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

show annotations for term's descendants Sort by:
Rat (927) Mouse (1063) Human (16824) Chinchilla (776) Bonobo (813) Dog (986) Squirrel (783) Pig (808) Green Monkey (799) Naked Mole-rat (765) All
Genes (831) Strains (3) Cell Lines (93)

adenomatoid tumor

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor associated factor 7

DNA:missense mutations:multiple

RGD

NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203

Adult Cerebral Astrocytoma

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 1

susceptibility

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

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

adult spinal cord ependymoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromodomain helicase DNA binding protein 6

ClinVar Annotator: match by term: Adult spinal cord ependymoma

NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755

AIDS-Related Kaposi Sarcoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

alveolar rhabdomyosarcoma

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790

G

paired box 3

DNA:translocations: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma

CTD
ClinVar
OMIM
RGD

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

NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042

G

paired box 7

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2

OMIM
CTD
ClinVar

PMID:25741868 PMID:31092906 PMID:32214227

NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128

G

WW domain containing transcription regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968

alveolar soft part sarcoma

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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G

ASPSCR1 tether for SLC2A4, UBX domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr10:105,952,215...105,990,059
Ensembl chr10:105,952,227...105,989,904

anaplastic astrocytoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Astrocytoma, anaplastic

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

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

KRAS proto-oncogene, GTPase

mRNA:decreased expression:brain

RGD

NCBI chr 4:178,185,418...178,218,484

G

tumor protein p53

ClinVar Annotator: match by term: Astrocytoma, anaplastic

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

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

anaplastic ependymoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

G

ring finger protein 213

ClinVar Annotator: match by term: Anaplastic ependymoma

NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918

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 chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

anaplastic oligodendroglioma

term browser

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Object Name

Qualifiers

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

capicua transcriptional repressor

ClinVar Annotator: match by term: Anaplastic oligodendroglioma

NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532

angiomyolipoma

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

8-oxoguanine DNA glycosylase

no_association

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

RGD

PMID:19265534 PMID:17932460 PMID:17932460

RGD:8657154, RGD:8657155, RGD:8657155

NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

G

phosphatase and tensin homolog

protein:increased expression:kidney (human)

RGD

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:kidney

RGD

NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:kidney

RGD

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

TSC complex subunit 2

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

RGD

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

astroblastoma

term browser

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RGD Reference(s)

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G

microRNA 542

disease_progression

RGD

NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701

G

phosphoinositide-3-kinase regulatory subunit 1

severity

RGD

PMID:26956052 PMID:26286747

RGD:11343921, RGD:13782052

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

astroblastoma, MN1-altered

term browser

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Object Name

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Evidence

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PubMed Reference(s)

RGD Reference(s)

Position

G

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 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

similar to human chromosome 11 open reading frame 65

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

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

NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748

G

TSC complex subunit 2

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

PMID:25741868 PMID:28492532

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

bone osteosarcoma

term browser

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Object Name

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Evidence

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PubMed Reference(s)

RGD Reference(s)

Position

G

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 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

checkpoint kinase 2

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

EGF containing fibulin extracellular matrix protein 2

exacerbates
disease_progression

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

RGD

PMID:28339091 PMID:27157136

RGD:42722011, RGD:42722013

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

tumor protein p53

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

TSC complex subunit 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:25741868 PMID:26822237

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

brain glioblastoma multiforme

term browser

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eukaryotic translation elongation factor 2

protein:increased expression:brain (human)

RGD

NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183

G

microRNA 139

RNA:decreased expression:brain:

RGD

NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902

G

neural cell adhesion molecule 1

disease_progression

RGD

NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014

G

SUFU negative regulator of hedgehog signaling

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

RGD

NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577

brain glioma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 3A

DNA:deletion

RGD

NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968

G

BCL2 associated X, apoptosis regulator

treatment

RGD

PMID:27255231 PMID:29324390

RGD:13792502, RGD:13792598

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

treatment

RGD

PMID:27255231 PMID:29324390

RGD:13792502, RGD:13792598

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

baculoviral IAP repeat-containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

baculoviral IAP repeat-containing 5

exacerbates

mRNA:increased expression:brain (human)

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

bone marrow stromal cell antigen 2

mRNA,protein:increased expression:brain:

RGD

NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979

G

caspase 3

treatment

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

Fas associated via death domain

treatment

RGD

NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653

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Fas cell surface death receptor

treatment

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

treatment

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

forkhead box A1

disease_progression

RGD

NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188

G

glyceraldehyde-3-phosphate dehydrogenase

RGD

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

G

kinase insert domain receptor

protein:increased expression:brain (human)

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

microRNA 21

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

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

NLR family, apoptosis inhibitory protein 6

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542

G

protein tyrosine phosphatase, receptor type, B

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

RGD

PMID:33900414 PMID:16923162

RGD:151660356, RGD:151660368

NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748

G

vascular endothelial growth factor A

protein:increased expression:brain (human)

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

X-ray repair cross complementing 1

susceptibility

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

RGD

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

G

X-ray repair cross complementing 3

susceptibility

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

RGD

NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444

brain stem glioma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired box 3

mRNA,protein:increased expression:brain stem:

RGD

NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042

G

platelet derived growth factor receptor alpha

severity

RGD

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

Carney Triad

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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 chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535

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 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293

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 chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253

cavernous sinus meningioma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dihydrofolate reductase

ClinVar Annotator: match by term: Cavernous sinus meningioma

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

NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Cavernous sinus meningioma

PMID:21671394 PMID:22126750 PMID:28492532

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

G

mutS homolog 3

ClinVar Annotator: match by term: Cavernous sinus meningioma

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

NCBI chr 2:23,444,326...23,585,777

cerebellar medulloblastoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 6

ClinVar Annotator: match by term: Cerebellar medulloblastoma

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

childhood astrocytic tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of telomere elongation helicase 1

ameliorates
susceptibility

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

RGD

PMID:26014354 PMID:26014354

RGD:152985535, RGD:152985535

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

childhood pilocytic astrocytoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen activated protein kinase 1

protein:increased expression:brain:

RGD

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

chondrosarcoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chitinase 3 like 1

mRNA:increased expression:tumor (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

collagen type II alpha 1 chain

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

CTD
RGD

PMID:23770606 PMID:23770606

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

exostosin glycosyltransferase 1

ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:epiphyseal plate (human)

OMIM
ClinVar
CTD
RGD

PMID:7550340 PMID:8981950 PMID:9521425 PMID:10679937 PMID:11170095 More...

NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357

G

fibroblast growth factor receptor 3

protein:increased expression:growth plate

RGD

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

mechanistic target of rapamycin kinase

disease_progression

RGD

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

TATA-box binding protein associated factor 15

extraskeletal myxoid chondrosarcomas (EMC)

RGD

NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,272,969...68,304,949

chordoid glioma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase C, alpha

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

RGD

NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012

chordoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Chordoma

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

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

MN1 proto-oncogene, transcriptional regulator

ClinVar Annotator: match by term: Chordoma

NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651

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 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

G

T-box transcription factor T

CTD Direct Evidence: marker/mechanism

PMID:19801981 PMID:23064415

NCBI chr 1:52,298,104...52,309,813
Ensembl chr 1:52,298,099...52,305,864

chromosome 13q14 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aconitate decarboxylase 1

