nervous 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:	nervous system cancer	go back to main search page
Accession:	DOID:3093	browse the term
Definition:	An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. (DO)
Synonyms:	exact_synonym:	malignant neoplasm of nervous system
	xref:	EFO:0007392; ICD9CM:192.9; NCI:C35562
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (1054) Mouse (1025) Human (27946) Chinchilla (849) Bonobo (888) Dog (915) Squirrel (857) Pig (891) Green Monkey (876) Naked Mole-rat (840) All
Genes (921) QTL (23) Strains (15) Cell Lines (95)

acoustic neuroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

artemin

mRNA:increased expression:peripheral nerve:

RGD

NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025

G

brain-derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

caveolin 1

RGD

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

G

cyclin-dependent kinase inhibitor 1A

mRNA,protein:decreased expression:myelinated nerve:

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cytochrome P450, family 2, subfamily e, polypeptide 1

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

RGD

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

DNA:missense mutation:cds:p.D312N (rs1799793) (human)

RGD

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

G

Fibroblast growth factor receptor 1

disease_progression

RGD

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

G

glial cell derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

RGD

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

G

insulin-like growth factor 1

susceptibility

protein:increased expression:serum:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor binding protein 3

susceptibility

protein:increased expression:serum:

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

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

protein:decreased expression:myelinated nerve:

RGD

NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

G

vascular endothelial growth factor A

RGD

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

ACTH-secreting pituitary adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl-hydrocarbon receptor-interacting protein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic

PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 More...

NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122

G

arginine vasopressin receptor 1B

RGD

NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792

G

bone morphogenetic protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

ubiquitin specific peptidase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666

Adult Cerebral Astrocytoma

term browser

Symbol

Object Name

Qualifiers

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

anaplastic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: 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

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: 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

Symbol

Object Name

Qualifiers

Evidence

Notes

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

astroblastoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

Qualifiers

Evidence

Notes

Source

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

atypical teratoid rhabdoid tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor

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

derlin 3

ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1

NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027

G

glypican 3

protein:increased expression:brain (human)

RGD

NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798

G

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical
OMIM:609322

CTD
OMIM
ClinVar
MouseDO

PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More...

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

G

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

ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1

PMID:25741868 PMID:28492532

NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989

G

tumor protein p53

ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor

PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More...

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

brain cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Brain cancer

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

G

heterogeneous nuclear ribonucleoprotein L

susceptibility

associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human)

RGD

NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Brain cancer

PMID:25741868 PMID:28492532

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

G

telomerase reverse transcriptase

ameliorates

DNA:SNP:cds:rs2736100 (human)

RGD

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

brain glioblastoma multiforme

term browser

Symbol

Object Name

Qualifiers

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

Symbol

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

G

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

Symbol

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

Carcinoid Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

protein:decreased expression:serum:

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

enolase 2

RGD

NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980

G

menin 1

DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human)

RGD

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

RGD

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

G

microRNA 10a

CTD Direct Evidence: marker/mechanism

NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280

G

microRNA 127

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311

G

microRNA 136

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177

G

microRNA 146a

CTD Direct Evidence: marker/mechanism

NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610

G

microRNA 154

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030

G

microRNA 155

CTD Direct Evidence: marker/mechanism

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 193a

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454

G

microRNA 222

CTD Direct Evidence: marker/mechanism

NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006

G

microRNA 224

CTD Direct Evidence: marker/mechanism

NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169

G

microRNA 30a

CTD Direct Evidence: marker/mechanism

NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670

G

microRNA 34b

CTD Direct Evidence: marker/mechanism

NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327

G

microRNA 34c

CTD Direct Evidence: marker/mechanism

NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802

G

microRNA 370

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,572,257...128,572,335
Ensembl chr 6:128,572,257...128,572,335

G

microRNA 409

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858

G

microRNA 410

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434

G

microRNA 487b

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,741,485...128,741,566
Ensembl chr 6:128,741,485...128,741,566

G

microRNA 494

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793

G

regenerating family member 1 alpha

associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human)

RGD

NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570

cavernous sinus meningioma

term browser

Symbol

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

central nervous system cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

X-ray repair cross complementing 1

susceptibility

DNA:SNPs:cd: p.R194W, p.Q399R (rs1799782, rs25487) (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:cd: p.T241M (rs861539) (Human)

RGD

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

central nervous system lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ameliorates

RGD

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

CD79b molecule

treatment

RGD

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

G

interleukin 10

DNA:SNP:promoter:-1082G>A (human)

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

MYD88, innate immune signal transduction adaptor

treatment

RGD

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

cerebellar angioblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Cerebellar hemangioblastoma

PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More...

NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

cerebellar medulloblastoma

term browser

Symbol

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

Symbol

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

chordoid glioma

term browser

Symbol

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

choroid plexus carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O3

ClinVar Annotator: match by term: Choroid plexus carcinoma

NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561

G

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

ClinVar Annotator: match by term: Choroid plexus carcinoma

NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Choroid plexus carcinoma

NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358

G

tumor protein p53

ClinVar Annotator: match by term: Choroid plexus carcinoma

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

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

chromosome 17q11.2 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ring finger protein 135

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome

PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More...

NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804

conjunctival squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 3A

DNA, mRNA:amplification, increase expression

RGD

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

corpus callosum lipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Corpus callosum lipoma

NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705

craniopharyngioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Craniopharyngioma

PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 More...

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

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

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

G

catenin beta 1

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

PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 More...

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

neurofibromin 1

ClinVar Annotator: match by term: Craniopharyngioma

PMID:25741868 PMID:28492532

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

G

platelet derived growth factor receptor alpha

disease_progression

RGD

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

G

patched 1

ClinVar Annotator: match by term: Craniopharyngioma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:29230040

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Rathke's pouch tumor

PMID:25741868 PMID:28492532 PMID:29641532

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

G

TSC complex subunit 1

ClinVar Annotator: match by term: Craniopharyngioma

PMID:22161988 PMID:25741868 PMID:28492532 PMID:29684080

NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674

Culler-Jones syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GLI family zinc finger 2

ClinVar Annotator: match by term: Culler-Jones syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:23408573 More...

NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574

desmoplastic/nodular medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

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

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

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

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:29684080 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

duodenal gastrinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

menin 1

associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: :

RGD

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

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

dysgerminoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anti-Mullerian hormone receptor type 2

protein:increased expression:ovary

RGD

NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258

G

BRCA1, DNA repair associated

ClinVar Annotator: match by term: Dysgerminoma

PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 More...

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

fibroblast growth factor receptor 2

associated with Acrocephalosyndactylia (MeSH:D000168)

RGD

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

inhibin subunit alpha

RGD

NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248

G

KIT proto-oncogene receptor tyrosine kinase

ClinVar Annotator: match by term: Dysgerminoma

PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More...

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

POU class 5 homeobox 1

RGD

NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891

G

Set nuclear proto-oncogene

ClinVar Annotator: match by term: Dysgerminoma

NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567

G

ST14 transmembrane serine protease matriptase

protein:increased expression:ovary

RGD

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

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

Familial Isolated Pituitary Adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl-hydrocarbon receptor-interacting protein

ClinVar Annotator: match by term: Familial isolated pituitary adenoma

PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 More...

NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Familial isolated pituitary adenoma

PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 More...

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

G

G protein subunit alpha i2

ClinVar Annotator: match by term: Familial isolated pituitary adenoma

NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979

familial medullary thyroid carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin receptor-related receptor

ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary

NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800

G

neurotrophic receptor tyrosine kinase 1

ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary

PMID:10330344 PMID:10443680 PMID:10861667 PMID:11139246 PMID:11159935 More...

NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770

G

prolactin receptor

OMIM:155240

NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718

G

ret proto-oncogene

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary

CTD
OMIM
ClinVar

PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More...

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

familial meningioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

killin, p53-regulated DNA replication inhibitor

ClinVar Annotator: match by term: Meningioma, familial, susceptibility to

PMID:25741868 PMID:27535533

G

MN1 proto-oncogene, transcriptional regulator

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

ClinVar
CTD
OMIM

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

G

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

ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7759081 PMID:8012353 PMID:9466988 PMID:9536098 PMID:9931334 More...

NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

G

platelet derived growth factor subunit B

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

ClinVar
CTD
OMIM

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

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to

CTD
ClinVar
OMIM

PMID:9259288 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9600246 More...

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

G

schwannomin interacting protein 1

ClinVar Annotator: match by term: Familial meningioma

NCBI chr 2:152,127,171...152,888,587
Ensembl chr 2:152,126,953...152,888,585

G

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

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to

CTD
ClinVar
OMIM

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 More...

NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989

G

SUFU negative regulator of hedgehog signaling

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to

CTD
OMIM
ClinVar

PMID:21188540 PMID:22508808 PMID:22958902 PMID:23826113 PMID:24728327 More...

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

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

gastrinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin-like growth factor 1 receptor

mRNA and protein: increased expression::poor prognosis for high expression

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

menin 1

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

CTD
RGD

PMID:17961653 PMID:15944766

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

MET proto-oncogene, receptor tyrosine kinase

severity

associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human)

RGD

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:hypomethylation:promoter (human)

RGD

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

G

solute carrier family 2 member 2

mRNA:decreased expression:pancreatic islet

RGD

PMID:12114701 PMID:8421107

RGD:2324976, RGD:2324977

NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933

Gastro-Enteropancreatic Neuroendocrine Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

disease_progression

associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human)

RGD

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

G

ATRX, chromatin remodeler

severity

RGD

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

G

Cd53 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 2:194,352,139...194,399,668
Ensembl chr 2:194,352,139...194,399,657

G

CD86 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

class II, major histocompatibility complex, transactivator

CTD Direct Evidence: marker/mechanism

NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440

G

C-X-C motif chemokine receptor 4

severity

protein:increased expression:colon (human)

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

death-domain associated protein

severity

RGD

NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843

G

eomesodermin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:118,181,340...118,189,186
Ensembl chr 8:118,181,777...118,188,316

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

G

growth factor independent 1 transcriptional repressor

CTD Direct Evidence: marker/mechanism

NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814

G

IKAROS family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591

G

interleukin 10

CTD Direct Evidence: marker/mechanism

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 2 receptor subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054

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

POU class 2 homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261

G

protein tyrosine phosphatase, receptor type, C

CTD Direct Evidence: marker/mechanism

NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692

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

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

germinoma

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:missense mutation:exon:p.V600E (human)

RGD

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

G

cyclin D2

RGD

NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495

G

cyclin-dependent kinase inhibitor 2A

DNA:transition:exon:142G>A

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

DNA:transition:exon:142G>A

RGD

G

cyclin-dependent kinase inhibitor 2A, variant 2

DNA:transition:exon:142G>A

RGD

G

matrix Gla protein

RGD

NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667

G

podoplanin

RGD

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

G

patched 1

ClinVar Annotator: match by term: Germinoma

PMID:25741868 PMID:28492532

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

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

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

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

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:1359493 PMID:1467311 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

Glucagonoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

betacellulin

protein:increased expression:pancreas

RGD

NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049

G

menin 1

DNA:deletion:exon
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17961653 PMID:20138042

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

solute carrier family 2 member 2

mRNA:decreased expression:pancreatic islet

RGD

PMID:12114701 PMID:8421107

RGD:2324976, RGD:2324977

NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933

G

somatostatin receptor 4

RGD

NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689

growth hormone secreting pituitary adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl-hydrocarbon receptor-interacting protein

ClinVar Annotator: match by term: Somatotroph adenoma

PMID:2200621 PMID:5320367 PMID:9482716 PMID:9536098 PMID:12213383 More...

NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122

G

cyclin-dependent kinase inhibitor 1A

protein:increased expression:pituitary gland:

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

growth hormone 1

CTD Direct Evidence: marker/mechanism

PMID:1611713 PMID:2042694

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

G protein-coupled receptor 101

CTD Direct Evidence: marker/mechanism

NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958

G

15-hydroxyprostaglandin dehydrogenase

mRNA:decreased expression:pituitary gland

RGD

NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228

G

menin 1

OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma

MouseDO
ClinVar

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062

G

prostaglandin-endoperoxide synthase 2

mRNA:increased expression:pituitary gland

RGD

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

growth hormone secreting pituitary adenoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein-coupled receptor 101

ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2

PMID:25470569 PMID:25741868 PMID:25806919 PMID:25806920 PMID:25806921 More...

NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958

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 protein 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

susceptibility

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

G

cyclin-dependent kinase 6

severity

DNA:amplification:

RGD

PMID:22736304 PMID:9102208

RGD:13702093, RGD:13702094

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

G

cyclin-dependent kinase inhibitor 1A

severity
treatment

DNA:hypermethylation:promoter:

RGD

PMID:20844987 PMID:9144534 PMID:18791688

RGD:13702125, RGD:13702129, RGD:13702128

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 2A

disease_progression

DNA:deletions
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15814359 PMID:19578367 PMID:11314047

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

G

cyclin-dependent kinase inhibitor 2B

CTD Direct Evidence: marker/mechanism

PMID:19578366 PMID:19578367

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

chromatin assembly factor 1 subunit A

susceptibility

DNA:SNP:intron:rs243356(human)

RGD

NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:brain:

RGD

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

G

checkpoint kinase 2

ClinVar Annotator: match by term: Astrocytoma

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

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

G

chitinase 3 like 1

CTD Direct Evidence: marker/mechanism

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

G

chloride voltage-gated channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657

G

chloride voltage-gated channel 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264

G

contactin 2

severity

mRNA, protein:increased expression:brain (human)

RGD

NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887

G

cytochrome c oxidase subunit 8A

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,402,118...204,404,439

G

ciliogenesis and planar polarity effector complex subunit 1

ClinVar Annotator: match by term: Astrocytoma

PMID:25741868 PMID:28492532

NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500

G

colony stimulating factor 1

RGD

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

cathepsin B

RGD

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

G

C-X-C motif chemokine receptor 3

RGD

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

cytochrome P450, family 2, subfamily b, polypeptide 1

CTD Direct Evidence: therapeutic

NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052

G

cytochrome P450, family 2, subfamily e, polypeptide 1

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

RGD

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

decorin

disease_progression

RGD

NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270

G

doublecortin

disease_progression
treatment

RGD

PMID:17178868 PMID:21477071 PMID:19681167

RGD:12904748, RGD:12904761, RGD:12904754

NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476

G

discoidin domain receptor tyrosine kinase 1

severity

mRNA, protein:increased expression:brain (human)

RGD

NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468

G

DEP domain containing 5, GATOR1 subcomplex subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794

G

delta like non-canonical Notch ligand 1

RGD

NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522

G

delta like canonical Notch ligand 4

ameliorates

RGD

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

G

Dmx-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:42,993,292...43,163,457
Ensembl chr18:42,993,340...43,163,456

G

DnaJ heat shock protein family (Hsp40) member C4

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,178,189...204,182,412
Ensembl chr 1:204,178,191...204,182,387

G

double PHD fingers 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983

G

E2F transcription factor 1

severity

RGD

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

G

E2F transcription factor 3

disease_progression

RGD

NCBI chr17:34,601,756...34,679,139
Ensembl chr17:34,601,830...34,676,253

G

EGF containing fibulin extracellular matrix protein 1

protein:increased expression:brain:

RGD

NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018

G

elongation factor like GTPase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518

G

epidermal growth factor

susceptibility

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

RGD

PMID:22106858 PMID:17473192

RGD:13702473, RGD:13702474

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

G

epidermal growth factor receptor

treatment

protein:alternative form:tumor (human)
ClinVar Annotator: match by term: Brainstem glioma

PMID:17177598 PMID:26619011 PMID:7606735 PMID:10616092

RGD:5131512, RGD:38599219

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

EH domain binding protein 1-like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270

G

EH-domain containing 1

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

NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212

G

ectonucleoside triphosphate diphosphohydrolase 2

RGD

NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866

G

EPH receptor A5

ClinVar Annotator: match by term: Astrocytoma

NCBI chr14:23,653,393...24,020,129
Ensembl chr14:23,653,393...24,017,317

G

erythropoietin

RGD

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

erythropoietin receptor

RGD

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Glioma susceptibility 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

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

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

RGD

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

G

ERCC excision repair 5, endonuclease

susceptibility

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

RGD

NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472

G

estrogen related receptor, alpha

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268

G

coagulation factor II, thrombin

treatment

RGD

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

family with sequence similarity 107, member A

CTD Direct Evidence: marker/mechanism

NCBI chr15:16,608,362...16,630,398
Ensembl chr15:16,607,205...16,630,396

G

family with sequence similarity 89, member B

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367

G

Fas cell surface death receptor

severity

mouse gene in a rat model

RGD

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

G

FAU ubiquitin like and ribosomal protein S30 fusion

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

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

G

FERM domain containing kindlin 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587

G

fibroblast growth factor 2

CTD Direct Evidence: therapeutic

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

Fibroblast growth factor receptor 1

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

PMID:10766980 PMID:23583981 PMID:23819449 PMID:25705862 PMID:25741868 More...

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

G

fibronectin leucine rich transmembrane protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750

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

FERM domain containing 8

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870

G

ferritin heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424

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

gap junction protein, alpha 1

RGD

NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582

G

galactosidase, beta 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127

G

gon-4 like

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634

G

glycoprotein hormone subunit alpha 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270

G

G protein-coupled receptor 137

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,129,636...204,132,622
Ensembl chr 1:204,129,636...204,133,082

G

glutathione S-transferase mu 1

severity

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase mu 3

DNA: deletion: intron 6

RGD

NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475

G

glutathione S-transferase, mu 5

DNA: deletion: intron 6

NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553

G

glutathione S-transferase pi 1

susceptibility

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

CTD
RGD

PMID:16899598 PMID:15006924

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

H3.3 histone A

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

PMID:22286216 PMID:23583981 PMID:26619011

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

G

histone deacetylase 3

disease_progression

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

NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856

G

helicase, lymphoid specific

severity

RGD

NCBI chr 1:236,701,704...236,748,239
Ensembl chr 1:236,701,758...236,746,844

G

hepatocyte growth factor

disease_progression

protein:increased expression:brain:

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

high mobility group box 1

treatment

RGD

NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

high mobility group nucleosome binding domain 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

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

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852

G

heat shock protein family A (Hsp70) member 5

protein:increased expression

RGD

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

isocitrate dehydrogenase (NADP(+)) 1

susceptibility

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

CTD
ClinVar
OMIM

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:19901110 More...

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

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Brainstem glioma

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

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

interferon gamma

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

insulin-like growth factor 1

severity

protein:increased expression:serum:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 1 receptor

DNA: SNP: : rs2272037 or rs2016347

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor binding protein 3

severity

protein:increased expression:serum:

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

interleukin 10

susceptibility

DNA:SNP: :rs1800896 (human)

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 12A

CTD Direct Evidence: therapeutic

NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734

G

interleukin 12B

CTD Direct Evidence: therapeutic

NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903

G

interleukin 18

treatment

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 2

treatment

RGD

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

G

interleukin 4

treatment

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 7

RGD

NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075

G

ISG15 ubiquitin-like modifier

CTD Direct Evidence: marker/mechanism

NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Ependymoma

NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316

G

potassium two pore domain channel subfamily K member 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925

G

potassium two pore domain channel subfamily K member 7

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872

G

lysine demethylase 5B

disease_progression

RGD

PMID:25450384 PMID:25450384

RGD:13702126, RGD:13702126

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

G

kinase insert domain receptor

disease_progression
severity

RGD

PMID:20501615 PMID:10506722

RGD:5684393, RGD:5684425

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

G

kelch-like family member 21

ClinVar Annotator: match by term: Ependymoma

NCBI chr 5:162,514,888...162,523,545
Ensembl chr 5:162,514,765...162,523,545

G

killin, p53-regulated DNA replication inhibitor

ClinVar Annotator: match by term: Glioma susceptibility 2

PMID:25741868 PMID:27535533

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Astrocytoma

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

G

KRAS proto-oncogene, GTPase

severity

RGD

PMID:22207524 PMID:19435821

RGD:13702477, RGD:13702860

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

G

kringle containing transmembrane protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904

G

galectin 3

disease_progression

RGD

NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025

G

DNA ligase 4

DNA:SNP: :rs1805388 (human)

RGD

NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040

G

lymphotoxin alpha

treatment

RGD

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975

G

mono-ADP ribosylhydrolase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716

G

membrane anchored junction protein

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092

G

mitogen activated protein kinase kinase 1

RGD

NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147

G

mitogen-activated protein kinase kinase kinase 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652

G

mitogen activated protein kinase kinase kinase kinase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331

G

mitogen-activated protein kinase kinase kinase kinase 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 6:14,276,623...14,446,321
Ensembl chr 6:14,277,121...14,446,334

G

mitogen activated protein kinase 3

RGD

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

microtubule affinity regulating kinase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652

G

midkine

CTD Direct Evidence: marker/mechanism

NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130

G

menin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:brain, glioma (rat)

