subfamily 4 group A member 3

NCBI chr11:56,806,506...56,846,997
Ensembl chr11:56,812,804...56,847,689

G

TATA-box binding protein associated factor 15

ClinVar Annotator: match by term: TAF15-related condition

PMID:25741868 PMID:28492532

NCBI chr 9:37,842,772...37,873,302
Ensembl chr 9:37,842,772...37,873,094

Familial Cystic Parathyroid Adenomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 73

ClinVar Annotator: match by term: Cystic parathyroid adenoma

NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111

familial glomangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glomulin, FKBP associated protein

ClinVar Annotator: match by term: Familial glomangioma

PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More...

NCBI chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399

familial retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Hereditary retinoblastoma

PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More...

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

fibrillary astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

mRNA:decreased expression:brain

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

fibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

discoidin domain receptor tyrosine kinase 2

ameliorates

DNA:deletion:exons:

NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275

G

early growth response 1

human tumor line expressing mouse gene in mouse model

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

ERCC excision repair 6, chromatin remodeling factor

susceptibility

NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162

G

cell division cycle 42

NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

serpin family E member 1

severity

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

telomerase reverse transcriptase

treatment

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

TNF receptor superfamily member 1A

human gene in mouse model

NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282

glioblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 3

mRNA:increased expression:brain (human)

NCBI chr19:35,097,968...35,133,330
Ensembl chr19:35,098,639...35,169,724

G

adhesion G protein-coupled receptor B1

treatment

mRNA:decreased expression:brain:

PMID:12507886 PMID:16244591

RGD:13831352 RGD:13831355

NCBI chr13:36,627,791...36,649,013
Ensembl chr13:36,614,498...36,690,936

G

adhesion G protein-coupled receptor L4

severity
treatment

PMID:23096411 PMID:27416955

RGD:13838664 RGD:13838665

NCBI chr 6:68,078,481...68,189,422
Ensembl chr 6:68,078,246...68,220,743

G

AKT serine/threonine kinase 1

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

AKT serine/threonine kinase 3

disease_progression

NCBI chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

arrestin beta 2

ameliorates

NCBI chr 5:31,831,208...31,838,875
Ensembl chr 5:31,829,864...31,839,454

G

assembly factor for spindle microtubules

mRNA:increased expression:brain:

NCBI chr 7:5,591,530...5,663,673
Ensembl chr 7:5,590,957...5,660,919

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Glioblastoma

PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 More...

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

ATRX chromatin remodeler

disease_progression

ClinVar Annotator: match by term: Glioblastoma multiforme, somatic

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

BAG cochaperone 3

treatment

NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583

G

beclin 1

disease_progression

NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236

G

basic helix-loop-helix family member e40

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,641,872...12,647,519
Ensembl chr20:12,642,702...12,647,525

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Glioblastoma

PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More...

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:26455392 PMID:27388964

NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608

G

bromodomain containing 7

protein:increased expression:brain:

NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Glioblastoma

PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 More...

NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291

G

chromobox 6

disease_progression

mRNA,protein:decreased expression:astrocyte:

NCBI chr10:25,967,305...25,973,489
Ensembl chr10:25,967,300...25,988,497

G

chromobox 7

disease_progression

mRNA,protein:decreased expression:astrocyte:

NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501

G

chromobox 8

mRNA:increased expression:astrocyte:

NCBI chr 9:1,839,701...1,842,355
Ensembl chr 9:1,839,096...1,843,099

G

cyclin H

CTD Direct Evidence: marker/mechanism

NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315

G

CD9 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576

G

cyclin dependent kinase 4

DNA:amplication

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

G

cyclin dependent kinase 6

severity

CTD Direct Evidence: marker/mechanism

PMID:10884881 PMID:20534551

NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869

G

cyclin dependent kinase inhibitor 2A

treatment

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

chromatin assembly factor 1 subunit B

protein:increased expression:brain:

NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784

G

chitinase 3 like 1

mRNA:increased expression:brain, tumor (human)
CTD Direct Evidence: marker/mechanism

PMID:11161003 PMID:21029458

NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427

G

cytoplasmic polyadenylation element binding protein 1

disease_progression

NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221

G

CREB binding protein

ClinVar Annotator: match by term: Glioblastoma

PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More...

NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

cystatin A

CTD Direct Evidence: marker/mechanism

NCBI chr33:25,477,789...25,489,123
Ensembl chr33:25,478,055...25,489,121

G

cystatin B

CTD Direct Evidence: marker/mechanism

G

catenin delta 2

CTD Direct Evidence: marker/mechanism

NCBI chr34:2,521,730...3,438,218
Ensembl chr34:2,521,724...3,437,292

G

cathepsin B

protein:increased expression:glioma cell (human)
CTD Direct Evidence: marker/mechanism

PMID:17898873 PMID:22287159

NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801

G

cathepsin H

protein:increased expression:brain

NCBI chr 3:58,103,284...58,113,958
Ensembl chr 3:58,103,291...58,113,718

G

cathepsin K

CTD Direct Evidence: marker/mechanism

NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

deuterosome assembly protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:7,209,524...7,334,200
Ensembl chr21:7,209,531...7,334,606

G

deleted in malignant brain tumors 1

DNA:deletion

NCBI chr28:32,198,250...32,286,517
Ensembl chr28:32,219,448...32,286,532

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Glioblastoma

NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902

G

dual specificity phosphatase 6

CTD Direct Evidence: marker/mechanism

NCBI chr15:30,322,472...30,327,221
Ensembl chr15:30,323,697...30,326,508

G

epidermal growth factor

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:+61A>G(human)

PMID:16598420 PMID:22481252

NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic

PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 More...

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

severity

protein:increased expression:brain (human)

NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

treatment

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

fatty acid binding protein 7

severity

mRNA, protein:increased expression:brain (human)

NCBI chr 1:62,084,372...62,088,547
Ensembl chr 1:61,967,129...62,088,547

G

family with sequence similarity 83 member D

CTD Direct Evidence: marker/mechanism

NCBI chr24:27,302,442...27,323,780
Ensembl chr24:27,302,469...27,323,350

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Glioblastoma

NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Glioblastoma

PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

fms related receptor tyrosine kinase 3 ligand

treatment

NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123

G

FOS like 2, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,340,469...22,364,994
Ensembl chr17:22,341,322...22,361,772

G

frataxin

NCBI chr 1:88,288,566...88,311,228
Ensembl chr 1:88,288,566...88,311,228

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714

G

glutamate ionotropic receptor kainate type subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:58,932,754...59,991,305
Ensembl chr12:59,355,017...59,990,408

G

H2A.X variant histone

CTD Direct Evidence: marker/mechanism

NCBI chr 5:14,765,625...14,766,590
Ensembl chr 5:14,766,126...14,766,557

G

H3.3 histone A

ClinVar Annotator: match by term: Glioblastoma

PMID:26619011 PMID:26822237

NCBI chr 7:38,797,168...38,805,417
Ensembl chr 7:38,797,448...38,805,416

G

HEAT repeat containing 1

mRNA, protein:increased expression:brain

NCBI chr 4:3,501,191...3,547,212
Ensembl chr 4:3,501,571...3,547,100

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

homeobox D10

CTD Direct Evidence: marker/mechanism

NCBI chr36:19,924,352...19,927,706
Ensembl chr36:19,916,175...19,927,724

G

HRas proto-oncogene, GTPase

severity

ClinVar Annotator: match by term: Glioblastoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

isocitrate dehydrogenase (NADP(+)) 1

disease_progression
onset

DNA:mutation:cds:p.R132(human)
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic
DNA:mutation:cds:p.R132H(human)

PMID:18772396 PMID:19657110 PMID:19765000 PMID:19798509 PMID:19818334 More...

RGD:11074562 RGD:11522732

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

interleukin 16

protein:increased expression:brain

NCBI chr 3:56,473,485...56,575,504
Ensembl chr 3:56,473,486...56,575,104

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 2

CTD Direct Evidence: therapeutic

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199

G

jagged canonical Notch ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:72,535,539...72,553,531
Ensembl chr 8:72,535,107...72,550,322

G

potassium voltage-gated channel subfamily C member 2

mRNA:splice variant (human)

NCBI chr10:15,599,428...15,822,579
Ensembl chr10:15,643,962...15,818,097

G

kinase insert domain receptor

treatment

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

KRAS proto-oncogene, GTPase

treatment

mRNA:decreased expression:brain

PMID:16166301 PMID:19179066

RGD:13702861 RGD:13702872

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

L1 cell adhesion molecule

mRNA:decreased expression:brain, temporal lobe (human)

NCBI chr X:121,708,695...121,722,819
Ensembl chr X:121,708,894...121,733,365

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Glioblastoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

leucine rich repeat containing 59

CTD Direct Evidence: marker/mechanism

NCBI chr 9:26,350,300...26,364,021
Ensembl chr 9:26,351,734...26,364,082

G

latent transforming growth factor beta binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:113,124,109...113,152,283
Ensembl chr 1:113,124,109...113,150,442

G

leucine zipper like post translational regulator 1

CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)

NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611

G

macrophage immunometabolism regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 3:7,956,865...7,968,964

G

microtubule associated protein 1 light chain 3 alpha

treatment

NCBI chr24:23,672,343...23,673,937
Ensembl chr24:23,633,579...23,673,921

G

mitogen-activated protein kinase kinase 2

treatment

NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641

G

mitogen-activated protein kinase kinase 3

disease_progression

protein:increased expression, increased phosphorylation:brain

NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736

G

MDM2 proto-oncogene

DNA:amplication

NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596

G

MDM4 regulator of p53

CTD Direct Evidence: marker/mechanism

NCBI chr38:1,055,978...1,122,348
Ensembl chr38:1,056,109...1,107,166

G

mediator complex subunit 12

ClinVar Annotator: match by term: Glioblastoma

NCBI chr X:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism
DNA:transition:cds:p.L84F (human)

PMID:14669534 PMID:20131314 PMID:22162573

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

microRNA mir-21

ameliorates

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

microRNA mir-31

RNA:decreased expression:brain (human)

NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503

G

matrix metallopeptidase 2

severity

protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism

PMID:7616276 PMID:16598420

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 7

severity

protein:increased expression:brain (human)

NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153

G

matrix metallopeptidase 9

severity
treatment

protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism

PMID:7616276 PMID:12439751 PMID:16598420

RGD:7207145 RGD:8547973

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

mutS homolog 2

ClinVar Annotator: match by term: Glioblastoma

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Glioblastoma

PMID:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 More...

NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Glioblastoma

NCBI chr17:11,720,857...11,724,308

G

nuclear receptor corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:39,687,530...39,837,003
Ensembl chr 5:39,687,543...39,836,464

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382

G

NDRG family member 4

mRNA, protein:decreased expression:brain

NCBI chr 2:58,144,113...58,160,885
Ensembl chr 2:58,144,105...58,183,470

G

N-terminal EF-hand calcium binding protein 3

disease_progression

NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

NFKB inhibitor alpha

treatment

human cell line in a mouse model

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Glioblastoma

PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More...

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

platelet derived growth factor subunit B

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

G

platelet derived growth factor receptor beta

treatment

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

podoplanin

NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375

G

platelet and endothelial cell adhesion molecule 1

NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778

G

placental growth factor

disease_progression

NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Glioblastoma

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

disease_progression

PMID:21188471 PMID:26956052

RGD:11343921 RGD:13782050

NCBI chr23:34,832,661...34,955,410
Ensembl chr23:34,836,540...34,993,939

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

disease_progression

NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Glioblastoma

PMID:19962457 PMID:25157968 PMID:26619011

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

G

Pim-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,213,504...6,217,933
Ensembl chr12:6,211,867...6,217,933

G

PML nuclear body scaffold

CTD Direct Evidence: marker/mechanism

NCBI chr30:37,232,337...37,278,434
Ensembl chr30:37,232,306...37,277,741

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Glioblastoma

PMID:25228659 PMID:26619011 PMID:27573199 PMID:28492532 PMID:29352080

NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917

G

DNA polymerase kappa

CTD Direct Evidence: marker/mechanism

NCBI chr 3:30,793,893...30,860,240
Ensembl chr 3:30,712,571...30,859,106

G

protection of telomeres 1

ClinVar Annotator: match by term: Glioblastoma, somatic

NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956

G

peroxisome proliferator activated receptor gamma

ClinVar Annotator: match by term: Glioblastoma, somatic

PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 More...

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

parkin RBR E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764

G

prominin 1

CTD Direct Evidence: marker/mechanism

PMID:18679414 PMID:18829568 PMID:19718438

NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Glioblastoma

PMID:1336932 PMID:1945792 PMID:9140396 PMID:9241266 PMID:9259288 More...

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prostaglandin-endoperoxide synthase 1

disease_progression

protein:increased expression:microglia, macrophage,

PMID:10229132 PMID:11121536

RGD:5688245 RGD:5688250

NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:endothelial cell

PMID:10229132 PMID:11121536

RGD:5688245 RGD:5688250

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294

G

pleiotrophin

protein:increased expression:brain (human)

NCBI chr16:11,283,078...11,382,820
Ensembl chr16:11,283,077...11,382,814

G

protein tyrosine phosphatase receptor type B

treatment

human cells in mouse model
protein:increased expression:brain (human)

PMID:14692702 PMID:15831233 PMID:16489031

RGD:151660504 RGD:151660507 RGD:151664746

NCBI chr10:12,267,891...12,384,522
Ensembl chr10:12,241,716...12,384,435

G

RB transcriptional corepressor 1

severity

DNA:hypermethylation:promoter:

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

reversion inducing cysteine rich protein with kazal motifs

CTD Direct Evidence: therapeutic

NCBI chr11:52,519,303...52,607,753
Ensembl chr11:52,519,317...52,607,217

G

ribosomal protein L35a

mRNA:increased expression:brain (human)

NCBI chr33:28,741,796...28,745,043
Ensembl chr33:28,741,819...28,744,672

G

ribosomal protein L5

DNA:mutations:multiple (human)

NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

G

septin 14

CTD Direct Evidence: marker/mechanism

NCBI chr18:25,103,092...25,201,880
Ensembl chr18:25,121,175...25,202,140

G

serpin family G member 1

treatment

NCBI chr18:38,570,354...38,580,751
Ensembl chr18:38,570,607...38,581,665

G

solute carrier family 22 member 10

CTD Direct Evidence: marker/mechanism

NCBI chr18:53,597,148...53,628,569
Ensembl chr18:53,597,533...53,628,165

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

SLX4 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Glioblastoma multiforme

NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190

G

serrate, RNA effector molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,881,171...8,893,504
Ensembl chr 6:8,881,176...8,892,963

G

signal transducer and activator of transcription 3

disease_progression

mRNA, protein:increased expression:brain (human)

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

signal transducer and activator of transcription 5A

treatment
disease_progression

human cells in mouse model
mRNA, protein:increased expression:brain (human)

NCBI chr 9:20,616,041...20,638,523
Ensembl chr 9:20,617,151...20,638,103

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645

G

testin LIM domain protein

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,217,768...55,240,668
Ensembl chr14:55,177,375...55,240,668

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16170020 PMID:17099729

NCBI chr24:26,631,339...26,662,723
Ensembl chr24:26,628,009...26,663,840

G

transmembrane protein 135

CTD Direct Evidence: marker/mechanism

NCBI chr21:12,410,128...12,698,099
Ensembl chr21:12,411,826...12,637,912

G

tenascin C

NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060

G

tumor protein p53

ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic

PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 PMID:1467311 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tumor protein p53 binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr30:10,263,650...10,362,646
Ensembl chr30:10,263,650...10,336,134

G

tRNA methyltransferase 11 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:64,861,404...64,917,449
Ensembl chr 1:64,834,770...65,064,562

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

G

X-ray repair cross complementing 1

susceptibility

DNA:SNP:exon 10: p.R399Q (human)

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

G

zinc finger and BTB domain containing 7A

CTD Direct Evidence: marker/mechanism

NCBI chr20:55,517,531...55,527,071
Ensembl chr20:55,505,916...55,523,736

glioblastoma proneural subtype

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

RNA:decreased expression:brain:

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

gliosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

severity

mouse gene in a rat model

NCBI chr 9:39,008,187...39,009,932

G

cytochrome P450 2B11

CTD Direct Evidence: therapeutic

PMID:9766669 PMID:11389073

NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293

G

cytochrome P450 2C21

CTD Direct Evidence: therapeutic

NCBI chr28:8,727,010...8,750,427
Ensembl chr28:8,727,019...8,750,587

G

plasminogen activator, urokinase

severity

mouse gene in rat model

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

cytochrome p450 oxidoreductase

CTD Direct Evidence: therapeutic

NCBI chr 6:7,247,780...7,316,282
Ensembl chr 6:7,263,574...7,316,297

G

prostaglandin-endoperoxide synthase 1

protein:increased expression:microglia, macrophage,

NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:endothelial cell

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

glomangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glomulin, FKBP associated protein

ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations

PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More...

NCBI chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399

glomus tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glomulin, FKBP associated protein

glomuvenous malformations

NCBI chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399

hemangiopericytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

delta like canonical Notch ligand 4

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940

G

EPH receptor B4

mRNA,protein:decreased expression:anterior temporal lobe

NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324

G

hes family bHLH transcription factor 1

mRNA:increased expression:anterior temporal lobe

G

hes related family bHLH transcription factor with YRPW motif 1

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

hes related family bHLH transcription factor with YRPW motif 2

mRNA:increased expression:anterior temporal lobe

NCBI chr 1:64,630,656...64,646,546

G

kinase insert domain receptor

mRNA:increased expression:anterior temporal lobe

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

notch receptor 1

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

notch receptor 4

mRNA,protein:increased expression:anterior temporal lobe

NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760

G

phosphatase and tensin homolog

protein:decreased expression:anterior temporal lobe

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

hepatic angiomyolipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TSC complex subunit 2

DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple

PMID:22251200 PMID:29512829

RGD:21079730 RGD:21079732

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

high grade ependymoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Malignant ependymoma

PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 More...

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Malignant ependymoma

PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More...

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

high grade glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1

ClinVar Annotator: match by term: Brainstem glioma

PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 More...

NCBI chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652

G

adhesion G protein-coupled receptor A2

ClinVar Annotator: match by term: Ependymoma

NCBI chr16:27,547,722...27,583,069
Ensembl chr16:27,549,308...27,583,070

G

AKT serine/threonine kinase 2

protein:increased expression:cytoplasm (human)

NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131

G

angiomotin like 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:6,109,600...6,280,025
Ensembl chr21:6,109,683...6,256,060

G

angiopoietin 2

protein:increased expression:brain (rat)

NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701

G

apolipoprotein D

CTD Direct Evidence: marker/mechanism

NCBI chr33:30,490,149...30,504,804
Ensembl chr33:30,488,135...30,509,289

G

A-Raf proto-oncogene, serine/threonine kinase

disease_progression

NCBI chr X:41,180,082...41,191,579
Ensembl chr X:41,180,250...41,191,310

G

amphiregulin

NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:5,398,833...5,690,041
Ensembl chr 5:5,380,831...5,686,840

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104

G

ADP ribosylation factor like GTPase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,169,225...52,175,782

G

assembly factor for spindle microtubules

disease_progression

mRNA:increased expression:brain:

NCBI chr 7:5,591,530...5,663,673
Ensembl chr 7:5,590,957...5,660,919

G

activating transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:106,631,711...106,636,477
Ensembl chr 1:106,632,353...106,636,502

G

autophagy related 2A

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,258,070...52,277,953
Ensembl chr18:52,258,187...52,277,965

G

autophagy related 7

treatment

NCBI chr20:6,916,354...7,154,849
Ensembl chr20:6,916,515...7,154,800

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Malignant glioma

PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More...

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504

G

ATRX chromatin remodeler

DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism

PMID:23104868 PMID:23583981 PMID:24705251

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

BCL2 associated agonist of cell death

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405

G

BTG3 associated nuclear protein

ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:65,151,863...65,256,782
Ensembl chr 5:65,152,247...65,256,667

G

BRCA1 associated protein 1

ClinVar Annotator: match by term: Astrocytoma

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

BarH like homeobox 1

protein:increased expression:brain:

NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093

G

basic leucine zipper ATF-like transcription factor 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,176,681...52,196,365
Ensembl chr18:52,175,549...52,195,404

G

brevican

severity

protein:increased expression:brain:

PMID:11585735 PMID:12799382 PMID:16061654 PMID:23253190

RGD:14392782 RGD:14392783 RGD:14392797 RGD:14392804

NCBI chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178

G

bradykinin receptor B2

mRNA:increased expression:brain

NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407

G

baculoviral IAP repeat containing 5

protein:increased expression:brain

NCBI chr 9:2,930,308...2,959,307

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Brainstem glioma

PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More...

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

BRCA2 DNA repair associated

susceptibility

ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3

PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 More...

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

bromodomain containing 7

protein:increased expression:brain:

NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799

G

complement C3

treatment

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Malignant glioma

PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More...

NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291

G

calcium voltage-gated channel auxiliary subunit gamma 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr10:27,750,314...27,862,646
Ensembl chr10:27,750,935...27,862,885

G

calcium/calmodulin dependent protein kinase II alpha

disease_progression

NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830

G

calcium/calmodulin dependent protein kinase II beta

disease_progression

G

calcium/calmodulin dependent protein kinase kinase 2

disease_progression

NCBI chr26:7,848,191...7,895,317
Ensembl chr26:7,847,466...7,893,410

G

calpain 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

catsper channel auxiliary subunit zeta

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,763,714...52,766,857

G

caveolin 1

NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935

G

caveolin 2

NCBI chr14:55,437,622...55,445,481
Ensembl chr14:55,437,622...55,445,469

G

coiled-coil domain containing 88B

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,722,197...52,737,023
Ensembl chr18:52,708,838...52,736,728

G

cellular communication network factor 1

exacerbates

human cells in mouse model

NCBI chr 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994

G

cyclin D1

susceptibility
disease_progression

PMID:21844184 PMID:22304571

RGD:13681930 RGD:13702091

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255

G

CD40 molecule

treatment

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

CD80 molecule

NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380

G

CDC42 binding protein kinase gamma

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,319,363...52,338,531
Ensembl chr18:52,319,453...52,337,203

G

CDC42 effector protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,854,975...51,863,594
Ensembl chr18:51,857,367...51,858,011

G

cell division cycle associated 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,115,081...52,129,223
Ensembl chr18:52,115,203...52,120,817

G

cyclin dependent kinase 4

disease_progression

PMID:21844184 PMID:23761023

RGD:13702090 RGD:13702091

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

G

cyclin dependent kinase 6

severity

DNA:amplification:

PMID:9102208 PMID:22736304

RGD:13702093 RGD:13702094

NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869

G

cyclin dependent kinase inhibitor 1A

treatment
severity

DNA:hypermethylation:promoter:

PMID:9144534 PMID:18791688 PMID:20844987

RGD:13702125 RGD:13702128 RGD:13702129

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

cyclin dependent kinase inhibitor 2A

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:deletions

PMID:11314047 PMID:15814359 PMID:19578367

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cyclin dependent kinase inhibitor 2B

CTD Direct Evidence: marker/mechanism

PMID:19578366 PMID:19578367

NCBI chr11:41,259,627...41,264,832

G

chromatin assembly factor 1 subunit A

susceptibility

DNA:SNP:intron:rs243356(human)

NCBI chr20:55,248,286...55,276,425
Ensembl chr20:55,248,288...55,276,900

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:brain:

NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784

G

checkpoint kinase 2

ClinVar Annotator: match by term: Astrocytoma

PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More...

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

chitinase 3 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427

G

chloride voltage-gated channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621

G

chloride voltage-gated channel 3

CTD Direct Evidence: marker/mechanism

NCBI chr25:20,528,708...20,616,687
Ensembl chr25:20,528,699...20,615,070

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,705,789...42,860,701
Ensembl chr X:42,704,627...42,853,812

G

contactin 2

severity

mRNA, protein:increased expression:brain (human)

NCBI chr38:1,570,598...1,600,524
Ensembl chr38:1,576,898...1,596,621

G

cytochrome c oxidase subunit VIIIA (ubiquitous)

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,048,902...53,050,528
Ensembl chr18:53,048,902...53,050,528

G

ciliogenesis and planar polarity effector complex subunit 1

ClinVar Annotator: match by term: Astrocytoma

PMID:25741868 PMID:28492532

NCBI chr 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267

G

colony stimulating factor 1

NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371

G

cathepsin B

NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801

G

C-X-C motif chemokine receptor 3

NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582

G

cytochrome P450 family 2 subfamily E member 1

DNA:snp:promoter:c.-1053C>T (human)

NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754

G

decorin

disease_progression

NCBI chr15:31,833,492...31,887,699
Ensembl chr15:31,833,746...31,877,417

G

doublecortin

treatment
disease_progression

PMID:17178868 PMID:19681167 PMID:21477071

RGD:12904748 RGD:12904754 RGD:12904761

NCBI chr X:84,408,762...84,541,157
Ensembl chr X:84,408,895...84,517,827

G

discoidin domain receptor tyrosine kinase 1

severity

mRNA, protein:increased expression:brain (human)

NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543

G

DEP domain containing 5, GATOR1 subcomplex subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr26:24,629,369...24,754,728
Ensembl chr26:24,630,295...24,754,256

G

MHC class I DLA-88

CTD Direct Evidence: marker/mechanism

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

G

delta like non-canonical Notch ligand 1

NCBI chr 8:68,961,975...68,970,106
Ensembl chr 8:68,961,744...68,972,761

G

delta like canonical Notch ligand 4

ameliorates

NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940

G

Dmx like 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:8,435,939...8,563,525
Ensembl chr11:8,436,322...8,561,550

G

DnaJ heat shock protein family (Hsp40) member C4

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,825,099...52,829,069
Ensembl chr18:52,825,100...52,831,523

G

double PHD fingers 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087

G

E2F transcription factor 3

disease_progression

NCBI chr35:19,012,646...19,086,674
Ensembl chr35:19,012,324...19,083,634

G

EGF containing fibulin extracellular matrix protein 1

protein:increased expression:brain:

NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187

G

elongation factor like GTPase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:55,720,949...55,840,873
Ensembl chr 3:55,711,048...55,840,888

G

epidermal growth factor

susceptibility

DNA:polymorphism:promoter:GG genotypes were associated with increased risk.
DNA:polymorphism:promoter:+61A>G(human)

PMID:17473192 PMID:22106858

RGD:13702473 RGD:13702474

NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295

G

epidermal growth factor receptor

treatment

ClinVar Annotator: match by term: Brainstem glioma

PMID:10616092 PMID:17177598 PMID:26619011

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

EH domain binding protein 1 like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315

G

EH domain containing 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,291,304...52,312,787
Ensembl chr18:52,291,327...52,311,526

G

ectonucleoside triphosphate diphosphohydrolase 2

NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452

G

EPH receptor A5

ClinVar Annotator: match by term: Astrocytoma

NCBI chr13:56,054,247...56,402,583
Ensembl chr13:56,058,800...56,383,301

G

erythropoietin

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

erythropoietin receptor

NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Glioma susceptibility 1

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

DNA:snp:3'utr:c.8092C>A (human) (rs3212986)

NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125

G

ERCC excision repair 5, endonuclease

susceptibility

DNA:SNP:cd: p.D1558H (rs17655) (human)

NCBI chr22:52,339,011...52,372,618

G

estrogen related receptor alpha

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,755,547...52,762,938
Ensembl chr18:52,756,344...52,763,355

G

coagulation factor II, thrombin

treatment

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

family with sequence similarity 107 member A

CTD Direct Evidence: marker/mechanism

NCBI chr20:32,047,132...32,099,815
Ensembl chr20:32,047,625...32,097,585

G

family with sequence similarity 89 member B

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,632,509...51,634,218
Ensembl chr18:51,632,781...51,634,034

G

Fas cell surface death receptor

severity

mouse gene in a rat model

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

FAU ubiquitin like and ribosomal protein S30 fusion

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,072,705...52,074,337
Ensembl chr18:52,072,796...52,074,336

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

FERM domain containing kindlin 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667

G

fibroblast growth factor 2

CTD Direct Evidence: therapeutic

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma

PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More...

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

fibronectin leucine rich transmembrane protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,926,735...52,958,089
Ensembl chr18:52,927,572...52,929,659

G

fms related receptor tyrosine kinase 3 ligand

treatment

NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708

G

FERM domain containing 8

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,782,664...51,807,343
Ensembl chr18:51,784,413...51,806,874

G

ferritin heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:54,466,167...54,468,733
Ensembl chr18:54,466,023...54,468,732

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714

G

gap junction protein alpha 1

NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936

G

galactosidase beta 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191

G

glycoprotein hormone subunit alpha 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,211,748...52,244,591
Ensembl chr18:52,211,716...52,240,823
Ensembl chr18:52,211,716...52,240,823

G

G protein-coupled receptor 137

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,776,857...52,781,050
Ensembl chr18:52,776,858...52,779,783

G

glutathione S-transferase mu 3

DNA: deletion: intron 6

NCBI chr 6:42,187,869...42,191,274
Ensembl chr 6:42,187,967...42,191,273

G

glutathione S-transferase pi 1

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:p.I105V (rs1695) (human)

PMID:15006924 PMID:16899598

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

H3.3 histone A

ClinVar Annotator: match by term: Brainstem glioma

NCBI chr 7:38,797,168...38,805,417
Ensembl chr 7:38,797,448...38,805,416

G

histone deacetylase 3

disease_progression

mRNA,protein:increased expression:brain:
ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682

G

helicase, lymphoid specific

severity

NCBI chr28:8,660,866...8,705,570
Ensembl chr28:8,661,008...8,705,580

G

hepatocyte growth factor

disease_progression

protein:increased expression:brain:

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

high mobility group box 1

treatment

NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr36:19,913,064...19,926,868
Ensembl chr36:19,914,431...19,916,766

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062

G

heat shock protein family A (Hsp70) member 5

protein:increased expression

NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257

G

isocitrate dehydrogenase (NADP(+)) 1

susceptibility

ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Brainstem glioma

PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 More...

NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496

G

interferon gamma

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

insulin like growth factor 1

severity

protein:increased expression:serum:

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

insulin like growth factor 1 receptor

DNA: SNP: : rs2272037 or rs2016347

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

insulin like growth factor binding protein 3

severity

protein:increased expression:serum:

NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392

G

interleukin 10

susceptibility

DNA:SNP: :rs1800896 (human)

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 12A

CTD Direct Evidence: therapeutic

NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550

G

interleukin 12B

CTD Direct Evidence: therapeutic

NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228

G

interleukin 18

treatment

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 2

treatment

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 4

treatment

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 7

NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737

G

ISG15 ubiquitin like modifier

CTD Direct Evidence: marker/mechanism

NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Ependymoma

NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825

G

potassium two pore domain channel subfamily K member 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,767,151...52,775,053
Ensembl chr18:52,767,414...52,773,369

G

potassium two pore domain channel subfamily K member 7

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,609,373...51,613,802
Ensembl chr18:51,610,746...51,613,675

G

lysine demethylase 5B

disease_progression

NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386

G

kinase insert domain receptor

severity
disease_progression

PMID:10506722 PMID:20501615

RGD:5684393 RGD:5684425

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

kelch like family member 21

ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:60,415,493...60,427,301
Ensembl chr 5:60,413,552...60,427,609

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Astrocytoma

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

G

KRAS proto-oncogene, GTPase

severity

PMID:19435821 PMID:22207524

RGD:13702477 RGD:13702860

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

kringle containing transmembrane protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 6:38,214,853...38,218,679
Ensembl chr 6:38,215,221...38,218,299

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136

G

galectin 3

disease_progression

NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705

G

DNA ligase 4

DNA:SNP: :rs1805388 (human)