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

NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529

G

ALG11, alpha-1,2-mannosyltransferase

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

NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601

G

ADP-ribosylation factor like GTPase 11

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

NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596

G

ATPase copper transporting beta

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

NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636

G

bora, aurora kinase A activator

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

NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322

G

similar to human chromosome 13 open reading frame 42

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

NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211

G

calcium binding protein 39-like

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

NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545

G

coiled-coil domain containing 70

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

NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339

G

cytidine and dCMP deaminase domain containing 1

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

NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576

G

cytoskeleton associated protein 2

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

NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913

G

CLN5, intracellular trafficking protein

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

NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438

G

chondromodulin

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

NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297

G

COMM domain containing 6

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

NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382

G

cysteinyl leukotriene receptor 2

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

NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136

G

dachshund family transcription factor 1

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

NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922

G

diaphanous-related formin 3

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

NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975

G

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

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

NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642

G

deleted in lymphocytic leukemia, 7

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

NCBI chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697

G

EBP like

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

NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472

G

endothelin receptor type B

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

NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115

G

family with sequence similarity 124 member A

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

NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683

G

F-box and leucine-rich repeat protein 3

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

NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867

G

fibronectin type III domain containing 3a

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

NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784

G

integrator complex subunit 6

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

NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527

G

integral membrane protein 2B

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

NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917

G

potassium channel regulator

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

NCBI chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415

G

potassium channel tetramerization domain containing 12

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

NCBI chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282

G

KLF transcription factor 12

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

NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056

G

KLF transcription factor 5

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

NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445

G

kelch-like family member 1

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

NCBI chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594

G

karyopherin subunit alpha 3

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

NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419

G

LIM domain 7

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

NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783

G

lysophosphatidic acid receptor 6

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

NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331

G

mediator complex subunit 4

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

NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820

G

MYC binding protein 2

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

NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498

G

mitotic spindle organizing protein 1

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

NCBI chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589

G

Nedd4 family interacting protein 2

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

NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317

G

NIMA-related kinase 3

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

NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508

G

NIMA-related kinase 5

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

NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429

G

nudix hydrolase 15

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

NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363

G

ORC ubiquitin ligase 1

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

NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734

G

olfactomedin 4

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

NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681

G

protocadherin 17

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

NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999

G

protocadherin 20

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

NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790

G

protocadherin 8

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

NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872

G

protocadherin 9

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

NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538

G

PHD finger protein 11

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

NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009

G

progesterone immunomodulatory binding factor 1

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

NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712

G

POU class 4 homeobox 1

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

NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728

G

proline rich 20E

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

NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140

G

RB transcriptional corepressor 1

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

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

RNA binding motif protein 26

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

NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118

G

RCC1 and BTB domain containing protein 1

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

NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302

G

RCC1 and BTB domain containing protein 2

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

NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750

G

ribonuclease H2, subunit B

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

NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118

G

sciellin

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

NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372

G

serpin family E member 3

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

NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150

G

SET domain bifurcated histone lysine methyltransferase 2

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

NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470

G

SLAIN motif family, member 1

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

NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350

G

SLIT and NTRK-like family, member 1

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

NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509

G

SLIT and NTRK-like family, member 6

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

NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393

G

sprouty RTK signaling antagonist 2

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

NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009

G

SPRY domain containing 7

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

NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509

G

succinate-CoA ligase ADP-forming subunit beta

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

NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138

G

SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

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

NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150

G

TBC1 domain family, member 4

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

NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265

G

tudor domain containing 3

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

NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110

G

thrombospondin type 1 domain containing 1

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

NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504

G

tripartite motif-containing 13

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

NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677

G

ubiquitin C-terminal hydrolase L3

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

NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
Ensembl chr 3:78,485,315...78,527,355

G

vacuolar protein sorting 36 homolog

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

NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810

G

WD repeat and FYVE domain containing 2

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

NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304

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 chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577

G

tumor protein p53

ClinVar Annotator: match by term: Infantile fibrosarcoma

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

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

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

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

RGD

PMID:12641779 PMID:22153773

RGD:2292195, RGD:5688300

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

platelet derived growth factor subunit B

DNA:gene fusion:exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans

CTD
ClinVar
OMIM
RGD

PMID:28492532 PMID:12641779

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

desmoplastic/nodular medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 1A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,237,821...245,256,618
Ensembl chr 1:245,237,826...245,256,495

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512

G

ADP ribosylation factor like GTPase 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820

G

arsenite methyltransferase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872

G

ATP synthase membrane subunit K

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,973,910...245,980,702
Ensembl chr 1:245,973,914...245,980,761
Ensembl chr10:245,973,914...245,980,761

G

BLOC-1 related complex subunit 7

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343

G

similar to human chromosome 10 open reading frame 95

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,210,228...245,212,080
Ensembl chr 1:245,210,973...245,211,602

G

calcium homeostasis modulator 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,030,269...246,032,988
Ensembl chr 1:246,030,269...246,032,988

G

calcium homeostasis modulator family member 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,022,324...246,028,050
Ensembl chr 1:246,022,324...246,028,218

G

calcium homeostasis modulator 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,043,258...246,048,259
Ensembl chr 1:246,043,258...246,048,259

G

cilia and flagella associated protein 43

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443

G

cilia and flagella associated protein 58

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,802,691...246,911,363
Ensembl chr 1:246,802,665...246,911,374