RGD

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

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

PMID:16033832 PMID:16899598 PMID:19901110

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

G

microRNA 192

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055

G

microRNA 194-2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845

G

marker of proliferation Ki-67

RGD

NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762

G

matrix metallopeptidase 2

treatment

RGD

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

G

mitochondrial ribosomal protein L49

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049

G

mutS homolog 2

ClinVar Annotator: match by term: Ependymoma

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

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

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537

G

mechanistic target of rapamycin kinase

severity

RGD

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

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23583981 PMID:26829751

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183

G

myosin light chain kinase

CTD Direct Evidence: marker/mechanism

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

N(alpha)-acetyltransferase 40, NatD catalytic subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,410,636...204,430,890
Ensembl chr 1:204,413,498...204,430,717

G

N-acetylated alpha-linked acidic dipeptidase-like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195

G

NAD synthetase 1

susceptibility

RGD

NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869

G

NDRG family member 4

disease_progression

protein:decreased expression:brain

RGD

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

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441

G

neurofibromin 1

disease_progression

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

CTD
RGD

PMID:25119042 PMID:26190195

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

G

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

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

G

nitric oxide synthase 3

protein:increased expression:blood vessel endothelial cell

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

neurexin 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297

G

neurotrophic receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770

G

neurotrophic receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136

G

neurotrophic receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286

G

nudix hydrolase 22

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,182,797...204,186,421
Ensembl chr 1:204,182,802...204,186,280

G

OTU deubiquitinase, ubiquitin aldehyde binding 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573

G

POZ (BTB) and AT hook containing zinc finger 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr14:78,154,590...78,173,032
Ensembl chr14:78,152,516...78,173,032

G

protein-L-isoaspartate (D-aspartate) O-methyltransferase 1

mRNA:decreased expression:brain:

RGD

NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201

G

pecanex 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561

G

PDGFA associated protein 1

severity

RGD

NCBI chr12:9,470,652...9,480,880
Ensembl chr12:9,470,574...9,535,374

G

platelet derived growth factor subunit A

in a mouse model

RGD

NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497

G

platelet derived growth factor subunit B

severity

RGD

PMID:27448842 PMID:21677873 PMID:26945107

RGD:13702895, RGD:13702897, RGD:13702896

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

G

pleckstrin homology-like domain, family B, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522

G

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

ClinVar Annotator: match by term: Brainstem glioma

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

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

G

phosphoinositide-3-kinase regulatory subunit 3

treatment

RGD

NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583

G

plasminogen activator, urokinase

severity

protein:increased expression:brain (human)

RGD

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

G

phospholipase C beta 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228

G

polo-like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:176,716,420...176,726,400
Ensembl chr 1:176,716,420...176,726,400

G

DNA polymerase alpha 2, accessory subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348

G

protection of telomeres 1

ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9

PMID:25741868 PMID:26467025 PMID:28492532 PMID:32191290 PMID:34193977

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

G

POU class 3 homeobox 4

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:75,858,646...75,859,923
Ensembl chr X:75,858,646...75,859,923

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891

G

peroxisome proliferator-activated receptor gamma

ClinVar Annotator: match by term: Glioma susceptibility 1

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

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

G

protein phosphatase, Mg2+/Mn2+ dependent, 1D

CTD Direct Evidence: marker/mechanism

NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607

G

protein phosphatase 1, regulatory (inhibitor) subunit 14B

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,165,210...204,167,320
Ensembl chr 1:204,163,299...204,167,319

G

protein phosphatase 2, regulatory subunit B', beta

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416

G

peroxiredoxin 5

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268

G

protein kinase C, alpha

DNA:gene fusion: :

RGD

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

G

pleckstrin and Sec7 domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioma susceptibility 2
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2
DNA:deletions, missense mutations, nonsense mutation:exons:multiple (human)

CTD
ClinVar
OMIM
RGD

PMID:792966 PMID:1336932 PMID:7728760 PMID:8980400 PMID:9140396 More...

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

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

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

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Astrocytoma

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

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

G

glycogen phosphorylase, muscle associated

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368

G

QKI, KH domain containing RNA binding

CTD Direct Evidence: marker/mechanism

NCBI chr 1:50,387,716...50,501,568
Ensembl chr 1:50,387,698...50,498,831

G

Raf-1 proto-oncogene, serine/threonine kinase

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

NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317

G

RAS guanyl releasing protein 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993

G

Ras association domain family member 1

RGD

NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164

G

REST corepressor 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,453,403...204,461,403
Ensembl chr 1:204,454,360...204,460,838

G

RELA proto-oncogene, NF-kB subunit

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

ret proto-oncogene

ClinVar Annotator: match by term: Ependymoma

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

G

ring finger protein 43

exacerbates

protein:decreased expression:brain, brainstem (human)

RGD

NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977

G

ROS proto-oncogene 1 , receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865

G

ribosomal protein S6 kinase A4

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,021,805...204,032,781
Ensembl chr 1:204,021,806...204,032,761

G

RT1 class I, locus CE16

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563

G

regulator of telomere elongation helicase 1

CTD Direct Evidence: marker/mechanism

PMID:19578366 PMID:19578367

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

G

SAC3 domain containing 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604

G

SCY1 like pseudokinase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533

G

serpin family E member 1

protein:increased expression:plasma

RGD

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

G

SET domain containing, pseudogene 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 2:43,319,359...43,322,764

G

SET domain bifurcated histone lysine methyltransferase 1

severity

protein:increased expression:brain, cell nucleus (human)

RGD

NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506

G

splicing factor 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330

G

SH3 domain containing GRB2 like 1, endophilin A2

disease_progression
severity

protein:increased expression:cytoplasm,white matter:

RGD

PMID:23050879 PMID:23050879 PMID:23050879

RGD:13463483, RGD:13463483, RGD:13463483

NCBI chr 9:842,285...869,753
Ensembl chr 9:842,288...869,716

G

SH3 domain and tetratricopeptide repeats 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083

G

signal-induced proliferation-associated 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591

G

sirtuin 2

treatment

RGD

NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975

G

solute carrier family 22 member 12

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555

G

solute carrier family 25, member 45

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473

G

solute carrier family 39, member 11

ClinVar Annotator: match by term: Ependymoma

NCBI chr10:98,275,958...98,697,042
Ensembl chr10:98,275,960...98,611,295

G

solute carrier family 44 member 1

DNA:gene fusion: :

RGD

NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909

G

solute carrier family 5 member 5

CTD Direct Evidence: therapeutic

NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697

G

solute carrier family 6 member 3

protein:decreased expression

RGD

NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413

G

solute carrier family 7 member 5

ameliorates

RGD

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

G

sorting nexin 15

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

SRY-box transcription factor 6

RGD

NCBI chr 1:169,723,306...170,334,846
Ensembl chr 1:169,729,194...170,277,386

G

sphingosine kinase 1

protein:increased expression:endothelial cell (rat)

RGD

NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240

G

spindlin interactor and repressor of chromatin binding

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,541,647...204,565,109
Ensembl chr 1:204,542,335...204,564,144

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16651633 PMID:16651633

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

sprouty RTK signaling antagonist 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr12:16,663,188...16,673,124
Ensembl chr12:16,663,389...16,672,531

G

ST6 beta-galactoside alpha-2,6-sialyltransferase 1

treatment

RGD

NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310

G

stress-induced phosphoprotein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,209,433...204,228,452
Ensembl chr 1:204,178,932...204,228,476

G

stathmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982

G

SUV39H1 histone lysine methyltransferase, pseudogene 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr X:141,792,589...141,795,257

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

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322

G

synoviolin 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152

G

transcription activation suppressor

ClinVar Annotator: match by term: Ependymoma

NCBI chr16:2,606,807...2,669,902
Ensembl chr16:2,603,936...2,667,292

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

PMID:18021753 PMID:19578367

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

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

G

tigger transposable element derived 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272

G

transmembrane 7 superfamily member 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270

G

tenascin C

protein:increased expression:brain

RGD

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

G

tumor necrosis factor

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22199285 PMID:11810046

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

PMID:16820965 PMID:19229339

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

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874

G

tumor protein p53

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

ClinVar
OMIM
CTD
RGD

PMID:124622 PMID:1200021 PMID:1359493 PMID:1467311 PMID:1565143 More...

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

G

Tnf receptor-associated factor 3

ClinVar Annotator: match by term: Ependymoma

NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481

G

tripartite motif-containing 29

CTD Direct Evidence: marker/mechanism

NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992

G

tRNA methyltransferase activator subunit 11-2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,103,298...204,104,151

G

transient receptor potential cation channel, subfamily M, member 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605

G

tRNA phosphotransferase 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,186,295...204,191,294
Ensembl chr 1:204,186,295...204,191,294

G

transient receptor potential cation channel, subfamily V, member 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517

G

TSC complex subunit 1

ClinVar Annotator: match by term: Astrocytoma

NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156

G

VHL binding protein 1

ClinVar Annotator: match by term: Ependymoma

G

vascular endothelial growth factor B

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944

G

VPS51 subunit of GARP complex

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430

G

XIAP associated factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770

G

X-box binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693

G

X-ray repair cross complementing 1

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP:cd: p.Q399R (rs25487) (human)

CTD
RGD

PMID:25227852 PMID:23534771

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:cd: p.T241M (rs861539) (Human)

RGD

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

G

YEATS domain containing 4

RGD

NCBI chr 7:52,858,313...52,865,454
Ensembl chr 7:52,858,305...52,865,635

G

zinc finger protein-like 1

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487

G

zinc finger translocation associated

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:204,604,557...204,612,688
Ensembl chr 1:204,604,103...204,612,688

G

zinc finger, HIT-type containing 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636

G

zinc ribbon domain containing 2

ClinVar Annotator: match by term: Ependymoma

NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465

high-grade astrocytoma with piloid features

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protection of telomeres 1

ClinVar Annotator: match by term: High-grade astrocytoma with piloid features

PMID:25741868 PMID:28492532 PMID:32155570

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

Hirschsprung Disease Ganglioneuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeobox 2b

ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma

PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More...

NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978

IDH-mutant anaplastic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002

NCBI chr 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: Astrocytoma IDH-mutant

PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002

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

G

epithelial cell adhesion molecule

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127

G

neurofibromin 1

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

PMID:25741868 PMID:28492532

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

G

RAD54 like

ClinVar Annotator: match by term: Astrocytoma IDH-mutant

NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070

infant-type hemispheric glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1, DNA repair associated

ClinVar Annotator: match by term: Infant-type hemispheric glioma

PMID:9609997 PMID:19543972 PMID:21990134 PMID:21990165 PMID:24489791 More...

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

Intestinal Carcinoid Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleosome assembly protein 1-like 1

mRNA:increased expression:intestinal mucosa (human)

RGD

NCBI chr 7:46,933,278...46,957,853
Ensembl chr 7:46,933,356...46,956,593

G

succinate dehydrogenase complex subunit D

ClinVar Annotator: match by term: Carcinoid tumors, intestinal

PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 More...

NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238

islet cell tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

disease_progression

protein:decreased expression:pancreas:

RGD

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

G

cyclin-dependent kinase 4

protein:increased expression:pancreas, islet of Langerhans (human)

RGD

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

G

death-domain associated protein

disease_progression

RGD

NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843

G

proprotein convertase subtilisin/kexin type 1

protein:increased expression:insulinoma (rat)

RGD

NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434

Islet Cell Tumor Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

farnesyltransferase, CAAX box, subunit beta

ClinVar Annotator: match by term: Chromaffinoma

NCBI chr 6:95,536,540...95,619,587
Ensembl chr 6:95,470,683...95,619,586

G

MYC associated factor X

ClinVar Annotator: match by term: Chromaffinoma

PMID:21685915 PMID:22452945 PMID:23666964 PMID:25741868 PMID:26070438 More...

NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137

G

myelin protein zero

ClinVar Annotator: match by term: Chromaffinoma

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679

G

ret proto-oncogene

ClinVar Annotator: match by term: Chromaffinoma

PMID:2660074 PMID:3078962 PMID:7536460 PMID:7704557 PMID:7824936 More...

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

G

succinate dehydrogenase complex assembly factor 2

ClinVar Annotator: match by term: Chromaffinoma

NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Chromaffinoma

PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 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: Chromaffinoma

PMID:12807974 PMID:17468193 PMID:19454582 PMID:22703879 PMID:23342407 More...

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

G

succinate dehydrogenase complex subunit D

ClinVar Annotator: match by term: Chromaffinoma

PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More...

NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238

G

transmembrane protein 127

ClinVar Annotator: match by term: Chromaffinoma

PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More...

NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Chromaffinoma

PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 More...

NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

Lung Carcinoid Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

disease_progression

protein:decreased expression:nucleus, lung

RGD

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

G

collagen type IV alpha 3 chain

severity

mRNA:decreased expression:lung (human)

RGD

NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895

G

cAMP responsive element binding protein 5

severity

mRNA:decreased expression:lung (human)

RGD

NCBI chr 4:82,393,091...82,794,320
Ensembl chr 4:82,393,730...82,790,325

G

menin 1

ClinVar Annotator: match by term: Lung carcinoid tumor

PMID:9215689 PMID:9361035 PMID:9463336 PMID:11303512 PMID:11579199 More...

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

protein tyrosine phosphatase, receptor type, B

severity

mRNA:decreased expression:lung (human)

RGD

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

lung oat cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Lung oat cell carcinoma

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

beta-2 microglobulin

ClinVar Annotator: match by term: Lung oat cell carcinoma

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

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

ClinVar Annotator: match by term: Lung oat cell carcinoma

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

phosphatase and tensin homolog

ClinVar Annotator: match by term: Lung oat cell carcinoma

PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More...

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

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Lung oat cell carcinoma

PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 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: Lung oat cell carcinoma

PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 More...

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

lung small cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1B

RGD

NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673

G

adenylate cyclase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:81,911,240...82,020,594
Ensembl chr14:81,911,099...82,028,969

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Small cell lung cancer

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

apolipoprotein A1

treatment

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein C3

treatment

RGD

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

achaete-scute family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993

G

ATM serine/threonine kinase

susceptibility

DNA:SNP:intron:(rs227060) (human)

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

G

ATRX, chromatin remodeler

disease_progression

RGD

PMID:31374064 PMID:29748005

RGD:127285382, RGD:127285383

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

G

arginine vasopressin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425

G

axin 2

disease_progression

DNA:SNP::1386 C>T(human)

RGD

NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231

G

beta-2 microglobulin

ClinVar Annotator: match by term: Small cell lung carcinoma

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

BCL2, apoptosis regulator

susceptibility

DNA:SNP: :rs2279115(human)

RGD

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

BCL2-associated transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832

G

cyclin D1

disease_progression

DNA:snp:exon:c.870G>A (human)

RGD

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

G

cyclin-dependent kinase inhibitor 1B

protein:increased expression:lung

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

chromodomain Y-like

CTD Direct Evidence: marker/mechanism

NCBI chr17:28,982,009...29,204,345
Ensembl chr17:28,982,037...29,204,313

G

cholinergic receptor nicotinic alpha 3 subunit

susceptibility

mRNA:increased expression:lung
DNA:SNP:cds:rs8040868(human)

RGD

PMID:20124469 PMID:22280835

RGD:150527851, RGD:151347453

NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165

G

cholinergic receptor nicotinic alpha 5 subunit

mRNA:increased expression:lung

RGD

NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146

G

cholinergic receptor nicotinic alpha 9 subunit

susceptibility

DNA:SNPs:multiples:

RGD

NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192

G

cholinergic receptor nicotinic beta 4 subunit

mRNA:increased expression:lung

RGD

NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027

G

creatine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315

G

contactin associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027

G

collagen type XXII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 7:103,730,939...103,968,452
Ensembl chr 7:103,731,037...103,968,462

G

collagen type IV alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

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

G

colony stimulating factor 1 receptor

exacerbates

protein:increased expression:lung (human)

RGD

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

cytochrome P450, family 24, subfamily a, polypeptide 1

susceptibility

DNA:SNP:CDS: (rs6068816) (human)

RGD

NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383

G

disco-interacting protein 2 homolog C

CTD Direct Evidence: marker/mechanism

NCBI chr17:60,647,346...61,032,467
Ensembl chr17:60,649,065...61,032,305

G

delta like canonical Notch ligand 4

treatment

RGD

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

G

DNA methyltransferase 3 beta

susceptibility

DNA:SNPs:promoter:-283T >C,-579G>T(human)

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

E2F transcription factor 1

disease_progression
treatment

mRNA, protein:increased expression:lung

RGD

PMID:24755270 PMID:11313916 PMID:23792570

RGD:13464335, RGD:13464344, RGD:13464337

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

G

eukaryotic translation elongation factor 2

protein:increased expression:lung (human)

RGD

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

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

ELAV like RNA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:105,960,872...106,086,463
Ensembl chr 5:105,960,875...106,109,097

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

Eph receptor A7

CTD Direct Evidence: marker/mechanism

NCBI chr 5:42,975,353...43,128,703
Ensembl chr 5:42,975,405...43,127,112

G

FAT atypical cadherin 1

DNA:mutations:multiple (human)

RGD

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

G

Fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

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

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

glutamate ionotropic receptor kainate type subunit 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:137,767,865...137,989,617
Ensembl chr 5:137,767,865...137,984,307

G

glutamate metabotropic receptor 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831

G

gastrin releasing peptide

disease_progression

protein:increased expression:serum (human)

RGD

NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061

G

inhibitor of DNA binding 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:41,740,556...41,742,393
Ensembl chr 6:41,728,946...41,744,400

G

INSM transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:133,640,030...133,642,963
Ensembl chr 3:133,639,580...133,643,003

G

integrin subunit beta 1

disease_progression
treatment

RGD

PMID:21063403 PMID:12168902

RGD:13792831, RGD:13792832

NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195

G

lysine demethylase 6A

DNA:mutations:multiple: (human)

RGD

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

G

KH-type splicing regulatory protein

CTD Direct Evidence: marker/mechanism

NCBI chr 9:1,862,555...1,872,403
Ensembl chr 9:1,862,899...1,872,451

G

kinesin family member 21A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999

G

KIT proto-oncogene receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

G

lysine methyltransferase 2D

disease_progression

DNA:missense mutations, insertion/deletion:plasma

RGD

PMID:28007623 PMID:29748005 PMID:27873319 PMID:29627316

RGD:150523766, RGD:127285383, RGD:150523768, RGD:150523767

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

G

laminin subunit alpha 3

DNA:hyper-methylation:promoter:

RGD

NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353

G

laminin subunit beta 3

DNA:hyper-methylation:promoter:

RGD

NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405

G

laminin subunit gamma 2

DNA:hyper-methylation:promoter:

RGD

NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200

G

LYR motif containing 9

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,725,718...63,739,772
Ensembl chr10:63,725,743...63,739,772

G

MYC associated factor X

DNA:loss of heterozygosity:lung

RGD

NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137

G

methylenetetrahydrofolate reductase

severity

protein:missense mutation:cds:p.A222V (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

mechanistic target of rapamycin kinase

disease_progression

DNA:SNP: :rs2536(human)

RGD

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

disease_progression

RGD

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

G

MYCL proto-oncogene, bHLH transcription factor

CTD Direct Evidence: therapeutic

NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582

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

notch receptor 1

treatment

RGD

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

G

polybromo 1

disease_progression

RGD

NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780

G

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

ClinVar Annotator: match by term: Small cell lung carcinoma

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

phosphoinositide-3-kinase regulatory subunit 1

disease_progression

DNA:SNPs: :rs3756668,rs12755(human)

RGD

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

G

phospholipid scramblase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:92,987,290...93,026,056
Ensembl chr 8:92,987,381...93,026,049

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung carcinoma

PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More...

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

G

protein tyrosine kinase 2

disease_progression

DNA:CNV::

RGD

PMID:21800286 PMID:20802517

RGD:13825133, RGD:13825141

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

G

RAD52 homolog, DNA repair protein

susceptibility
treatment

DNA:SNP:3'utr: (rs7963551) (human)
DNA:SNP: (rs10774474)(human)

RGD

PMID:26629180 PMID:27531263

RGD:151660337, RGD:151660339

NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207

G

retinoic acid receptor, beta

DNA:methylation: :

RGD

NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288

G

Ras association domain family member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:178,716,110...178,798,042
Ensembl chr 4:178,719,992...178,796,690

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung carcinoma

PMID:1352883 PMID:2594029 PMID:7881418 PMID:9632788 PMID:9671401 More...

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

G

RPTOR independent companion of MTOR, complex 2

severity

associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human)
DNA:CNV, amplification:exon (human)

RGD

PMID:31454632 PMID:27863413

RGD:152995447, RGD:152995517

NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426

G

regulating synaptic membrane exocytosis 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491

G

RUNX1 partner transcriptional co-repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592

G

SATB homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707

G

S-phase kinase associated protein 2

mRNA:increased expression:lung:

RGD

NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338

G

slit guidance ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338

G

transmembrane protein 132D

CTD Direct Evidence: marker/mechanism

NCBI chr12:28,270,039...28,917,324
Ensembl chr12:28,270,712...28,915,374

G

tumor protein p53

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma

PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 More...