NCBI chr22:56,980,333...56,987,636
Ensembl chr22:56,980,622...56,983,357

G

phosphatidylinositol 3-kinase regulatory subunit gamma

treatment

NCBI chr15:14,222,059...14,357,200
Ensembl chr15:14,235,824...14,353,832

G

GON-4-like protein

ClinVar Annotator: match by term: Ependymoma

NCBI chr 7:41,927,667...42,000,649

G

lymphotoxin alpha

treatment

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433

G

mono-ADP ribosylhydrolase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,883,335...53,033,490
Ensembl chr18:52,883,362...53,162,034

G

mitogen-activated protein kinase kinase 1

NCBI chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479

G

mitogen-activated protein kinase kinase kinase 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,593,641...51,609,245
Ensembl chr18:51,594,274...51,608,696

G

mitogen-activated protein kinase kinase kinase kinase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,353,606...52,367,065
Ensembl chr18:52,353,232...52,366,712

G

mitogen-activated protein kinase kinase kinase kinase 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr17:31,253,632...31,439,148
Ensembl chr17:31,254,941...31,439,118

G

mitogen-activated protein kinase 3

NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425

G

microtubule affinity regulating kinase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,101,635...53,125,636
Ensembl chr18:53,101,624...53,151,561

G

midkine

CTD Direct Evidence: marker/mechanism

G

menin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:brain, glioma (rat)

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

PMID:16033832 PMID:16899598 PMID:19901110

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

microRNA mir-192

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193

G

marker of proliferation Ki-67

NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486

G

matrix metallopeptidase 2

treatment

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

mitochondrial ribosomal protein L49

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,068,576...52,072,642
Ensembl chr18:52,069,605...52,072,591

G

mutS homolog 2

ClinVar Annotator: match by term: Ependymoma

PMID:11726306 PMID:15849733 PMID:17101317 PMID:25741868 PMID:28492532 More...

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578

G

mechanistic target of rapamycin kinase

severity

NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23583981 PMID:26829751

NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:16,155,867...16,192,814
Ensembl chr29:16,157,821...16,192,808

G

myosin light chain kinase

CTD Direct Evidence: marker/mechanism

NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181

G

N-alpha-acetyltransferase 40, NatD catalytic subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,054,662...53,077,156
Ensembl chr18:53,048,903...53,069,496

G

N-acetylated alpha-linked acidic dipeptidase like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,136,258...52,148,462
Ensembl chr18:52,136,358...52,148,674

G

NAD synthetase 1

susceptibility

NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514

G

NDRG family member 4

disease_progression

protein:decreased expression:brain

NCBI chr 2:58,144,113...58,160,885
Ensembl chr 2:58,144,105...58,183,470

G

N-terminal EF-hand calcium binding protein 3

severity

NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:30,450,946...30,463,280
Ensembl chr 2:30,450,965...30,492,074

G

neurofibromin 1

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:mutations: :

PMID:25119042 PMID:26190195

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

ClinVar Annotator: match by term: Ependymoma

NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196

G

nitric oxide synthase 3

protein:increased expression:blood vessel endothelial cell

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

neurexin 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,439,836...52,537,577
Ensembl chr18:52,439,230...52,536,401

G

neurotrophic receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288

G

neurotrophic receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032

G

neurotrophic receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:51,131,470...51,491,112
Ensembl chr 3:51,138,751...51,513,024

G

nudix hydrolase 22

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,828,973...52,831,550
Ensembl chr18:52,829,015...52,831,787

G

OTU deubiquitinase, ubiquitin aldehyde binding 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 3:40,225,531...40,226,507
Ensembl chr 3:40,225,474...40,226,612
Ensembl chr18:40,225,474...40,226,612

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:42,079,396...42,109,129
Ensembl chr X:42,081,561...42,108,612

G

POZ/BTB and AT hook containing zinc finger 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr26:24,277,719...24,296,440
Ensembl chr26:24,278,802...24,296,154

G

protein-L-isoaspartate (D-aspartate) O-methyltransferase

mRNA:decreased expression:brain:

NCBI chr 1:40,494,441...40,539,453
Ensembl chr 1:40,494,461...40,538,937

G

pecanex 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,572,004...51,592,811
Ensembl chr18:51,571,452...51,592,104

G

PDGFA associated protein 1

severity

NCBI chr 6:10,178,327...10,189,169
Ensembl chr 6:10,178,354...10,188,627

G

platelet derived growth factor subunit A

in a mouse model

NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396

G

platelet derived growth factor subunit B

severity

PMID:21677873 PMID:26945107 PMID:27448842

RGD:13702895 RGD:13702896 RGD:13702897

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

G

pleckstrin homology like domain family B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:15,090,823...15,138,397
Ensembl chr 5:15,090,813...15,134,784

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Brainstem glioma

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

plasminogen activator, urokinase

severity

protein:increased expression:brain (human)

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

phospholipase C beta 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,793,848...52,809,065
Ensembl chr18:52,793,838...52,809,070

G

polo like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:22,165,338...22,176,847
Ensembl chr 6:22,165,338...22,176,441

G

DNA polymerase alpha 2, accessory subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,875,860...51,904,492
Ensembl chr18:51,875,903...51,904,746

G

protection of telomeres 1

ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9

PMID:25741868 PMID:26467025 PMID:28492532 PMID:32191290 PMID:34193977

NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956

G

POU class 3 homeobox 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:64,427,161...64,428,825
Ensembl chr X:64,427,325...64,428,410

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

G

peroxisome proliferator activated receptor gamma

ClinVar Annotator: match by term: Glioma susceptibility 1

PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 More...

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

protein phosphatase, Mg2+/Mn2+ dependent 1D

CTD Direct Evidence: marker/mechanism

NCBI chr 9:35,856,277...35,914,096
Ensembl chr 9:35,856,765...35,913,884

G

protein phosphatase 1 regulatory inhibitor subunit 14B

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,813,829...52,816,365
Ensembl chr18:52,814,174...52,816,365

G

protein phosphatase 2 regulatory subunit B'beta

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,244,588...52,253,055
Ensembl chr18:52,244,736...52,252,237

G

peroxiredoxin 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,750,977...52,754,432

G

protein kinase C alpha

DNA:gene fusion: :

NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630

G

pleckstrin and Sec7 domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:21,328,491...21,921,378
Ensembl chr16:21,336,642...21,921,460

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2

PMID:792966 PMID:1336932 PMID:7728760 PMID:8980400 PMID:9140396 More...

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Astrocytoma

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

glycogen phosphorylase, muscle associated

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,398,192...52,410,731
Ensembl chr18:52,398,056...52,410,464

G

QKI, KH domain containing RNA binding

CTD Direct Evidence: marker/mechanism

NCBI chr 1:51,800,294...51,956,891
Ensembl chr 1:51,800,309...51,952,714

G

Raf-1 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Glioma

NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090

G

RAS guanyl releasing protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,412,331...52,426,910
Ensembl chr18:52,412,367...52,426,916

G

REST corepressor 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,096,599...53,101,427
Ensembl chr18:53,096,592...53,100,808

G

RELA proto-oncogene, NF-kB subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

ret proto-oncogene

ClinVar Annotator: match by term: Ependymoma

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

G

ring finger protein 43

exacerbates

protein:decreased expression:brain, brainstem (human)

NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313

G

ROS proto-oncogene 1, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:57,555,278...57,677,541
Ensembl chr 1:57,555,989...57,677,761

G

ribosomal protein S6 kinase A4

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,708,849...52,720,561
Ensembl chr18:52,708,838...52,736,728

G

regulator of telomere elongation helicase 1

CTD Direct Evidence: marker/mechanism

PMID:19578366 PMID:19578367

NCBI chr24:47,219,977...47,248,791

G

SAC3 domain containing 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,148,661...52,151,920
Ensembl chr18:52,148,723...52,151,603

G

SCY1 like pseudokinase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090

G

serpin family E member 1

protein:increased expression:plasma

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

SET domain containing 9

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:44,046,549...44,073,781
Ensembl chr 2:44,046,605...44,073,536

G

SET domain bifurcated histone lysine methyltransferase 1

severity

protein:increased expression:brain, cell nucleus (human)

NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551

G

splicing factor 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,380,058...52,393,833
Ensembl chr18:52,380,211...52,393,048

G

SH3 domain containing GRB2 like 1, endophilin A2

disease_progression
severity

protein:increased expression:cytoplasm,white matter:

NCBI chr20:55,279,622...55,311,579
Ensembl chr20:55,279,621...55,311,536

G

SH3 domain and tetratricopeptide repeats 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135

G

signal-induced proliferation-associated 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885

G

sirtuin 2

treatment

NCBI chr 1:114,224,922...114,235,041
Ensembl chr 1:114,224,900...114,234,583

G

solute carrier family 22 member 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,567,074...52,583,574
Ensembl chr18:52,568,396...52,583,844

G

solute carrier family 22 member 12

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,541,820...52,550,037
Ensembl chr18:52,542,497...52,549,655

G

solute carrier family 25 member 45

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,810,842...51,817,230
Ensembl chr18:51,811,039...51,816,094

G

solute carrier family 39 member 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr 9:6,978,031...7,244,985

G

solute carrier family 44 member 1

DNA:gene fusion: :

NCBI chr11:61,120,858...61,313,250
Ensembl chr11:61,120,176...61,312,590

G

solute carrier family 5 member 5

CTD Direct Evidence: therapeutic

NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209

G

solute carrier family 6 member 3

protein:decreased expression

NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742

G

solute carrier family 7 member 5

ameliorates

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

sorting nexin 15

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,152,562...52,165,081
Ensembl chr18:52,152,561...52,165,048

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

SRY-box transcription factor 6

NCBI chr21:38,737,072...39,320,257
Ensembl chr21:38,737,247...39,216,549

G

speedy/RINGO cell cycle regulator family member C

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,020,593...52,061,076
Ensembl chr18:52,020,785...52,022,762

G

sphingosine kinase 1

protein:increased expression:endothelial cell (rat)

NCBI chr 9:4,311,698...4,314,773
Ensembl chr 9:4,311,683...4,314,483

G

spindlin interactor and repressor of chromatin binding

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,169,242...53,185,017
Ensembl chr18:53,174,021...53,185,370

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

sprouty RTK signaling antagonist 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:123,436,201...123,624,816
Ensembl chr X:123,620,920...123,621,786

G

ST6 beta-galactoside alpha-2,6-sialyltransferase 1

treatment

NCBI chr34:19,497,577...19,589,125
Ensembl chr34:19,497,922...19,586,427

G

stress induced phosphoprotein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,854,262...52,868,187
Ensembl chr18:52,854,663...52,868,478

G

stathmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:74,035,462...74,043,352
Ensembl chr 2:74,035,457...74,043,349

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:41,894,623...41,907,854
Ensembl chr X:41,893,045...41,906,403

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388

G

synoviolin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,061,284...52,068,672
Ensembl chr18:52,060,347...52,067,582