G

cyclin and CBS domain divalent metal cation transport mediator 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632

G

CCCTC-binding factor

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123

G

cytochrome P450, family 17, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573

G

glutathione S-transferase omega 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468

G

glutathione S-transferase omega 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866

G

internexin neuronal intermediate filament protein, alpha

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330

G

inositol 1,4,5-trisphosphate receptor interacting protein

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,762,804...246,786,379
Ensembl chr 1:246,762,472...246,786,408

G

major facilitator superfamily domain containing 13A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,216,610...245,236,314
Ensembl chr 1:245,217,067...245,236,767

G

neuralized E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,066,830...246,152,890
Ensembl chr 1:246,067,100...246,152,903

G

5'-nucleotidase, cytosolic II

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913

G

polycomb group ring finger 6

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,925,354...245,944,964
Ensembl chr 1:245,925,360...245,944,914

G

programmed cell death 11

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,980,840...246,021,999
Ensembl chr 1:245,980,880...246,021,999

G

SWI5-dependent homologous recombination repair protein 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,619,235...246,623,250
Ensembl chr 1:246,597,044...246,623,250

G

sideroflexin 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411
Ensembl chr 1:245,447,015...245,468,411

G

SH3 and PX domains 2A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,153,660...246,359,806
Ensembl chr 1:246,160,502...246,360,166

G

STE20-like kinase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,473,712...246,529,643
Ensembl chr 1:246,473,712...246,526,530

G

sortilin-related VPS10 domain containing receptor 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:247,099,178...247,734,027
Ensembl chr 1:247,099,408...247,734,027

G

STN1 subunit of CST complex

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577

G

TATA-box binding protein associated factor 5

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,958,428...245,973,914
Ensembl chr 1:245,958,428...245,973,914

G

tripartite motif-containing 8

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513

G

WW domain binding protein 1-like

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627

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 chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

PMID:25741868 PMID:28492532

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

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 chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034

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 chr12:59,492...103,789
Ensembl chr12:59,819...100,567

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 chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

FA complementation group A

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

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

isocitrate dehydrogenase (NADP(+)) 1

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

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

lysine demethylase 5B

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

NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872

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:31882575

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

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 chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066

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 chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

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 chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535

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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tetraspanin 31

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

PMID:25741868 PMID:28492532

NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388

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)

RGD

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

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 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

BCL6 co-repressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

myogenic differentiation 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:26619011 PMID:26822237

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:25741868 PMID:28492532

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010

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

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965

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 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163

G

Eph receptor B2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209

G

insulin-like growth factor 2

mRNA:increased expression:cerebellum

RGD

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

RAB3A, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336

G

retbindin

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438

G

SHC adaptor protein 3

DNA:amplification:brain:

RGD

NCBI chr17:13,652,247...13,772,710
Ensembl chr17:13,651,202...13,772,710

G

zinc finger protein 668

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878

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:

RGD

NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620

Ewing sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

CD99 molecule (Xg blood group)

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

NCBI chr20:54,418,239...54,422,882

G

cyclin-dependent kinase 4

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

CDKN1A interacting zinc finger protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762

G

early growth response 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562

G

EWS RNA-binding protein 1

ClinVar Annotator: match by term: Ewing sarcoma
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532 More...

NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

PMID:11772151 PMID:16646077 PMID:26214589

NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433

G

lysine demethylase 3A

mRNA:increased expression:bone marrow (human)

RGD

NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073

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 chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

G

tetraspanin 31

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388

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 chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

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

CTD Direct Evidence: marker/mechanism

NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733

G

TATA-box binding protein associated factor 15

ClinVar Annotator: match by term: TAF15-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:28492532

NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,272,969...68,304,949

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 chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656

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 chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420

familial retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

DNA:mutations:promoter, intron, exon:multiple
ClinVar Annotator: match by term: Hereditary retinoblastoma

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

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

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

RGD

NCBI chr 4:178,185,418...178,218,484

fibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 42

RGD

NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111

G

discoidin domain receptor tyrosine kinase 2

ameliorates

DNA:deletion:exons:

RGD

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

early growth response 1

human tumor line expressing mouse gene in mouse model

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

ERCC excision repair 6, chromatin remodeling factor

susceptibility

RGD

NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

G

serpin family E member 1

severity

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

telomerase reverse transcriptase

treatment

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

TNF receptor superfamily member 1A

human gene in mouse model

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

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)

RGD

NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124

G

adhesion G protein-coupled receptor B1

treatment

mRNA:decreased expression:brain:

RGD

PMID:16244591 PMID:12507886

RGD:13831352, RGD:13831355

NCBI chr 7:106,404,827...106,476,902
Ensembl chr 7:106,404,958...106,476,902

G

adhesion G protein-coupled receptor L4

treatment
severity

RGD

PMID:27416955 PMID:23096411 PMID:23096411

RGD:13838664, RGD:13838665, RGD:13838665

NCBI chr 2:240,354,909...240,457,231
Ensembl chr 2:240,354,941...240,457,225

G

AKT serine/threonine kinase 1

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

AKT serine/threonine kinase 3

disease_progression

RGD

NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

arrestin, beta 2

ameliorates

RGD

NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850

G

assembly factor for spindle microtubules

mRNA:increased expression:brain:

RGD

NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATRX, chromatin remodeler

disease_progression

ClinVar Annotator: match by term: Glioblastoma multiforme, somatic

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

BAG cochaperone 3

treatment

RGD

NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148

G

beclin 1

disease_progression

RGD

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

G

basic helix-loop-helix family, member e40

CTD Direct Evidence: marker/mechanism

NCBI chr 4:141,618,453...141,624,154
Ensembl chr 4:141,618,476...141,624,774

G

baculoviral IAP repeat-containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690

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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

bromodomain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:26455392 PMID:27388964

NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539

G

bromodomain containing 7

protein:increased expression:brain:

RGD

NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748

G

chromobox 6

disease_progression

mRNA,protein:decreased expression:astrocyte:

RGD

NCBI chr 7:111,372,979...111,383,026
Ensembl chr 7:111,372,980...111,383,091

G

chromobox 7

disease_progression

mRNA,protein:decreased expression:astrocyte:

RGD

NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973

G

chromobox 8

mRNA:increased expression:astrocyte:

RGD

NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024

G

cyclin H

CTD Direct Evidence: marker/mechanism

NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819

G

CD9 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222

G

cyclin-dependent kinase 4

DNA:amplication

RGD

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase 6

severity

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20534551 PMID:10884881

NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634

G

cyclin-dependent kinase inhibitor 2A

treatment

RGD

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

treatment

RGD

G

chromatin assembly factor 1 subunit B

protein:increased expression:brain:

RGD

NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070

G

chitinase 3 like 1

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

CTD
RGD

PMID:21029458 PMID:11161003

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

carboxypeptidase E

disease_progression

mRNA, protein:decreased expression:brain tumor (human)

RGD

NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233

G

cytoplasmic polyadenylation element binding protein 1

disease_progression

RGD

NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760

G

CREB binding protein

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

cystatin A

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488

G

cystatin B

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526

G

catenin delta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:81,168,525...82,016,495
Ensembl chr 2:81,167,117...82,015,764

G

cathepsin B

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

CTD
RGD

PMID:22287159 PMID:17898873

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

cathepsin H

protein:increased expression:brain

RGD

NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824

G

cathepsin K

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550

G

deuterosome assembly protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:12,380,300...12,442,649
Ensembl chr 8:12,380,302...12,442,199

G

deleted in malignant brain tumors 1

DNA:deletion

RGD

NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Glioblastoma

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

dual specificity phosphatase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185

G

E2F transcription factor 1

disease_progression

RGD

NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361

G

epidermal growth factor

susceptibility

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

CTD
RGD

PMID:16598420 PMID:22481252

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism
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 chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

severity

protein:increased expression:brain (human)

RGD

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

treatment

RGD

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

fatty acid binding protein 7

severity

mRNA, protein:increased expression:brain (human)

RGD

NCBI chr20:37,123,193...37,126,725
Ensembl chr20:37,123,193...37,126,880

G

family with sequence similarity 83, member D

CTD Direct Evidence: marker/mechanism

NCBI chr 3:147,421,941...147,441,211
Ensembl chr 3:147,421,908...147,441,192

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Glioblastoma

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

Fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

Fms related receptor tyrosine kinase 3 ligand

treatment

RGD

NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

FOS like 2, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034

G

frataxin

RGD

NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209

G

glutamate ionotropic receptor kainate type subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375