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

G

tumor protein p73

DNA:mutations:multiple: (human)

RGD

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

G

transthyretin

protein:increased expression:lung (human)

NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008

G

UBX domain protein 11

ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma

NCBI chr 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526

G

exportin 5

severity

DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)

RGD

NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171

G

zinc finger, DBF-type containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265

malignant astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1

CTD Direct Evidence: marker/mechanism

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

G

adhesion G protein-coupled receptor B1

severity

RGD

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

G

AKT serine/threonine kinase 1

disease_progression

RGD

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

G

AKT serine/threonine kinase 2

severity

RGD

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

G

AKT serine/threonine kinase 3

severity

RGD

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

G

annexin A1

associated with Tuberous Sclerosis;mRNA:increased expression:brain

RGD

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

androgen receptor

CTD Direct Evidence: marker/mechanism

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

ATRX, chromatin remodeler

disease_progression
severity

RGD

PMID:24810474 PMID:23765250

RGD:9586026, RGD:11040585

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

G

B-Raf proto-oncogene, serine/threonine kinase

onset

CTD Direct Evidence: marker/mechanism
DNA:rearrangement: :
DNA:mutation:cds:p.V600E(human)

CTD
RGD

PMID:23817572 PMID:19794125 PMID:25346165

RGD:11069832, RGD:11567238

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

G

bromodomain containing 7

severity

protein:increased expression:brain:

RGD

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

G

bone marrow stromal cell antigen 2

severity

RGD

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

G

cell adhesion molecule 2

severity

protein:decreased expression:brain

RGD

NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400

G

calcium/calmodulin-dependent protein kinase II gamma

disease_progression

RGD

NCBI chr15:3,504,017...3,563,050
Ensembl chr15:3,504,085...3,563,050

G

cyclin D1

severity

RGD

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

G

delta like canonical Notch ligand 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750

G

docking protein 2

disease_progression

mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human)

RGD

NCBI chr15:45,826,984...45,841,409
Ensembl chr15:45,827,398...45,841,402

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

Fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

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

G

far upstream element binding protein 1

mRNA:increased expression:brain (human)

RGD

NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602

G

G3BP stress granule assembly factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:39,586,864...39,620,268
Ensembl chr10:39,586,864...39,620,268

G

glutathione S-transferase mu 1

severity

DNA:deletion: :

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

susceptibility

DNA:polymorphism:exon:p.A114V (human)

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

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

hes-related family bHLH transcription factor with YRPW motif 2

CTD Direct Evidence: marker/mechanism

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

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

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

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

KIAA1549 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436

G

KRAS proto-oncogene, GTPase

susceptibility

sporadic pilocytic astrocytoma, OMIM:137800
DNA:mutation:cds:p.G12D(mouse)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23817572 PMID:16247081 PMID:24038521

RGD:1600476, RGD:13702858

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

G

large tumor suppressor kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640

G

large tumor suppressor kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:31,825,068...31,877,193
Ensembl chr15:31,825,092...31,877,220

G

mitogen activated protein kinase kinase 3

protein:increased expression, increased phosphorylation:brain

RGD

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

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

Mir155 host gene

severity

RGD

NCBI chr11:23,773,468...23,775,697

G

matrix metallopeptidase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

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

G

MRE11 homolog, double strand break repair nuclease

severity

mRNA:decreased expression:brain tumor (human)

RGD

NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279

G

nuclear receptor coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:154,738,566...154,821,395
Ensembl chr 3:154,738,581...154,818,594

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

NEDD8 ubiquitin like modifier

RGD

NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160

G

neurofibromin 1

protein:decreased expression:brain:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20176786 PMID:23817572 PMID:10973261 PMID:10931370

RGD:1302542, RGD:12743656

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

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

neurotrophic receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136

G

protein-L-isoaspartate (D-aspartate) O-methyltransferase 1

protein:decreased expression,decreased activity:brain:

RGD

NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201

G

protein tyrosine phosphatase, non-receptor type 11

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

PMID:15985475 PMID:18470943 PMID:20186801 PMID:22781091 PMID:23624134 More...

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

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

Tia1 cytotoxic granule-associated RNA binding protein-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:183,008,358...183,045,092
Ensembl chr 1:183,009,253...183,031,637

G

tumor protein p53

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant astrocytoma
DNA:nonsense mutation:cds:

CTD
ClinVar
RGD

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

malignant choroid melanoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eukaryotic translation initiation factor 1A, X-linked

ClinVar Annotator: match by term: Choroidal melanoma

NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335

malignant peripheral nerve sheath tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine demethylase 4B

DNA:amplification:cds (human)

RGD

NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543

Medullary Carcinomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

15-hydroxyprostaglandin dehydrogenase

CTD Direct Evidence: therapeutic

NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism

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

medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 3

ClinVar Annotator: match by term: Classic medulloblastoma

NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300

G

APC regulator of WNT signaling pathway

associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:7661930 PMID:17238184

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

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Medulloblastoma

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

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

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

G

atonal bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154

G

Brca1 associated protein 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 More...

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

G

BRCA2, DNA repair associated

susceptibility

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

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 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 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

PMID:24231268 PMID:31594641

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

G

cyclin D1

RGD

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

G

cyclin E1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101

G

cyclin-dependent kinase 6

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19270706 PMID:23138228 PMID:16314645

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

G

cyclin-dependent kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410

G

CREB binding protein

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

catenin beta 1

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More...

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

DEAD-box helicase 3, X-linked

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

PMID:26822237 PMID:27058758

NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168

G

dicer 1 ribonuclease III

ClinVar Annotator: match by term: Medulloblastoma

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

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007

G

elongator acetyltransferase complex subunit 1

ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma

OMIM
ClinVar
CTD

PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 More...

NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762

G

E1A binding protein p300

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

estrogen receptor 2

CTD Direct Evidence: therapeutic

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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: Medulloblastoma

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

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

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

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

G

forkhead box O3

ClinVar Annotator: match by term: Medulloblastoma

NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561

G

G protein-coupled receptor 161

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

OMIM
ClinVar
CTD

PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 More...

NCBI chr13:77,578,257...77,623,661
Ensembl chr13:77,577,739...77,619,613

G

glutathione S-transferase mu 1

DNA:deletion: :

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

DNA:deletion: :

RGD

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

G

HIC ZBTB transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

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

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

G

insulin receptor substrate 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606

G

lysine demethylase 4B

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

CTD
RGD

PMID:19270706 PMID:19270706

NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543

G

lysine demethylase 4C

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

CTD
RGD

PMID:19270706 PMID:19270706

NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818

G

L3MBTL histone methyl-lysine binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489

G

L3MBTL histone methyl-lysine binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:18,988,763...19,089,247
Ensembl chr 1:18,990,618...19,089,263

G

MPL proto-oncogene, thrombopoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:19270706 PMID:31694585

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

G

MYCL proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582

G

MYCN proto-oncogene, bHLH transcription factor

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

PMID:19270706 PMID:26619011

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

G

non-POU domain containing, octamer-binding

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:26822237

NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More...

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

G

orthodenticle homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416

G

platelet derived growth factor receptor alpha

severity

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19270706 PMID:25576913

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

G

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

ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma

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

NCBI 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 gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043

G

PRAME like, X-linked 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Medulloblastoma

PMID:26822237 PMID:28492532

NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

G

protein arginine methyltransferase 5

CTD Direct Evidence: therapeutic

NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296

G

patched 1

CTD Direct Evidence: marker/mechanism
OMIM:155255
ClinVar Annotator: match by term: Medulloblastoma

CTD
MouseDO
ClinVar
RGD

PMID:16301862 PMID:16419085 PMID:18347096 PMID:19155313 PMID:19213072 More...

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

G

patched 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405

G

Ras association domain family member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Medulloblastoma

PMID:25741868 PMID:28492532 PMID:10783170

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

G

ret proto-oncogene

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

PMID:11436122 PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 More...

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

G

S100 calcium binding protein A10

CTD Direct Evidence: marker/mechanism

NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661

G

S100 calcium-binding protein A4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254

G

S100 calcium binding protein A6

CTD Direct Evidence: marker/mechanism

NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180

G

secretogranin V

CTD Direct Evidence: marker/mechanism

NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463

G

Scm polycomb group protein like 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742

G

splicing factor 3b, subunit 2

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME

NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759

G

S-phase kinase associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

ClinVar Annotator: match by term: Medulloblastoma

PMID:23698369 PMID:26822237 PMID:26842758 PMID:28492532

NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975

G

smoothened, frizzled class receptor

treatment

ClinVar Annotator: match by term: Medulloblastoma

PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163

NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829

G

SET and MYND domain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,200,067...60,246,387
Ensembl chr10:60,200,114...60,246,387

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

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

G

STE20 related adaptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More...

RGD:1599191, RGD:150573693

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

G

tumor protein p53

disease_progression

ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
protein:increased expression:nucleus:

PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More...

RGD:1302544, RGD:8547823

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

G

TSC complex subunit 2

DNA:polymorphism:intron

RGD

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

G

tubulin, beta 4A class IVa

ClinVar Annotator: match by term: Classic medulloblastoma

NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937

G

WRN RecQ like helicase

ClinVar Annotator: match by term: Medulloblastoma

PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More...

NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450

Megalencephaly-Polydactyly Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome

PMID:25741868 PMID:30573562 PMID:37710961

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

melanoma and neural system tumor syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome | ClinVar Annotator: match by term: Melanoma astrocytoma syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:865368 PMID:2677576 PMID:5001868 PMID:7566978 PMID:7640518 More...

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

meninges sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

RGD

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

meningioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

CTD Direct Evidence: marker/mechanism

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

G

aminolevulinate dehydratase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474

G

Brca1 associated protein 1

CTD Direct Evidence: marker/mechanism

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

G

cystatin C

CTD Direct Evidence: marker/mechanism

NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822

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

cathepsin L

CTD Direct Evidence: marker/mechanism

NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548

G

DNA methyltransferase 1

ClinVar Annotator: match by term: Meningioma

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

erythrocyte membrane protein band 4.1-like 3

RGD

NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607

G

glutathione peroxidase 3

severity

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

glutathione S-transferase mu 3

DNA: deletion: intron 6

RGD

NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475

G

glutathione S-transferase, mu 5

DNA: deletion: intron 6

NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553

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

hepatocyte growth factor

disease_progression

protein:increased expression:brain:

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

lysine methyltransferase 2D

disease_progression

RGD

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

G

MLLT10, histone lysine methyltransferase DOT1L cofactor

CTD Direct Evidence: marker/mechanism

NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345

G

MN1 proto-oncogene, transcriptional regulator

DNA:translocation

RGD

PMID:16398473 PMID:7731706

RGD:1624321, RGD:1600423

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

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

DNA:SNP: :66A>G, (rs1801394) (human)

RGD

NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425

G

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

ClinVar Annotator: match by term: Meningioma
DNA:loss of heterozygosity
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9643284 More...