G

transcription activation suppressor

ClinVar Annotator: match by term: Ependymoma

NCBI chr20:33,665,231...33,713,264
Ensembl chr20:33,646,000...33,712,936

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:18021753 PMID:19578367

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242

G

tigger transposable element derived 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,827,870...51,829,746
Ensembl chr18:51,828,247...51,829,665

G

transmembrane 7 superfamily member 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390

G

tenascin C

protein:increased expression:brain

NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281

G

tumor necrosis factor

treatment

CTD Direct Evidence: marker/mechanism

PMID:11810046 PMID:22199285

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

PMID:16820965 PMID:19229339

NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496

G

tumor protein p53

ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma

PMID:124622 PMID:1200021 PMID:1359493 PMID:1467311 PMID:1565143 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

TNF receptor associated factor 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 8:70,739,389...70,794,448
Ensembl chr 8:70,739,417...70,790,645

G

tripartite motif containing 29

CTD Direct Evidence: marker/mechanism

NCBI chr 5:13,853,514...13,880,517
Ensembl chr 5:13,853,553...13,880,073

G

tRNA methyltransferase activator subunit 11-2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,754,379...52,755,596
Ensembl chr18:52,754,721...52,755,730

G

transient receptor potential cation channel subfamily M member 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 3:37,860,730...37,949,108
Ensembl chr 3:37,817,339...37,949,108

G

tRNA phosphotransferase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,830,701...52,834,011
Ensembl chr18:52,831,405...52,833,998

G

transient receptor potential cation channel subfamily V member 4

CTD Direct Evidence: marker/mechanism

NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165

G

TSC complex subunit 1

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206

G

VHL binding protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:123,210,965...123,231,847
Ensembl chr X:123,203,722...123,231,091

G

vascular endothelial growth factor B

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,821,348...52,824,649
Ensembl chr18:52,821,365...52,824,655

G

VPS51 subunit of GARP complex

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,083,896...52,106,129
Ensembl chr18:52,083,884...52,106,046

G

XIAP associated factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:30,626,356...30,636,731
Ensembl chr 5:30,626,356...30,637,130
Ensembl chr 5:30,626,356...30,637,130

G

X-box binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:22,162,675...22,168,149
Ensembl chr26:22,163,222...22,168,105

G

X-ray repair cross complementing 1

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP:cd: p.Q399R (rs25487) (human)

PMID:23534771 PMID:25227852

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

G

X-ray repair cross complementing 3

susceptibility

DNA:SNP:cd: p.T241M (rs861539) (Human)

NCBI chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408

G

YEATS domain containing 4

NCBI chr10:11,364,435...11,382,340
Ensembl chr10:11,364,553...11,382,645

G

zinc finger protein like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,110,956...52,114,993
Ensembl chr18:52,110,962...52,114,480

G

zinc finger translocation associated

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:53,233,537...53,236,899
Ensembl chr18:53,196,955...53,236,479

G

zinc finger HIT-type containing 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:52,077,925...52,079,227
Ensembl chr18:52,077,991...52,079,184

G

zinc ribbon domain containing 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:51,634,946...51,636,330
Ensembl chr18:51,634,892...51,637,087

high-grade astrocytoma with piloid features

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protection of telomeres 1

ClinVar Annotator: match by term: High-grade astrocytoma with piloid features

PMID:25741868 PMID:28492532 PMID:32155570

NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956

Hirschsprung Disease Ganglioneuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired like homeobox 2B

ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma

PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More...

NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854

Hyperparathyroidism 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,3-galactosyltransferase 2

ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors

NCBI chr38:5,868,822...5,876,539
Ensembl chr38:5,874,011...5,875,279

G

cell division cycle 73

ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors

PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More...

NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111

IDH-mutant anaplastic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002

NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291

G

epithelial cell adhesion molecule

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr10:49,446,165...49,498,690
Ensembl chr10:49,485,746...49,498,475

G

neurofibromin 1

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

PMID:25741868 PMID:28492532

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

RAD54 like

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr15:14,111,168...14,139,819
Ensembl chr15:14,111,157...14,139,301

infant-type hemispheric glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Infant-type hemispheric glioma

PMID:9609997 PMID:19543972 PMID:21990134 PMID:21990165 PMID:24489791 More...

NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494

Kaposi's sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain PHD finger transcription factor

ClinVar Annotator: match by term: Kaposi sarcoma

NCBI chr 9:12,586,107...12,703,296
Ensembl chr 9:12,590,333...12,703,422

G

fibroblast growth factor receptor 2

mRNA:increased expression:zone of skin (human)

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

G

interleukin 6

ClinVar Annotator: match by term: Kaposi's sarcoma

PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More...

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

treatment

NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141

Kaposiform Hemangioendothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 2

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

G protein subunit alpha 14

ClinVar Annotator: match by term: Kaposiform hemangioendothelioma

PMID:25741868 PMID:27476652

NCBI chr 1:80,992,992...81,178,362
Ensembl chr 1:80,992,863...81,177,674

kidney angiomyolipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mechanistic target of rapamycin kinase

treatment

associated with Tuberous Sclerosis

NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114

leiomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anti-Mullerian hormone receptor type 2

protein:increased expression:myometrium

NCBI chr27:1,788,420...1,795,601
Ensembl chr27:1,789,681...1,795,533

G

cyclin dependent kinase inhibitor 2A

associated with Myometrial Neoplasms;protein:increased expression:myometrium

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

checkpoint kinase 2

ClinVar Annotator: match by term: Leiomyosarcoma

PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More...

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:26,290,903...28,444,635
Ensembl chr X:26,290,910...28,333,576

G

fms related receptor tyrosine kinase 1

severity

Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008)

NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:3,528,818...3,538,533
Ensembl chr12:3,533,102...3,538,533

G

KIT proto-oncogene, receptor tyrosine kinase

Uterine; protein:increased expression:tumor:10/14 tumors (71%)

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

G

mediator complex subunit 12

DNA:missense mutations:cds:

NCBI chr X:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

telomerase reverse transcriptase

mRNA:increased expression:myometrium

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

NCBI chr27:45,739,845...45,814,668

G

5'-3' exoribonuclease 2

mRNA:increased expression:uterus (human)

NCBI chr24:2,042,521...2,128,942
Ensembl chr24:2,042,888...2,128,867

liposarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase 4

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:20601955 PMID:23569312

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

G

fatty acid synthase

CTD Direct Evidence: therapeutic

NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092

G

FUS RNA binding protein

NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178

G

microRNA mir-155

disease_progression

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

YEATS domain containing 4

CTD Direct Evidence: therapeutic

NCBI chr10:11,364,435...11,382,340
Ensembl chr10:11,364,553...11,382,645

localized osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin G1

treatment

human cells in mouse model

NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211

lymphangioleiomyomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase short chain family member 2

protein:increased expression:lung (human)

NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651

G

carnitine palmitoyltransferase 1A

protein:increased expression:lung (human)

NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117

G

estrogen receptor 1

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

glyceraldehyde-3-phosphate dehydrogenase

protein:increased expression:lung (human)

NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385

G

glutaminase

protein:increased expression:lung (human)

NCBI chr37:1,433,640...1,508,347
Ensembl chr37:1,433,398...1,508,146

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

G

jagged canonical Notch ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:72,535,539...72,553,531
Ensembl chr 8:72,535,107...72,550,322

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

treatment

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

matrix metallopeptidase 9

protein:increased expression:serum, plasma

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

nitric oxide synthase 3

protein:increased expression:lung

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

nth like DNA glycosylase 1

ClinVar Annotator: match by term: Lymphangiomyomatosis

PMID:25741868 PMID:28492532

NCBI chr 6:38,899,144...38,904,637
Ensembl chr 6:38,899,126...38,905,622

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Lymphangiomyomatosis

NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503

G

pyruvate kinase M1/2

CTD Direct Evidence: marker/mechanism

NCBI chr30:35,712,853...35,737,643

G

RPTOR independent companion of MTOR complex 2

protein:increased expression:lung (human)

NCBI chr 4:69,903,393...70,013,168
Ensembl chr 4:69,936,379...70,010,566

G

solute carrier family 16 member 1

protein:increased expression:lung (human)

NCBI chr17:62,636,600...62,690,491
Ensembl chr17:62,622,902...62,787,481

G

serum response factor

NCBI chr12:11,664,441...11,673,846
Ensembl chr12:11,664,527...11,671,533

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:lung

NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:lung

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

TSC complex subunit 1

ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis

PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More...

NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677

G

TSC complex subunit 2

ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis

PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More...

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

G

vascular endothelial growth factor D

CTD Direct Evidence: marker/mechanism

NCBI chr X:11,590,097...11,627,199
Ensembl chr X:11,590,089...11,626,486

malignant astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652

G

adhesion G protein-coupled receptor B1

severity

NCBI chr13:36,627,791...36,649,013
Ensembl chr13:36,614,498...36,690,936

G

AKT serine/threonine kinase 1

disease_progression

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

AKT serine/threonine kinase 2

severity

NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131

G

AKT serine/threonine kinase 3

severity

NCBI chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112

G

annexin A1

associated with Tuberous Sclerosis;mRNA:increased expression:brain

NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011

G

androgen receptor

CTD Direct Evidence: marker/mechanism

NCBI chr24:34,713,390...34,731,461
NCBI chr X:51,969,785...52,167,450
Ensembl chr X:51,969,785...52,151,912

G

ATRX chromatin remodeler

disease_progression
severity

PMID:23765250 PMID:24810474

RGD:11040585 RGD:9586026

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

B-Raf proto-oncogene, serine/threonine kinase

onset

CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.V600E(human)
DNA:rearrangement: :

PMID:19794125 PMID:23817572 PMID:25346165

RGD:11069832 RGD:11567238

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

bromodomain containing 7

severity

protein:increased expression:brain:

NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799

G

bone marrow stromal cell antigen 2

severity

NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178

G

cell adhesion molecule 2

severity

protein:decreased expression:brain

NCBI chr31:1,872,005...2,931,942
Ensembl chr31:1,879,585...2,931,452

G

calcium/calmodulin dependent protein kinase II gamma

disease_progression

NCBI chr 4:24,244,063...24,299,362
Ensembl chr 4:24,245,960...24,299,357

G

cyclin D1

severity

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

delta like canonical Notch ligand 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:113,737,662...113,745,936

G

docking protein 2

disease_progression

mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human)

NCBI chr25:35,328,767...35,338,712
Ensembl chr25:35,334,176...35,339,175

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

far upstream element binding protein 1

mRNA:increased expression:brain (human)

NCBI chr 6:68,923,215...68,963,766

G

G3BP stress granule assembly factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:57,541,627...57,585,375
Ensembl chr 4:57,481,908...57,585,241