G

glutathione S-transferase theta 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

H2A.X variant histone

CTD Direct Evidence: marker/mechanism

NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239

G

H3.3 histone A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma

PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237

NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908

G

HEAT repeat containing 1

mRNA, protein:increased expression:brain

RGD

NCBI chr17:58,053,288...58,093,895
Ensembl chr17:58,051,700...58,093,948

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192

G

hes-related family bHLH transcription factor with YRPW motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

homeo box D10

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725

G

HRas proto-oncogene, GTPase

severity

DNA:missense mutation:cds:p.G61L(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic

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

RGD:13702475, RGD:13702872

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

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:19798509 PMID:19818334 PMID:20946881 More...

RGD:11074562, RGD:11522732

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

interleukin 16

protein:increased expression:brain

RGD

NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 2

CTD Direct Evidence: therapeutic

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

jagged canonical Notch ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818

G

potassium voltage-gated channel subfamily C member 2

mRNA:splice variant (human)

RGD

NCBI chr 7:47,700,035...47,883,979
Ensembl chr 7:47,700,288...47,883,968

G

kinase insert domain receptor

treatment

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

KRAS proto-oncogene, GTPase

treatment

mRNA:decreased expression:brain

RGD

PMID:16166301 PMID:19179066

RGD:13702861, RGD:13702872

NCBI chr 4:178,185,418...178,218,484

G

L1 cell adhesion molecule

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

RGD

NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

leucine rich repeat containing 59

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533

G

latent transforming growth factor beta binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178

G

leucine zipper like post translational regulator 1

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

CTD
RGD

PMID:23917401 PMID:23917401

NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633

G

macrophage immunometabolism regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,420,760...98,440,818
Ensembl chr 9:98,420,376...98,441,733

G

microtubule-associated protein 1 light chain 3 alpha

treatment

RGD

NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670

G

mitogen activated protein kinase kinase 2

treatment

RGD

NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243

G

mitogen activated protein kinase kinase 3

disease_progression

protein:increased expression, increased phosphorylation:brain

RGD

NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492

G

MDM2 proto-oncogene

DNA:amplication

RGD

NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915

G

MDM4 regulator of p53

CTD Direct Evidence: marker/mechanism

NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226

G

mediator complex subunit 12

ClinVar Annotator: match by term: Glioblastoma

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

O-6-methylguanine-DNA methyltransferase

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

CTD
RGD

PMID:20131314 PMID:22162573 PMID:14669534

NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756

G

microRNA 21

ameliorates

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 31

RNA:decreased expression:brain (human)

RGD

NCBI chr 5:103,599,038...103,599,143

G

matrix metallopeptidase 2

severity

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

CTD
RGD

PMID:16598420 PMID:7616276

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 7

severity

protein:increased expression:brain (human)

RGD

NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902

G

matrix metallopeptidase 9

severity
treatment

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

CTD
RGD

PMID:16598420 PMID:7616276 PMID:12439751

RGD:7207145, RGD:8547973

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mutS homolog 2

ClinVar Annotator: match by term: Glioblastoma

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

mechanistic target of rapamycin kinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Glioblastoma

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

G

nuclear receptor co-repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880

G

NDRG family member 4

mRNA, protein:decreased expression:brain

RGD

NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

G

NFKB inhibitor alpha

treatment

human cell line in a mouse model

RGD

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025

G

NRAS proto-oncogene, GTPase

DNA:mutation:cds:c.35G>A, p.G12D(human)
ClinVar Annotator: match by term: Glioblastoma
DNA:amplication::