RGD:1624321, RGD:150530508

NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Meningioma

PMID:2212004 PMID:3133569 PMID:3969118

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

G

progesterone receptor

CTD Direct Evidence: marker/mechanism

PMID:8008172 PMID:19731987 PMID:19747051

NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344

G

phosphatase and tensin homolog

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

PMID:792966 PMID:12085208 PMID:17873882 PMID:19340001 PMID:19458356 More...

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

G

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

DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)

RGD

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

G

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

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

CTD
RGD

PMID:35681054 PMID:29409008

NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829

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

Merkel cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cd68 molecule

protein:increased expression:tumor (human)

RGD

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

fibroblast growth factor receptor 3

mRNA:decreased expression:skin (human)

RGD

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

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

sperm autoantigenic protein 17

mRNA,protein:increased expression:nucleus

RGD

NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639

mixed glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of telomere elongation helicase 1

susceptibility

DNA:SNPs:multiple:multiple (human)

RGD

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

Nerve Sheath Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

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

G

embryonic ectoderm development

CTD Direct Evidence: marker/mechanism

NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974

G

forkhead box R2

CTD Direct Evidence: marker/mechanism

NCBI chr X:18,242,420...18,276,095
Ensembl chr X:18,244,255...18,245,163

G

hepatocyte growth factor

protein:increased expression: :

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

MET proto-oncogene, receptor tyrosine kinase

disease_progression

protein:increased expression:tumor (human)

RGD

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

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

PMID:20176786 PMID:25240281

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

G

phosphatase and tensin homolog

disease_progression

RGD

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

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:25240281 PMID:25305755

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

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

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

neurilemmoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase family, AAA domain containing 5

mRNA:increased expression:neural tissue (human)

RGD

NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845

G

Axl receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265

G

cyclin-dependent kinase inhibitor 2A

DNA,protein:deletion,decreased expression: :

RGD

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

G

embryonic ectoderm development

CTD Direct Evidence: marker/mechanism

NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974

G

kinase insert domain receptor

mRNA:decreased expression:brain:

RGD

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

G

leucine zipper like post translational regulator 1

DNA:missense mutation:cds,multiple (human)

RGD

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

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

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

DNA:loss of heterozygosity

RGD

NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:tumor (human)

RGD

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

G

serpin family E member 1

mRNA,protein:increased expression:schwann cell

RGD

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

G

SIX homeobox 1

mRNA:increased expression:Schwann cell (human)

RGD

NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975

G

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

ClinVar Annotator: match by term: Schwannoma

PMID:18647326 PMID:22434358 PMID:22949514 PMID:24933152 PMID:25631985 More...

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

G

synuclein alpha

protein:increased expression:cytoplasm

RGD

NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262

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

WT1 transcription factor

CTD Direct Evidence: therapeutic

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

neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ALK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility

PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More...

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

G

arachidonate 5-lipoxygenase activating protein

mRNA, protein:increased expression:neuroblastoma (human)

RGD

NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism
DNA:mutations,loss of heterozygosity: :

CTD
RGD

PMID:23202128 PMID:23202128

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

G

AT-rich interaction domain 1B

CTD Direct Evidence: marker/mechanism
DNA:deletion,haploinsufficiency: :

CTD
RGD

PMID:23202128 PMID:23202128

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

G

ATRX, chromatin remodeler

CTD Direct Evidence: marker/mechanism

PMID:23334666 PMID:26523776

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

G

aurora kinase A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390

G

BRCA1 associated RING domain 1

CTD Direct Evidence: marker/mechanism

PMID:19412175 PMID:23334666

NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265

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

baculoviral IAP repeat-containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732

G

baculoviral IAP repeat-containing 3

CTD Direct Evidence: marker/mechanism

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

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Neuroblastoma

PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More...

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

G

CD44 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620

G

CD55 molecule (Cromer blood group)

RGD

NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831

G

cyclin-dependent kinase inhibitor 2A

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15814359 PMID:24714808

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

G

chromatin assembly factor 1 subunit A

disease_progression

mRNA:increased expression: :

RGD

PMID:24335960 PMID:24335960

RGD:9587458, RGD:9587458

NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654

G

chromodomain helicase DNA binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291

G

chromodomain helicase DNA binding protein 6

CTD Direct Evidence: marker/mechanism

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

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism

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

G

dopamine beta-hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248

G

dedicator of cytokinesis 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

FA complementation group A

ClinVar Annotator: match by term: Neuroblastoma

PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More...

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

G

Fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Neuroblastoma

PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More...

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

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Neuroblastoma

PMID:26822237 PMID:28492532

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

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103

G

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:15814359 PMID:26121086

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

G

interferon beta 1

CTD Direct Evidence: therapeutic

NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523

G

insulin-like growth factor 1 receptor

protein: decreased tyrosine phosphorylation: : Y1131

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor 2 mRNA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129

G

interleukin 18

susceptibility

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

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

ISL LIM homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584

G

kinesin family member 1B

susceptibility

ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 More...

NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

lin-28 homolog B

CTD Direct Evidence: marker/mechanism

PMID:22941191 PMID:23042116

NCBI chr20:48,865,329...48,964,769
Ensembl chr20:48,869,485...48,955,077

G

mitogen activated protein kinase kinase 4

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993

G

mitogen activated protein kinase kinase 7

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222

G

menin 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

MET proto-oncogene, receptor tyrosine kinase

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

PMID:16051641 PMID:26822237

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

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

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

G

mitochondrially encoded cytochrome c oxidase II

CTD Direct Evidence: marker/mechanism

NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689

G

mitochondrial fission process 1

severity

mRNA:increased expression:neural tissue (human)

RGD

NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

MYC proto-oncogene, bHLH transcription factor

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

PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302

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: Neuroblastoma
CTD Direct Evidence: marker/mechanism

PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 More...

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

G

NME/NM23 nucleoside diphosphate kinase 1

RGD

NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408

G

neuronatin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834

G

nodal growth differentiation factor

mRNA:increased expression:neural tissue (human)

RGD

NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837

G

NRAS proto-oncogene, GTPase

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

PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 More...

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

G

nuclear receptor binding SET domain protein 1

severity

DNA:hypermethylation:promoter:CpG islands (human)

RGD

NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358

G

5' nucleotidase, ecto

CTD Direct Evidence: therapeutic

NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881

G

neurotrophic receptor tyrosine kinase 1

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16989911 PMID:8433391

NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770

G

neurotrophic receptor tyrosine kinase 2

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

PMID:16051641 PMID:26822237

NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136

G

p21 (RAC1) activated kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413

G

platelet and endothelial cell adhesion molecule 1

human tumor in mouse model

RGD

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

G

PHD finger protein 6

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127

G

paired-like homeobox 2b

exacerbates

ClinVar Annotator: match by term: Neuroblastoma
human cell line in a mouse model
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:25174395 PMID:30127528 PMID:26840262

NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978

G

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

ClinVar Annotator: match by term: Neuroblastoma

PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More...

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

G

PTEN induced kinase 1

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

PMID:23334666 PMID:25741868

NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635

G

PRAME like, X-linked 1

severity

mRNA:increased expression:neural tissue (human)

RGD

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

proteasome 26S subunit, non-ATPase 14

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,254,338...46,347,076
Ensembl chr 3:46,254,330...46,347,076

G

patched 1

ClinVar Annotator: match by term: Neuroblastoma

PMID:25741868 PMID:28492532

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

G

protein tyrosine phosphatase, non-receptor type 11

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

PMID:11704759 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 More...

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

G

protein tyrosine phosphatase, non-receptor type 14

CTD Direct Evidence: marker/mechanism

NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088

G

Ras association domain family member 1

RGD

PMID:17325427 PMID:12222680

RGD:2291979, RGD:2291977

NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164

G

Ras association domain family member 5

CTD Direct Evidence: marker/mechanism

NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024

G

RNA binding motif protein 15

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 2:194,945,974...194,954,498
Ensembl chr 2:194,945,974...194,954,703

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

sodium channel epithelial 1 subunit alpha

disease_progression

Low levels of methylation correlate with improved survival

RGD

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Neuroblastoma

PMID:21979946 PMID:25741868 PMID:28492532

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

G

semaphorin 3B

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975

G

small nuclear ribonucleoprotein polypeptide E

severity

mRNA:decreased expression:neuroblastoma (human)

RGD

NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310

G

T-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

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

G

tyrosine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

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

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

PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 More...

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

G

tumor protein p73

no_association

RGD

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

G

TSC complex subunit 1

ClinVar Annotator: match by term: Neuroblastoma

NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674

G

TSC complex subunit 2

ClinVar Annotator: match by term: Neuroblastoma

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

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

G

zinc finger protein (C2H2 type) 276

ClinVar Annotator: match by term: Neuroblastoma

PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More...

NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049

Neuroblastoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeobox 2b

ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2

PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More...

NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978

Neuroblastoma 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

susceptibility

ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 More...

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

G

CAP-GLY domain containing linker protein family, member 4

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 6:23,616,280...23,697,625
NCBI chr 6:23,718,580...23,729,231
NCBI chr 6:23,597,729...23,601,000
Ensembl chr 6:23,616,281...23,677,874

G

photoreceptor cilium actin regulator

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169

G

TOG array regulator of axonemal microtubules 2

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 6:23,770,979...23,828,884
Ensembl chr 6:23,771,052...23,828,499

G

WD repeat domain 43

ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3

NCBI chr 6:23,845,499...23,884,846
Ensembl chr 6:23,845,499...23,884,846

neuroectodermal tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

neuroendocrine carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

enolase 2

RGD

NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980

neuroendocrine tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

CTD Direct Evidence: marker/mechanism

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

G

Brca1 associated protein 1

CTD Direct Evidence: marker/mechanism

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

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

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

G

calreticulin

exacerbates

human cells and recombinant protein in a mouse model

RGD

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

cyclin-dependent kinase inhibitor 1B

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

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

death-domain associated protein

severity

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21252315 PMID:23954140

NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843

G

menin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

parathyroid hormone-like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847

G

somatostatin receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802

G

somatostatin receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:98,664,204...98,671,370
Ensembl chr10:98,664,216...98,674,351

G

somatostatin receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:110,092,563...110,109,043
Ensembl chr 7:110,092,575...110,099,769

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

neurofibroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine demethylase 6B

mRNA, protein:increased expression:sciatic nerve (mouse)

RGD

NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794

G

KIT proto-oncogene receptor tyrosine kinase

mRNA:increased expression:skin:

RGD

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

neurofibromin 1

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

PMID:9783703 PMID:10712197 PMID:12807981 PMID:16199547 PMID:16835897 More...