G

glutathione S-transferase pi 1

susceptibility

DNA:polymorphism:exon:p.A114V (human)

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

hes related family bHLH transcription factor with YRPW motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:64,630,656...64,646,546

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

interleukin 16

protein:increased expression:brain

NCBI chr 3:56,473,485...56,575,504
Ensembl chr 3:56,473,486...56,575,104

G

KIAA1549

CTD Direct Evidence: marker/mechanism

NCBI chr16:9,681,889...9,839,844
Ensembl chr16:9,696,913...9,834,548

G

KRAS proto-oncogene, GTPase

susceptibility

sporadic pilocytic astrocytoma, OMIM:137800 DNA:transversion:CDS:amino acid G13R
DNA:mutation:cds:p.G12D(mouse)
CTD Direct Evidence: marker/mechanism

PMID:16247081 PMID:23817572 PMID:24038521

RGD:13702858 RGD:1600476

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

large tumor suppressor kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609

G

large tumor suppressor kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:17,110,620...17,169,826
Ensembl chr25:17,110,637...17,169,291

G

mitogen-activated protein kinase kinase 3

protein:increased expression, increased phosphorylation:brain

NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

MRE11 homolog, double strand break repair nuclease

severity

mRNA:decreased expression:brain tumor (human)

NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119

G

nuclear receptor coactivator 3

CTD Direct Evidence: marker/mechanism

Ensembl chr24:34,585,305...34,728,674
Ensembl chr24:34,585,305...34,728,674

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382

G

NEDD8 ubiquitin like modifier

NCBI chr 8:4,202,621...4,213,090
Ensembl chr 8:4,202,621...4,213,049

G

neurofibromin 1

protein:decreased expression:brain:
CTD Direct Evidence: marker/mechanism

PMID:10931370 PMID:10973261 PMID:20176786 PMID:23817572

RGD:12743656 RGD:1302542

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

neurotrophic receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032

G

protein-L-isoaspartate (D-aspartate) O-methyltransferase

protein:decreased expression,decreased activity:brain:

NCBI chr 1:40,494,441...40,539,453
Ensembl chr 1:40,494,461...40,538,937

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Astrocytic tumor

PMID:15985475 PMID:18470943 PMID:20186801 PMID:22781091 PMID:23624134 More...

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

TIA1 cytotoxic granule associated RNA binding protein like 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:29,729,246...29,750,703
Ensembl chr28:29,731,950...29,750,229

G

tumor protein p53

susceptibility

DNA:nonsense mutation:cds:
ClinVar Annotator: match by term: Malignant astrocytoma

PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

malignant pleural mesothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated protein 1

disease_progression

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:pleura, lung (human)

NCBI chr 9:2,930,308...2,959,307

G

baculoviral IAP repeat containing 7

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr24:46,950,700...46,956,375
Ensembl chr24:46,952,474...46,955,495

G

cholinergic receptor nicotinic alpha 7 subunit

ameliorates

NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399

G

colony stimulating factor 1 receptor

mRNA:increased expression:peritoneum�� (human)

NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510

G

empty spiracles homeobox 2

exacerbates

mRNA:decreased expression:mesothelium of pleural cavity (human)

NCBI chr28:28,002,966...28,009,955
Ensembl chr28:28,003,710...28,009,035

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

mRNA, protein:increased expression:pleura

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

interleukin 7 receptor

disease_progression

NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300

G

lysine demethylase 6A

mRNA:increased expression:mesothelium of pleural cavity (human)

NCBI chr X:38,745,854...38,964,029
Ensembl chr X:38,745,854...38,959,842

G

microRNA mir-192

miRNA:decreased expression:pleura (human)

NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193

G

microRNA mir-193a

miRNA:decreased expression:pleura (human)

NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542

G

microRNA mir-200b

miRNA:decreased expression:pleura (human)

NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479

G

mutL homolog 1

disease_progression

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

nuclear receptor coactivator 2

ameliorates

protein:increased expression:mesothelium of pleural cavity (human)

NCBI chr29:19,253,849...19,471,640
Ensembl chr29:19,222,842...19,545,371

G

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

disease_progression

DNA:loss of heterozygosity

PMID:26493618 PMID:26928227 PMID:27378628

RGD:11553131 RGD:150429647 RGD:150530638

NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196

G

RAD21 cohesin complex component

NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035

G

SET domain containing 2, histone lysine methyltransferase

disease_progression

DNA:mutations:CDS:multiple (human)

PMID:26928227 PMID:33691361

RGD:150429647 RGD:150520202

NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:pleura

PMID:22199264 PMID:24912849

RGD:151361201 RGD:151660330

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

smoothened, frizzled class receptor

disease_progression

DNA:missense mutations

PMID:23379358 PMID:33209614

RGD:150521620 RGD:150521621

NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033

G

X-linked inhibitor of apoptosis

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr X:95,300,234...95,356,103
Ensembl chr X:95,331,827...95,351,582

medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 3

ClinVar Annotator: match by term: Classic medulloblastoma

NCBI chr 4:12,166,275...12,827,175
Ensembl chr 4:12,167,550...12,827,037

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism
associated with Adenomatous Polyposis Coli;DNA:mutations: :

PMID:7661930 PMID:17238184

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104

G

atonal bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406

G

BRCA1 associated protein 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 More...

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

BRCA2 DNA repair associated

susceptibility

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma

PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 More...

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029

G

bromodomain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:50,290,488...50,322,243
Ensembl chr 9:50,288,240...50,322,127

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:24231268 PMID:31594641

NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608

G

cyclin D1

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cyclin E1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649

G

cyclin dependent kinase 6

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:16314645 PMID:19270706 PMID:23138228

NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869

G

cyclin dependent kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,615,271...55,619,493
Ensembl chr 9:55,615,827...55,620,236

G

CREB binding protein

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More...

NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

catenin beta 1

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma

PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More...

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

DEAD-box helicase 3 X-linked

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr X:35,759,367...35,789,759
Ensembl chr X:35,759,416...35,789,774

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828

G

elongator acetyltransferase complex subunit 1

ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma

PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 More...

NCBI chr11:64,035,667...64,094,402
Ensembl chr11:64,037,506...64,093,819

G

E1A binding protein p300

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

estrogen receptor 2

CTD Direct Evidence: therapeutic

NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More...

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822

G

forkhead box O3

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198

G

G protein-coupled receptor 161

ClinVar Annotator: match by term: Medulloblastoma

PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 More...

NCBI chr 7:30,364,999...30,411,038
Ensembl chr 7:30,366,068...30,407,268

G

HIC ZBTB transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:46,156,909...46,162,849
Ensembl chr 9:46,159,136...46,162,004

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

insulin receptor substrate 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:58,197,016...58,229,026
Ensembl chr22:58,223,387...58,227,535

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252

G

lysine demethylase 4B

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain (human)

NCBI chr20:54,713,900...54,843,991
Ensembl chr20:54,634,121...54,820,816

G

lysine demethylase 4C

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain (human)

NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801

G

L3MBTL histone methyl-lysine binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:24,000,008...24,021,883
Ensembl chr10:24,002,183...24,021,753

G

L3MBTL histone methyl-lysine binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:68,538,014...68,655,173
Ensembl chr 1:68,540,051...68,654,414

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:19270706 PMID:31694585

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

G

MYCL proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr15:2,975,757...3,019,313
Ensembl chr15:3,006,409...3,013,381

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr17:11,720,857...11,724,308

G

non-POU domain containing octamer binding

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

NCBI chr X:55,618,032...55,632,237
Ensembl chr X:55,618,095...55,631,388

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More...

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

orthodenticle homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:32,435,169...32,445,093
Ensembl chr 8:32,435,863...32,445,446

G

platelet derived growth factor receptor alpha

severity

CTD Direct Evidence: marker/mechanism

PMID:19270706 PMID:25576913

NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

CTD Direct Evidence: marker/mechanism

NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141

G

PRAME nuclear receptor transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Medulloblastoma

PMID:26822237 PMID:28492532

NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683

G

protein arginine methyltransferase 5

CTD Direct Evidence: therapeutic

NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456

G

patched 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:16301862 PMID:16419085 PMID:22952776 PMID:25741868 PMID:28492532

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

patched 2

NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234

G

Ras association domain family member 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:28492532

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

ret proto-oncogene

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

PMID:11436122 PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 More...

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

G

S100 calcium binding protein A10

CTD Direct Evidence: marker/mechanism

NCBI chr17:60,984,138...60,994,915

G

S100 calcium binding protein A4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:43,494,007...43,496,021

G

S100 calcium binding protein A6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:43,501,430...43,503,100
Ensembl chr 7:43,501,989...43,541,604

G

secretogranin V

CTD Direct Evidence: marker/mechanism

NCBI chr30:2,261,144...2,315,315
Ensembl chr30:2,261,189...2,315,213

G

Scm polycomb group protein like 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,334,769...14,436,614
Ensembl chr X:14,335,013...14,437,176

G

splicing factor 3b subunit 2

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354

G

S-phase kinase associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

ClinVar Annotator: match by term: Medulloblastoma

PMID:23698369 PMID:26822237 PMID:26842758 PMID:28492532

NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836

G

smoothened, frizzled class receptor

treatment

ClinVar Annotator: match by term: Medulloblastoma

PMID:19726788 PMID:22084163 PMID:22679179 PMID:25759020

NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033

G

SET and MYND domain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,904,089...45,958,466
Ensembl chr 9:45,902,648...45,957,334

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

STE20 related adaptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:11,684,905...11,712,515
Ensembl chr 9:11,684,663...11,712,432

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma

PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More...

NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389

G

tumor protein p53

disease_progression

protein:increased expression:nucleus:
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic

PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

TSC complex subunit 2

DNA:polymorphism:intron

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

G

tubulin beta 4A class IVa

ClinVar Annotator: match by term: Classic medulloblastoma

NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:53,482,239...53,532,399
Ensembl chr20:53,482,498...53,531,296

G

WRN RecQ like helicase

ClinVar Annotator: match by term: Medulloblastoma

PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More...

NCBI chr16:33,164,662...33,304,466
Ensembl chr16:33,167,364...33,304,625

Megalencephaly-Polydactyly Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome

PMID:25741868 PMID:30573562 PMID:37710961

NCBI chr17:11,720,857...11,724,308

melanoma and neural system tumor syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome | ClinVar Annotator: match by term: Melanoma astrocytoma syndrome

PMID:865368 PMID:2677576 PMID:5001868 PMID:7566978 PMID:7640518 More...