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

RGD:13702875, RGD:13702876

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

platelet derived growth factor subunit B

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

platelet derived growth factor receptor beta

treatment

RGD

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

podoplanin

RGD

NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656

G

platelet and endothelial cell adhesion molecule 1

RGD

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

placental growth factor

disease_progression

RGD

NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685

G

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

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

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

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

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

disease_progression

RGD

PMID:26956052 PMID:21188471

RGD:11343921, RGD:13782050

NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663

G

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

disease_progression

RGD

NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Glioblastoma

PMID:19962457 PMID:25157968 PMID:26619011

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

Pim-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174

G

PML nuclear body scaffold

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939

G

DNA polymerase kappa

CTD Direct Evidence: marker/mechanism

NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313

G

protection of telomeres 1

ClinVar Annotator: match by term: Glioblastoma, somatic

NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042

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 chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

parkin RBR E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555

G

prominin 1

CTD Direct Evidence: marker/mechanism

PMID:18679414 PMID:18829568 PMID:19718438

NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Glioblastoma

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

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 1

disease_progression

protein:increased expression:microglia, macrophage,

RGD

PMID:11121536 PMID:10229132

RGD:5688245, RGD:5688250

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:endothelial cell

RGD

PMID:11121536 PMID:10229132

RGD:5688245, RGD:5688250

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783

G

pleiotrophin

protein:increased expression:brain (human)

RGD

NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456

G

protein tyrosine phosphatase, receptor type, B

treatment

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

RGD

PMID:16489031 PMID:15831233 PMID:14692702

RGD:151660504, RGD:151664746, RGD:151660507

NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748

G

RB transcriptional corepressor 1

severity

DNA:hypermethylation:promoter:

RGD

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

reversion-inducing-cysteine-rich protein with kazal motifs

CTD Direct Evidence: therapeutic

NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502

G

ribosomal protein L35A

mRNA:increased expression:brain (human)

RGD

NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942
Ensembl chr 5:67,726,032...67,729,942

G

ribosomal protein L5

DNA:mutations:multiple (human)

RGD

NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156

G

septin 14

CTD Direct Evidence: marker/mechanism

NCBI chr12:26,975,283...27,005,588
Ensembl chr12:26,975,344...26,998,299

G

serpin family G member 1

treatment

RGD

NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034

G

solute carrier family 22 member 22

CTD Direct Evidence: marker/mechanism

NCBI chr 7:88,720,425...88,750,111
Ensembl chr 7:88,720,427...88,750,111

G

solute carrier family 7 member 5

disease_progression

RGD

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

G

SLX4 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Glioblastoma multiforme

NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295

G

serrate, RNA effector molecule

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,392,578...19,406,098
Ensembl chr12:19,392,625...19,406,095

G

signal transducer and activator of transcription 3

disease_progression

mRNA, protein:increased expression:brain (human)

RGD

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 5A

disease_progression
treatment

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

RGD

PMID:31783691 PMID:31783691

RGD:151667907, RGD:151667907

NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738

G

testin LIM domain protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:45,365,304...45,403,829
Ensembl chr 4:45,365,285...45,403,829

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16170020 PMID:17099729

NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981

G

transmembrane protein 135

CTD Direct Evidence: marker/mechanism

NCBI chr 1:143,006,343...143,279,824
Ensembl chr 1:143,006,344...143,221,171

G

tenascin C

RGD

NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135

G

tumor protein p53

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

MouseDO
ClinVar

PMID:253702 PMID:960674 PMID:1349175 PMID:1467311 PMID:1565143 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p53 binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822

G

tRNA methyltransferase 11 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:27,054,437...27,109,765
Ensembl chr 1:27,054,420...27,201,610

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

G

X-ray repair cross complementing 1

susceptibility

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

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

G

zinc finger and BTB domain containing 7a

CTD Direct Evidence: marker/mechanism

NCBI chr 7:8,561,015...8,578,243
Ensembl chr 7:8,563,779...8,576,539

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:

RGD

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

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

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

cytochrome P450, family 2, subfamily b, polypeptide 3

CTD Direct Evidence: therapeutic

PMID:9766669 PMID:11389073

NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143

G

cytochrome P450, subfamily 2, polypeptide 11

CTD Direct Evidence: therapeutic

NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066

G

plasminogen activator, urokinase

severity

mouse gene in rat model

RGD

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

cytochrome p450 oxidoreductase

CTD Direct Evidence: therapeutic

NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245

G

prostaglandin-endoperoxide synthase 1

protein:increased expression:microglia, macrophage,

RGD

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:endothelial cell

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420

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

RGD

NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420

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

RGD

NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931

G

EPH receptor B4

mRNA,protein:decreased expression:anterior temporal lobe

RGD

NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314

G

hes family bHLH transcription factor 1

mRNA:increased expression:anterior temporal lobe

RGD

NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192

G

hes-related family bHLH transcription factor with YRPW motif 1

mRNA,protein:increased expression:anterior temporal lobe

RGD

NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312

G

hes-related family bHLH transcription factor with YRPW motif 2

mRNA:increased expression:anterior temporal lobe

RGD

NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218

G

kinase insert domain receptor

mRNA:increased expression:anterior temporal lobe

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

notch receptor 1

mRNA,protein:increased expression:anterior temporal lobe

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

notch receptor 4

mRNA,protein:increased expression:anterior temporal lobe

RGD

NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465

G

phosphatase and tensin homolog

protein:decreased expression:anterior temporal lobe

RGD

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

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

RGD

PMID:29512829 PMID:22251200

RGD:21079730, RGD:21079732

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

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 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

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 chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

high grade glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family B member 1B

RGD

NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199

G

activin A receptor type 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma

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

NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241

G

adhesion G protein-coupled receptor A2

ClinVar Annotator: match by term: Ependymoma

NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483

G

AKT serine/threonine kinase 2

protein:increased expression:cytoplasm (human)

RGD

PMID:19330838 PMID:19330838

RGD:2313297, RGD:2313297

NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817

G

angiomotin-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573

G

angiopoietin 2

protein:increased expression:brain (rat)

RGD

NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804

G

apolipoprotein D

CTD Direct Evidence: marker/mechanism

NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305

G

A-Raf proto-oncogene, serine/threonine kinase

disease_progression

RGD

NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073

G

amphiregulin

RGD

NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Ependymoma

NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493

G

ADP-ribosylation factor like GTPase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119

G

assembly factor for spindle microtubules

disease_progression

mRNA:increased expression:brain:

RGD

NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755

G

activating transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,295,602...95,299,755
Ensembl chr 1:95,295,610...95,299,707

G

autophagy related 2A

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242

G

autophagy related 7

treatment

RGD

NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593

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 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933

G

ATRX, chromatin remodeler

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

CTD
RGD

PMID:23583981 PMID:24705251 PMID:23104868

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

BCL2-associated agonist of cell death

protein:increased phosphorylation:brain (rat)
ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

G

Btg3 associated nuclear protein

ClinVar Annotator: match by term: Ependymoma

NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Astrocytoma

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

BarH-like homeobox 1

protein:increased expression:brain:

RGD

NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649

G

basic leucine zipper ATF-like transcription factor 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889

G

brevican

severity

protein:increased expression:brain:

RGD

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

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

NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460

G

bradykinin receptor B2

mRNA:increased expression:brain

RGD

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

G

baculoviral IAP repeat-containing 5

protein:increased expression:brain

RGD

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma

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

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

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

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

bromodomain containing 7

protein:increased expression:brain:

RGD

NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494

G

complement C3

treatment

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Malignant glioma

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

NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748

G

calcium voltage-gated channel auxiliary subunit gamma 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227

G

calcium/calmodulin-dependent protein kinase II alpha

disease_progression

RGD

NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994

G

calcium/calmodulin-dependent protein kinase II beta

disease_progression

RGD

NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994

G

calcium/calmodulin-dependent protein kinase kinase 2

disease_progression

RGD

NCBI chr12:33,791,023...33,845,000
Ensembl chr12:33,791,052...33,843,279

G

calpain 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

catsper channel auxiliary subunit zeta

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,114,816...204,118,582

G

caveolin 1

RGD

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

caveolin 2

RGD

NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244

G

coiled-coil domain containing 88B

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970

G

cellular communication network factor 1

exacerbates

human cells in mouse model

RGD

NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484

G

cyclin D1

susceptibility
disease_progression

RGD

PMID:22304571 PMID:21844184 PMID:21844184

RGD:13681930, RGD:13702091, RGD:13702091

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056

G

CD40 molecule

treatment

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

Cd80 molecule

RGD

NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030

G

CDC42 binding protein kinase gamma

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502

G

CDC42 effector protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897

G

cell division cycle associated 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023

G

cyclin-dependent kinase 4

disease_progression

RGD

PMID:23761023 PMID:21844184

RGD:13702090, RGD:13702091

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403