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

mesenchymal chondrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

CD99 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr X:1,369,316...1,430,527

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

marker of proliferation Ki-67

CTD Direct Evidence: marker/mechanism

NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486

G

platelet derived growth factor receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278

mixed glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of telomere elongation helicase 1

susceptibility

DNA:SNPs:multiple:multiple (human)

NCBI chr24:47,219,977...47,248,791

myxoid liposarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA damage inducible transcript 3

CTD Direct Evidence: marker/mechanism
DNA:translocation: ;t(12;16)(q13;p11)

PMID:1283316 PMID:7503811 PMID:8510758

NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303

G

FUS RNA binding protein

CTD Direct Evidence: marker/mechanism

PMID:7503811 PMID:8510758

NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178

neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility

PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More...

NCBI chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841

G

arachidonate 5-lipoxygenase activating protein

mRNA, protein:increased expression:neuroblastoma (human)

NCBI chr25:9,320,868...9,351,056
Ensembl chr25:9,320,864...9,351,836

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism
DNA:mutations,loss of heterozygosity: :

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

AT-rich interaction domain 1B

CTD Direct Evidence: marker/mechanism
DNA:deletion,haploinsufficiency: :

NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

PMID:23334666 PMID:26523776

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

aurora kinase A

CTD Direct Evidence: marker/mechanism

NCBI chr24:41,585,483...41,604,875
Ensembl chr24:41,585,518...41,604,791

G

BRCA1 associated RING domain 1

CTD Direct Evidence: marker/mechanism

PMID:19412175 PMID:23334666

NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583

G

baculoviral IAP repeat containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771

G

baculoviral IAP repeat containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Neuroblastoma

PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More...

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

CD44 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107

G

CD55 molecule

NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226

G

cyclin dependent kinase inhibitor 2A

treatment

CTD Direct Evidence: marker/mechanism

PMID:15814359 PMID:24714808

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

chromatin assembly factor 1 subunit A

disease_progression

mRNA:increased expression: :

NCBI chr20:55,248,286...55,276,425
Ensembl chr20:55,248,288...55,276,900

G

chromodomain helicase DNA binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,022,451...60,080,663
Ensembl chr 5:60,025,602...60,081,148

G

chromodomain helicase DNA binding protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr24:29,397,320...29,601,206
Ensembl chr24:29,397,306...29,601,350

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

dopamine beta-hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130

G

dedicator of cytokinesis 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:89,152,456...89,379,203
Ensembl chr 1:89,150,856...89,378,013

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

FA complementation group A

ClinVar Annotator: match by term: Neuroblastoma

PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More...

NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Neuroblastoma

PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More...

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Neuroblastoma

PMID:26822237 PMID:28492532

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657

G

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:62,231,642...62,337,242
Ensembl chr12:62,227,078...62,337,183

G

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:24,140,496...24,143,143
Ensembl chr25:24,141,243...24,152,958

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:15814359 PMID:26121086

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

interferon beta 1

CTD Direct Evidence: therapeutic

NCBI chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855

G

insulin like growth factor 1 receptor

protein: decreased tyrosine phosphorylation: : Y1131

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

insulin like growth factor 2 mRNA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:25,199,287...25,240,693
Ensembl chr 9:25,198,805...25,240,578

G

interleukin 18

susceptibility

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

ISL LIM homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183

G

kinesin family member 1B

susceptibility

ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1

PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 More...

NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

lin-28 homolog B

CTD Direct Evidence: marker/mechanism

PMID:22941191 PMID:23042116

NCBI chr12:62,403,831...62,529,435
Ensembl chr12:62,403,333...62,524,838

G

mitogen-activated protein kinase kinase 4

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296

G

mitogen-activated protein kinase kinase 7

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr20:52,594,450...52,604,236
Ensembl chr20:52,594,536...52,602,150

G

menin 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

mitochondrially encoded cytochrome c oxidase II

CTD Direct Evidence: marker/mechanism

NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717

G

mitochondrial fission process 1

severity

mRNA:increased expression:neural tissue (human)

NCBI chr26:23,565,438...23,568,919
Ensembl chr26:23,565,567...23,568,510

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969

G

MYC proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Neuroblastoma

PMID:25157968 PMID:26619011

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr17:11,720,857...11,724,308

G

non-metastatic cells 1, protein (NM23A) expressed in

NCBI chr 9:26,990,336...26,998,895
Ensembl chr 9:26,990,469...26,998,955

G

neuronatin

CTD Direct Evidence: marker/mechanism

NCBI chr24:26,119,153...26,121,573
Ensembl chr24:26,118,991...26,120,906

G

nodal growth differentiation factor

mRNA:increased expression:neural tissue (human)

NCBI chr 4:21,366,828...21,374,623
Ensembl chr 4:21,367,583...21,375,151

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Neuroblastoma

PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 More...

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

nuclear receptor binding SET domain protein 1

severity

DNA:hypermethylation:promoter:CpG islands (human)

NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999

G

5'-nucleotidase ecto

CTD Direct Evidence: therapeutic

NCBI chr12:45,491,028...45,520,019
Ensembl chr12:45,491,733...45,518,405

G

neurotrophic receptor tyrosine kinase 1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:8433391 PMID:16989911

NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288

G

neurotrophic receptor tyrosine kinase 2

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032

G

p21 (RAC1) activated kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:114,009,573...114,052,100
Ensembl chr 1:114,009,711...114,018,191

G

platelet and endothelial cell adhesion molecule 1

human tumor in mouse model

NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778

G

PHD finger protein 6

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr X:105,044,232...105,093,663
Ensembl chr X:105,043,556...105,091,795

G

paired like homeobox 2B

exacerbates

human cell line in a mouse model
ClinVar Annotator: match by term: Neuroblastoma

NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Neuroblastoma

PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More...

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

PTEN induced kinase 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123

G

PRAME nuclear receptor transcriptional regulator

severity

mRNA:increased expression:neural tissue (human)

NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

proteasome 26S subunit, non-ATPase 14

CTD Direct Evidence: marker/mechanism

NCBI chr36:6,883,612...6,985,291
Ensembl chr36:6,889,622...6,984,974

G

patched 1

ClinVar Annotator: match by term: Neuroblastoma

PMID:25741868 PMID:28492532

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Neuroblastoma

PMID:11704759 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 More...

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

protein tyrosine phosphatase non-receptor type 14

CTD Direct Evidence: marker/mechanism

NCBI chr 7:12,335,327...12,454,992
Ensembl chr 7:12,342,277...12,486,204

G

Ras association domain family member 5

CTD Direct Evidence: marker/mechanism

NCBI chr38:2,783,049...2,849,188
Ensembl chr38:2,783,122...2,847,909

G

RNA binding motif protein 15

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 6:41,645,765...41,653,621
Ensembl chr 6:41,645,769...41,653,799

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

sodium channel epithelial 1 subunit alpha

disease_progression

Low levels of methylation correlate with improved survival

NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Neuroblastoma

PMID:21979946 PMID:25741868 PMID:28492532

NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333

G

semaphorin 3B

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,058,708...39,067,277
Ensembl chr20:39,059,245...39,065,661

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836

G

small nuclear ribonucleoprotein polypeptide E

severity

mRNA:decreased expression:neuroblastoma (human)

NCBI chr38:515,808...521,536
Ensembl chr38:515,860...521,535

G

T-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:35,237,323...35,245,066
Ensembl chr 9:35,235,649...35,245,736

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

tyrosine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060

G

tumor protein p53

ClinVar Annotator: match by term: Neuroblastoma

PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tumor protein p73

no_association

NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839

G

TSC complex subunit 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677

G

TSC complex subunit 2

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251

G

zinc finger protein 276

ClinVar Annotator: match by term: Neuroblastoma

PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More...

NCBI chr 5:63,838,818...63,857,742
Ensembl chr 5:63,838,987...63,857,924

Neuroblastoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired like homeobox 2B

ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2

PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More...

NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854

Neuroblastoma 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

susceptibility

ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 More...

NCBI chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841

G

CAP-Gly domain containing linker protein family member 4

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr17:22,921,455...23,007,104
Ensembl chr17:22,921,488...23,011,839

G

photoreceptor cilium actin regulator

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr17:22,898,998...22,910,639
Ensembl chr17:22,898,998...22,910,639

G

TOG array regulator of axonemal microtubules 2

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr17:22,829,957...22,913,565
Ensembl chr17:22,849,467...22,892,447

G

WD repeat domain 43

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr17:22,769,281...22,813,559
Ensembl chr17:22,769,318...22,812,199

neurofibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase insert domain receptor

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

MAX interactor 1, dimerization protein

ClinVar Annotator: match by term: Neurofibrosarcoma

NCBI chr28:21,584,856...21,655,233
Ensembl chr28:21,584,638...21,652,920

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

vascular endothelial growth factor A

protein:increased expression:peripheral nerve

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

olfactory neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hypoxia inducible factor 1 subunit alpha

severity

protein:increased expression:neuroblastoma (human)

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

oligodendroglioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Oligodendroglioma

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

calcium/calmodulin dependent protein kinase II beta

disease_progression

G

capicua transcriptional repressor

ClinVar Annotator: match by term: Oligodendroglioma

NCBI chr 1:112,081,775...112,105,093
Ensembl chr 1:112,082,265...112,105,082

G

deltex E3 ubiquitin ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:10,469,850...10,502,682

G

epidermal growth factor

susceptibility

DNA:polymorphism:promoter:GG genotypes were associated with increased risk.

NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Oligodendroglioma

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:21446021 More...

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

prostaglandin E synthase 3

protein:increased expression:brain cortex, white matter (human)

NCBI chr10:885,744...903,814
Ensembl chr10:870,392...909,161

G

RB transcriptional corepressor 1

disease_progression

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

optic nerve glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALX homeobox 4

ClinVar Annotator: match by term: Optic nerve glioma

NCBI chr18:44,922,042...44,967,557
Ensembl chr18:44,922,150...44,967,550

G

C-X3-C motif chemokine receptor 1

onset

associated with Neurofibromatosis 1

NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808

G

neurofibromin 1

susceptibility

associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma

PMID:10712197 PMID:16199547 PMID:21278392 PMID:23913538 PMID:25741868 More...

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 12

mRNA,protein:decreased expression:osteoblast:

NCBI chr 1:41,614,893...41,712,350
Ensembl chr 1:41,614,714...41,709,798

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Osteosarcoma, somatic

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Osteosarcoma, somatic

PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:34,621,314...34,735,502
Ensembl chr X:34,621,886...34,645,766

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613

G

BRCA2 DNA repair associated

DNA:nonsense mutation

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608

G

Cbl proto-oncogene

protein:decreased expression:bone

NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956

G

cyclin B3

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,951,030...43,041,616
Ensembl chr X:42,949,558...43,012,122

G

cell division cycle 5 like

DNA:amplification:cds (human)

NCBI chr12:12,779,936...12,822,978
Ensembl chr12:12,780,010...12,822,801

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Osteoblastic osteosarcoma

PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More...

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

checkpoint kinase 2

ClinVar Annotator: match by term: Osteosarcoma, somatic

PMID:3313277 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 More...

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

DNA:deletion (rat)

NCBI chr 1:31,522,911...31,525,342
Ensembl chr 1:31,523,799...31,524,995

G

C-X-C motif chemokine receptor 4

ameliorates

human cells in mouse model

NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

G

cytochrome P450, family 3, subfamily A, polypeptide 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,836,685...9,869,520
Ensembl chr 6:9,777,659...9,869,352

G

discoidin domain receptor tyrosine kinase 1

severity

protein:increased expression:bone (human)
human cells in mouse model

NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543

G

dihydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:26,521,214...26,556,065

G

EGF containing fibulin extracellular matrix protein 2

exacerbates

human EFEMP2 knockdown cell line in a mouse model

NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

early growth response 1

mRNA:decreased expression:tumor (human)

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

eukaryotic translation initiation factor 2 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:41,354,400...41,371,676
Ensembl chr 8:41,351,244...41,371,056

G

ERCC excision repair 1, endonuclease non-catalytic subunit

severity

DNA:silent mutation:cds:p.N118N (human)

NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602

G

estrogen related receptor alpha

CTD Direct Evidence: marker/mechanism

PMID:24967384 PMID:34524571

NCBI chr18:52,755,547...52,762,938
Ensembl chr18:52,756,344...52,763,355

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:14767549 PMID:26265454

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

glutamate metabotropic receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:3,346,395...3,459,722
Ensembl chr12:3,346,395...3,459,878

G

glutathione S-transferase mu 3

NCBI chr 6:42,187,869...42,191,274
Ensembl chr 6:42,187,967...42,191,273

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

histone deacetylase 6

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427

G

hydroxysteroid 17-beta dehydrogenase 10

treatment

NCBI chr X:45,165,272...45,167,683
Ensembl chr X:45,165,272...45,167,574

G

interleukin 3

NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 5:50,966,698...50,968,939

G

potassium voltage-gated channel subfamily H member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,317,804...9,631,144
Ensembl chr 7:9,252,488...9,631,150

G

folate receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr21:25,944,350...25,951,010

G

lysyl oxidase

CTD Direct Evidence: marker/mechanism

NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819

G

leucine zipper and CTNNBIP1 domain containing

NCBI chr 5:63,110,854...63,122,488
Ensembl chr 5:63,113,191...63,122,750

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

microRNA mir-106b

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,498,558...9,498,616
Ensembl chr 6:9,498,558...9,498,616

G

microRNA mir-302b

CTD Direct Evidence: therapeutic

NCBI chr32:32,429,500...32,429,574
Ensembl chr32:32,429,500...32,429,574

G

microRNA mir-494

severity
ameliorates

NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465

G

microRNA mir-93

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,498,780...9,498,840

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

mutS homolog 2

disease_progression

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

mutS homolog 6

disease_progression

NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028

G

macrophage stimulating 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,386,970...39,400,780
Ensembl chr20:39,387,322...39,400,588

G

methylenetetrahydrofolate reductase

treatment

DNA:transition:cds:g.677C>T (human)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:24646477 PMID:34508303

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

G

N-terminal EF-hand calcium binding protein 3

severity

human cells in mouse model
protein:increased expression:bone (human)

NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656

G

nuclear receptor subfamily 1 group I member 2

CTD Direct Evidence: marker/mechanism

NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347

G

pleckstrin homology like domain family A member 2

CTD Direct Evidence: therapeutic

G

PRAME nuclear receptor transcriptional regulator

severity

mRNA:increased expression:muscle tissue (human)

NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112

G

peroxiredoxin 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682

G

polypyrimidine tract binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:57,806,450...57,818,435
Ensembl chr20:57,807,826...57,818,359

G

parathyroid hormone

human protein in rat model

NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967

G

protein tyrosine phosphatase receptor type B

disease_progression

mRNA:decreased expression:bone (human)

NCBI chr10:12,267,891...12,384,522
Ensembl chr10:12,241,716...12,384,435

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Osteosarcoma, somatic

PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 More...

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

replication factor C subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:73,062,292...73,136,576
Ensembl chr 3:73,062,329...73,135,096

G

regulator of G protein signaling 1

CTD Direct Evidence: marker/mechanism

NCBI chr38:6,372,451...6,376,427
Ensembl chr38:6,372,558...6,376,315

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

PMID:24646477 PMID:25307878

NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785

G

serpin family F member 1

treatment

human gene in rat model
human protein in a mouse model

PMID:17458711 PMID:17479108

RGD:8633656 RGD:8655561

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr34:14,853,000...14,855,153

G

TATA-box binding protein associated factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr 9:37,842,772...37,873,302
Ensembl chr 9:37,842,772...37,873,094

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

CTD Direct Evidence: marker/mechanism

NCBI chr11:49,809,156...49,821,224
Ensembl chr11:49,809,465...49,821,075

G

tumor protein p53

ClinVar Annotator: match by term: Osteosarcoma, somatic

PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

G

zinc finger MIZ-type containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:28,807,368...29,035,946
Ensembl chr 4:28,854,908...29,045,986

G

zw10 kinetochore protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:19,496,531...19,527,205
Ensembl chr 5:19,496,611...19,527,200

peripheral osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RecQ like helicase 4

ClinVar Annotator: match by term: High grade surface osteosarcoma

PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More...

NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753

PERITONEAL GLIOMATOSIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc fragment of IgG receptor Ia

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr17:59,073,139...59,102,023
Ensembl chr17:59,092,933...59,102,015

G

H2B clustered histone 18

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr17:59,120,297...59,121,083

G

MHC class II DLA DRB1 beta chain

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr12:2,151,409...2,164,564

pilocytic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

folliculin

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532

NCBI chr 5:42,176,093...42,195,718
Ensembl chr 5:42,176,291...42,195,711

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

neurofibromin 1

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

ret proto-oncogene

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:25741868 PMID:28492532

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More...

NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189

pilomyxoid astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Pilomyxoid astrocytoma

PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 More...

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

Primitive Neuroectodermal Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EWS RNA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:22,578,782...22,608,174
Ensembl chr26:22,578,848...22,608,174

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

G

hes related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

PMS1 homolog 2, mismatch repair system component

CTD Direct Evidence: marker/mechanism

NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033

G

TSC complex subunit 1

ClinVar Annotator: match by term: Primitive neuroectodermal tumor

PMID:16554133 PMID:21309039 PMID:22703879 PMID:23514105 PMID:25077650 More...

NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677

Primitive Peripheral Neuroectodermal Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell adhesion molecule 2

mRNA, protein:decreased expression:retina

NCBI chr31:1,872,005...2,931,942
Ensembl chr31:1,879,585...2,931,452

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

dicer 1, ribonuclease III

exacerbates

DNA:deletion:haploinsufficiency

NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879

G

FA complementation group M

ClinVar Annotator: match by term: Retinoblastoma

NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994

G

Fas cell surface death receptor

severity

protein:decreased expression:tumor (human)

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

interferon beta 1

ameliorates

NCBI chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855

G

integral membrane protein 2B

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 More...

NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433

G

lysine demethylase 1B

mRNA:increased expression:retina (human)

NCBI chr35:16,954,483...17,014,261
Ensembl chr35:16,921,095...17,012,527

G

lysophosphatidic acid receptor 6

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 More...

NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499

G

MYC associated factor X

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr 8:39,441,216...39,465,703
Ensembl chr 8:39,380,686...39,465,959

G

mediator complex subunit 4

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 More...

NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608

G

O-6-methylguanine-DNA methyltransferase

disease_progression

DNA:hypermethylation:promoter (human)

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:SNP::2756A>G(human)

NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 More...

NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539

G

neurofibromin 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

nudix hydrolase 15

ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More...

NCBI chr22:3,416,702...3,424,607
Ensembl chr22:3,416,578...3,424,409

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Retinoblastoma

PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

patched 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 More...

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

serpin family F member 1

treatment

human protein and tumor xenograft in a mouse model

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

G

synuclein gamma

NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842

rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Rhabdomyosarcoma

NCBI chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841

G

angiopoietin 2

protein:increased expression:blood vessel (rat)

NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:12920083 PMID:16287141 PMID:20104584 PMID:21232165 PMID:22923021 More...

NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:8589730 PMID:10188893 PMID:10790213 PMID:11802209 PMID:11920621 More...

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More...

NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956

G

cyclin dependent kinase inhibitor 2A

DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More...

NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:19809159 PMID:24124571

NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

insulin like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

mutS homolog 2

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:8592341 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 More...

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

mutS homolog 6

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 More...

NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028

G

neurofibromin 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:9536098 More...

NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:2440087 PMID:7629132 PMID:10037723 PMID:15077197 PMID:16507833 More...

NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940

G

patched 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:9259288 PMID:9467011 PMID:9856571 PMID:10848731 PMID:10923032 More...

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prothymosin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr25:43,563,145...43,567,987
Ensembl chr25:43,562,395...43,675,699

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 More...

NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 More...

NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333

G

solute carrier family 22 member 18

ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic

PMID:9520460 PMID:25741868

NCBI chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006

G

translocase of inner mitochondrial membrane 10

CTD Direct Evidence: marker/mechanism

NCBI chr18:38,638,277...38,641,623
Ensembl chr18:38,638,696...38,641,623

G

tumor protein p53

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

skeletal muscle cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microRNA mir-222

RNA:increased expression: triceps surae muscle

NCBI chr X:39,524,519...39,524,608
Ensembl chr X:39,524,519...39,524,608

subependymal giant cell astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma

PMID:25741868 PMID:28492532

NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032

synovial sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 apoptosis regulator

CTD Direct Evidence: therapeutic

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

putative protein SSX6

CTD Direct Evidence: marker/mechanism

PMID:9428816 PMID:27572315

NCBI chr X:41,676,082...41,687,062

G

SHC binding and spindle associated 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:8,465,366...8,491,085
Ensembl chr15:8,465,409...8,490,214

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783

G

SS18 subunit of BAF chromatin remodeling complex

CTD Direct Evidence: marker/mechanism

PMID:7951320 PMID:9428816 PMID:27572315

NCBI chr 7:62,490,901...62,571,607
Ensembl chr 7:62,475,290...62,570,234

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

trilateral retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Trilateral retinoblastoma

PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 More...

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

Term paths to the root

Path 1
Term	Annotations
disease	17773
disease of anatomical entity	15145
musculoskeletal system disease	7742
musculoskeletal system cancer	785
connective tissue cancer +	763
muscle cancer +	54
Path 2
Term	Annotations
disease	17773
disease of cellular proliferation	7263
cancer	5267
organ system cancer	5035
musculoskeletal system cancer	785
connective tissue cancer +	763
muscle cancer +	54

paths to the root