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

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Neurofibroma

PMID:17052965 PMID:21548061 PMID:24033266 PMID:24451042 PMID:24803665 More...

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

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

neurofibroma of spinal cord

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurofibromin 1

ClinVar Annotator: match by term: Spinal neurofibroma

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

neurofibromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6

PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 More...

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

G

sprouty-related, EVH1 domain containing 1

ClinVar Annotator: match by term: Neurofibromatosis

PMID:17704776 PMID:24469042 PMID:25741868 PMID:28492532

NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718

neurofibromatosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 15

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:62,363,209...62,368,600
Ensembl chr10:62,363,209...62,368,600

G

ArfGAP with dual PH domains 2

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:65,138,006...65,166,147
Ensembl chr10:65,138,020...65,165,604

G

ankyrin repeat domain 13B

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:62,319,660...62,338,342
Ensembl chr10:62,319,647...62,340,253

G

ATPase family, AAA domain containing 5

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845

G

bone gamma-carboxyglutamate protein

protein:decreased expression:blood

RGD

NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

bleomycin hydrolase

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:61,772,112...61,815,212
Ensembl chr10:61,758,478...61,815,212

G

coronin 6

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:62,311,552...62,319,659
Ensembl chr10:62,311,660...62,319,659

G

carboxypeptidase D

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:61,623,528...61,687,491
Ensembl chr10:61,623,526...61,687,491

G

cytokine receptor-like factor 3

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:65,024,228...65,060,746
Ensembl chr10:65,023,388...65,060,670

G

crystallin, beta A1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726

G

EF-hand calcium binding domain 5

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:61,926,419...62,042,745
Ensembl chr10:61,926,953...62,042,749

G

ecotropic viral integration site 2A

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More...

NCBI chr10:64,485,760...64,489,660
Ensembl chr10:64,485,200...64,489,843

G

ecotropic viral integration site 2B

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More...

NCBI chr10:64,472,693...64,474,311
Ensembl chr10:64,471,505...64,481,560

G

gamma-aminobutyric acid type B receptor subunit 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994

G

GIT ArfGAP 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:62,342,082...62,356,379
Ensembl chr10:62,342,299...62,356,373

G

golgi SNAP receptor complex member 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:61,570,499...61,607,287
Ensembl chr10:61,450,494...61,607,177
Ensembl chr10:61,450,494...61,607,177

G

neurofibromin 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease
ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease
OMIM:162200
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:190611 PMID:1071297 PMID:1302608 PMID:1370276 PMID:1483690 More...

RGD:1302540, RGD:151708706, RGD:1580933

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

G

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

ClinVar Annotator: match by term: Neurofibromatosis, type 1

NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

G

nuclear speckle splicing regulatory protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:61,880,807...61,914,471
Ensembl chr10:61,880,825...61,914,471

G

nuclear FMR1 interacting protein 2

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:62,574,922...62,607,729
Ensembl chr10:62,574,882...62,600,346

G

oligodendrocyte-myelin glycoprotein

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More...

NCBI chr10:64,461,350...64,464,084
Ensembl chr10:64,461,350...64,464,084

G

ring finger protein 135

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804

G

solute carrier family 6 member 4

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384

G

sprouty-related, EVH1 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718

G

slingshot protein phosphatase 2

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:62,057,400...62,309,328
Ensembl chr10:62,057,044...62,306,563

G

TAO kinase 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:62,373,072...62,465,295
Ensembl chr10:62,381,404...62,465,766

G

transcription elongation factor, mitochondrial

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:65,119,657...65,124,233
Ensembl chr10:65,119,659...65,124,486

G

transmembrane and immunoglobulin domain containing 1

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:61,739,071...61,751,025
Ensembl chr10:61,736,462...61,751,025

G

tumor protein p53 inducible protein 13

ClinVar Annotator: match by term: Neurofibromatosis, type 1

PMID:10712197 PMID:23913538 PMID:28492532

NCBI chr10:62,356,722...62,363,122
Ensembl chr10:62,356,722...62,361,343

G

vascular endothelial growth factor A

mRNA,protein:increased expression:dermis

RGD

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

neurofibromatosis-Noonan syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen activated protein kinase kinase 2

ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome

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

G

neurofibromin 1

ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More...

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

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome

PMID:22465605 PMID:28074573 PMID:28492532

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

G

sprouty-related, EVH1 domain containing 1

ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718

neurofibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase insert domain receptor

RGD

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

G

MAX interactor 1, dimerization protein

ClinVar Annotator: match by term: Neurofibrosarcoma

PMID:10470286 PMID:10470286

NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:252,323,303...252,383,681

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

vascular endothelial growth factor A

protein:increased expression:peripheral nerve

RGD

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

non-functioning pancreatic endocrine tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

exacerbates

protein:decreased expression:endocrine pancreas (human)

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

G

cyclin-dependent kinase 4

associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)

RGD

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

G

cyclin-dependent kinase 6

associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)

RGD

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

ocular melanoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Brca1 associated protein 1

ClinVar Annotator: match by term: Intraocular melanoma

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

G

transmembrane protein 127

ClinVar Annotator: match by term: Intraocular melanoma

PMID:25741868 PMID:28492532

NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519

olfactory neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hypoxia inducible factor 1 subunit alpha

severity

protein:increased expression:neuroblastoma (human)

RGD

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

oligodendroglioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Oligodendroglioma

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

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

capicua transcriptional repressor

ClinVar Annotator: match by term: Oligodendroglioma

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

G

deltex E3 ubiquitin ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:35,849,647...35,880,835
Ensembl chr12:35,849,617...35,880,838

G

epidermal growth factor

susceptibility

DNA:polymorphism:promoter:GG genotypes were associated with increased risk.

RGD

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

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

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

isocitrate dehydrogenase (NADP(+)) 1

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

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20160062 More...

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

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

RGD

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

G

prostaglandin E synthase 3

protein:increased expression:brain cortex, white matter (human)

RGD

NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084

G

RB transcriptional corepressor 1

disease_progression

RGD

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

optic nerve glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALX homeobox 4

ClinVar Annotator: match by term: Optic nerve glioma

NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260

G

C-X3-C motif chemokine receptor 1

onset

associated with Neurofibromatosis 1

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

neurofibromin 1

susceptibility

associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma

PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 More...

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

Pallister-Hall syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GLI family zinc finger 3

DNA:frameshift deletions
ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome
OMIM:146510
DNA:mutations:exon, intron:multiple
DNA:deletions
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:6641002 PMID:9054938 PMID:9148633 PMID:9536098 PMID:10441570 More...

RGD:1599838, RGD:12738222, RGD:12738205, RGD:12738143

NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712

pancreatic endocrine carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas

PMID:15145354 PMID:22762150 PMID:25741868 PMID:29446198

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

G

cut-like homeobox 1

exacerbates

protein:increased expression:pancreas (human)

NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866

G

death-domain associated protein

disease_progression

DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human)

RGD

NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

RGD

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

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas

PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More...

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

G

placental growth factor

disease_progression
treatment

protein:increased expression:serum (human)
human cells in a mouse model

RGD

PMID:23463017 PMID:26861455

RGD:14349029, RGD:14349030

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

peripheral nervous system neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatase and tensin homolog

associated with Neurofibromatosis 1;DNA:loss of heterozygosity:cds: (human)

RGD

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

PERITONEAL GLIOMATOSIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc gamma receptor 1A

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994

G

H2B clustered histone 18

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr 2:183,838,331...183,842,769
Ensembl chr 2:183,838,334...183,841,529

G

RT1 class II, locus Db1

ClinVar Annotator: match by term: Peritoneal Gliomatosis

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

pilocytic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

folliculin

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532

NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 More...

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

G

neurofibromin 1

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532

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

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565

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

G

ret proto-oncogene

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:25741868 PMID:28492532

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: Pilocytic astrocytoma, somatic

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

pilomyxoid astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Pilomyxoid astrocytoma

PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 More...

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

pituitary adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arginine vasopressin receptor 1B

RGD

NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792

G

cyclin-dependent kinase inhibitor 1B

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 1B; white eye mutation

RGD

G

G protein-coupled receptor kinase 2

mRNA:altered expression:pituitary gland (human)

RGD

NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582

pituitary adenoma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl-hydrocarbon receptor-interacting protein

ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma predisposition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2200621 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17341560 More...

NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122

pituitary adenoma 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GNAS complex locus

ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types

PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More...

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

pituitary adenoma 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl-hydrocarbon receptor-interacting protein

ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

PMID:25741868 PMID:28492532

NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122

G

similar to human chromosome 10 open reading frame 105

ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:16199547 More...

NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487

G

cadherin-related 23

ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 More...

NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419

G

menin 1

ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

PMID:25741868 PMID:28492532

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

V-set immunoregulatory receptor

ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878

pituitary carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Pituitary carcinoma

PMID:7628019 PMID:15256438 PMID:16144131 PMID:16619239 PMID:17557300 More...

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

Pituitary Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin II receptor, type 1a

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

cyclin-dependent kinase inhibitor 1A

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

clusterin

treatment

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

dopamine receptor D2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875

G

estrogen receptor 2

mRNA:decreased expression:pituitary gland (human)

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

growth hormone 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

G

growth hormone releasing hormone

Adenoma; human gene in mouse model

RGD

NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889

G

GNAS complex locus

DNA:missense mutations: :p.201R>C, p.201R>H, p.227Q>R (human)

RGD

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

heterogeneous nuclear ribonucleoprotein K

mRNA:decreased expression:pituitary gland (rat)

RGD

NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997

G

insulin-like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 6 cytokine family signal transducer

RGD

NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936

G

menin 1

DNA, protein:mutations,polymorphisms, increased expression:Pituitary Gland

RGD

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

protein kinase C, alpha

DNA:point mutation:somatic:D294G

RGD

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

G

prolactin

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:2274009 PMID:3498743 PMID:6156259

NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062

G

PTTG1 regulator of sister chromatid separation, securin

RGD

NCBI chr10:27,893,466...27,904,965
Ensembl chr10:27,893,689...27,904,837

G

RB transcriptional corepressor 1

RGD

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

G

serine and arginine rich splicing factor 1

mRNA:increased expression:pituitary gland (human)

RGD

NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336

plexiform neurofibroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Axl receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265

G

neurofibromin 1

associated with severe combined immunodeficiency, human cells in mouse model

RGD

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

Primitive Neuroectodermal Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EWS RNA-binding protein 1

CTD Direct Evidence: marker/mechanism

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

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

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

PMS1 homolog 2, mismatch repair system component

CTD Direct Evidence: marker/mechanism

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

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829

G

TSC complex subunit 1

ClinVar Annotator: match by term: Primitive neuroectodermal tumor

PMID:16554133 PMID:21309039 PMID:22703879 PMID:23514105 PMID:25077650 More...

NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674

Primitive Peripheral Neuroectodermal Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

prolactinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

protein:increased expression:pituitary gland
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16809920 PMID:12552124

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

CCAAT/enhancer binding protein delta

CTD Direct Evidence: marker/mechanism

NCBI chr11:84,764,670...84,765,808
Ensembl chr11:84,764,565...84,765,829

G

15-hydroxyprostaglandin dehydrogenase

mRNA:decreased expression:pituitary gland

RGD

NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228

G

LDL receptor related protein 2

ClinVar Annotator: match by term: Prolactinoma, familial

PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532

NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708

G

menin 1

OMIM:600634

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

MYC proto-oncogene, bHLH transcription factor

mRNA:increased expression:pituitary gland (rat)

RGD

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

G

noggin

mRNA, protein:decreased expression:pituitary

RGD

NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339

G

neuropeptide Y receptor Y5

protein:increased expression:pars anterior

RGD

NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382

G

prolactin

sexual_dimorphism

mRNA:increased expression:pituitary gland
protein:increased expression:blood serum (human)
CTD Direct Evidence: marker/mechanism
DNA:mutation

CTD
RGD

PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:17260475 More...

RGD:1642576, RGD:401976454, RGD:401960111, RGD:1642576

NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062

G

prostaglandin-endoperoxide synthase 2

mRNA:increased expression:pituitary gland

RGD

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

Prostate Cancer/Brain Cancer Susceptibility

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Eph receptor B2

susceptibility

ClinVar Annotator: match by term: Prostate cancer/brain cancer susceptibility
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

PMID:15300251 PMID:16155194 PMID:25741868 PMID:28492532

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

retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell adhesion molecule 2

mRNA, protein:decreased expression:retina

RGD

NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400

G

cyclin-dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

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

G

dicer 1 ribonuclease III

exacerbates

DNA:deletion:haploinsufficiency

RGD

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

G

FA complementation group M

ClinVar Annotator: match by term: Retinoblastoma

NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028

G

Fas cell surface death receptor

severity

protein:decreased expression:tumor (human)

RGD

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

G

interferon beta 1

ameliorates

RGD

NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523

G

integral membrane protein 2B

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 More...

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

G

lysine demethylase 1B

mRNA:increased expression:retina (human)

RGD

NCBI chr17:17,602,961...17,643,865
Ensembl chr17:17,602,961...17,643,800

G

lysophosphatidic acid receptor 6

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 More...

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

G

MYC associated factor X

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137

G

mediator complex subunit 4

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 More...

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

G

O-6-methylguanine-DNA methyltransferase

disease_progression

DNA:hypermethylation:promoter (human)

RGD

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

G

microRNA 182

treatment

miRNA:increased expression:retina

RGD

PMID:30320366 PMID:30320366

RGD:15092072, RGD:15092072

NCBI chr 4:58,784,818...58,784,879
Ensembl chr 4:58,784,818...58,784,879

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:SNP::2756A>G(human)

RGD

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 More...

NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146

G

neurofibromin 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:25741868 PMID:28492532

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

G

nudix hydrolase 15

ClinVar Annotator: match by term: Retinoblastoma

PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More...

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

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Retinoblastoma

PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 More...

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

G

patched 1

ClinVar Annotator: match by term: Retinoblastoma

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple

OMIM
ClinVar
CTD
RGD

PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 More...

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

G

serpin family F member 1

treatment

human protein and tumor xenograft in a mouse model

RGD

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

synuclein, gamma

RGD

NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368

schwannomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine zipper like post translational regulator 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis
DNA, protein:multiple, multiple:multiple, blood (human)
DNA:multiple:multiple (human)

CTD
ClinVar
RGD

PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More...

RGD:151708709, RGD:151708708, RGD:151708704

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

G

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis
DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
DNA:multiple:multiple (human)

CTD
ClinVar
RGD

PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:24362817 More...

RGD:155804288, RGD:151708708, RGD:151708704

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

schwannomatosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

ClinVar Annotator: match by term: Schwannomatosis 1

PMID:7798645 PMID:9399891 PMID:25741868

NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

G

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

ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic

PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More...

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

schwannomatosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine zipper like post translational regulator 1

susceptibility

ClinVar Annotator: match by term: Schwannomatosis 2

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More...

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

seminoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin D2

mRNA, protein:increased expression:testis

RGD

NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495

G

checkpoint kinase 2

protein:decreased expression:testis

RGD

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

G

ectonucleoside triphosphate diphosphohydrolase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:139,575,659...139,598,163
Ensembl chr 3:139,575,686...139,598,154

G

Fas cell surface death receptor

mRNA, protein:decreased expression:testis

RGD

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

G

Fas ligand

mRNA, protein:increased expression:testis

RGD

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

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

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

G

fragile histidine triad diadenosine triphosphatase

RGD

NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340

G

hydroxymethylbilane synthase

mRNA:increased expression:tumor (human)

RGD

NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957

G

HRas proto-oncogene, GTPase

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

CTD
RGD

PMID:19855393 PMID:19855393

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

G

inhibin subunit alpha

RGD

NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248

G

insulin receptor

RGD

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

junction plakoglobin

RGD

NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057

G

potassium voltage-gated channel subfamily E regulatory subunit 1

RGD

NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901

G

potassium voltage-gated channel subfamily Q member 1

RGD

NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669

G

KIT proto-oncogene receptor tyrosine kinase

RGD

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

KRAS proto-oncogene, GTPase

RGD

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

G

proliferating cell nuclear antigen

disease_progression

RGD

NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995

G

platelet derived growth factor receptor alpha

mRNA:splice variant:testis

RGD

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

G

podoplanin

RGD

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

G

phospholipase A and acyltransferase 3

RGD

NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667

G

POU class 5 homeobox 1

protein:increased expression:chest
DNA:hypomethylation:promoter
mRNA, protein:increased expression:testis

RGD

PMID:18162782 PMID:17549357 PMID:17785371

RGD:2292429, RGD:2292433, RGD:2292432

NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891

G

protein arginine methyltransferase 5

protein:altered localization

RGD

NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296

G

RB transcriptional corepressor 1

protein:decreased expression:testis

RGD

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

G

SMAD family member 4

DNA, protein:insertion, decreased expression:1521insT

RGD

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

testis specific protein, Y-linked 1

protein:increased expression:testis

RGD

G

thymidine phosphorylase

protein:increased expression:testis

RGD

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

G

vascular endothelial growth factor A

disease_progression

protein:increased expression:testis

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:polymorphism: :p.R399Q

RGD

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

G

zinc finger protein 354A

mRNA:increased expression:testis

RGD

NCBI chr10:35,396,242...35,408,069
Ensembl chr10:35,396,231...35,408,068

spermatocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Spermatocytic seminoma

PMID:7773297 PMID:8599935 PMID:8754806 PMID:9207791 PMID:9677066 More...

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

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Spermatocytic seminoma

PMID:12727991 PMID:19855393 PMID:25157968 PMID:31775759

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

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Spermatocytic seminoma

PMID:12727991 PMID:19855393 PMID:25157968 PMID:31775759

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

spinal neurofibromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurofibromin 1

ClinVar Annotator: match by term: Neurofibromatosis, familial spinal
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More...

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

subependymal giant cell astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma

PMID:25741868 PMID:28492532

NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225

supratentorial primitive neuroectodermal tumor

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: Supratentorial primitive neuroectodermal tumor

PMID:21882293 PMID:24481001 PMID:24513630 PMID:24617712 PMID:24675358 More...

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

thyroid gland medullary carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Medullary thyroid gland carcinoma

PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17062680 More...

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

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma

PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More...

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

trilateral retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Trilateral retinoblastoma

PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 More...

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

uveal melanoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Brca1 associated protein 1

disease_progression

mRNA,protein:decreased expression: :
ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:16341802 PMID:19197335 PMID:21874000 PMID:23032617 PMID:23684012 More...

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

G

baculoviral IAP repeat-containing 7

exacerbates

mRNA:increased expression:uvea (human)

NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606

G

BRCA2, DNA repair associated

susceptibility

DNA:mutations: :

RGD

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

G

C-reactive protein

disease_progression

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

cysteinyl leukotriene receptor 2

CTD Direct Evidence: marker/mechanism

PMID:27089179 PMID:33288675

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

G

eukaryotic translation initiation factor 1A, X-linked

CTD Direct Evidence: marker/mechanism

NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335

G

G protein subunit alpha 11

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

PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More...

NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812

G

G protein subunit alpha q

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

PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More...

NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672

G

insulin-like growth factor 1

disease_progression

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

jumonji domain containing 6, arginine demethylase and lysine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr10:102,041,131...102,047,182
Ensembl chr10:102,041,120...102,047,182

G

lysine demethylase 5B

severity

protein:increased expression:uvea (human)

RGD

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

G

kinase insert domain receptor

disease_progression

RGD

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

G

methyl-CpG binding domain 4 DNA glycosylase

susceptibility

ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 PMID:32239153 More...

NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982

G

melanoma cell adhesion molecule

disease_progression

RGD

NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571

G

phospholipase C, beta 4

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

PMID:27089179 PMID:31186267

NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392

G

PRAME like, X-linked 1

severity

mRNA:increased expression:uvea (human)

RGD

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

RT1 class I, locus CE13

severity

protein:increased expression:tumor of uvea (human)

RGD

NCBI chr20:3,314,830...3,318,106

G

serpin family E member 1

treatment

human gene in mouse model

RGD

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

G

serpin family F member 1

severity

RGD

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

splicing factor 3b, subunit 1

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

PMID:23313955 PMID:23793026 PMID:25741868 PMID:26619011

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

G

transmembrane protein 127

ClinVar Annotator: match by term: Uveal melanoma

PMID:25741868 PMID:28492532

NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519

G

vascular endothelial growth factor A

protein:increased expression:iris, ciliary body, vitreous body;

RGD

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

vestibular schwannomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit beta 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778

G

activating signal cointegrator 1 complex subunit 2

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,503,449...79,547,801
Ensembl chr14:79,503,517...79,545,494

G

chromosome 14 C22orf31 homolog

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

G

calcium binding protein 7

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,598,822...79,609,172
Ensembl chr14:79,598,827...79,609,240

G

coiled-coil domain containing 117

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:80,399,236...80,409,824
Ensembl chr14:80,400,294...80,409,659

G

checkpoint kinase 2

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

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

G

EMI domain containing 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:80,000,486...80,043,561
Ensembl chr14:80,000,486...80,043,620

G

EWS RNA-binding protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

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

G

growth arrest-specific 2 like 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,955,350...79,961,830
Ensembl chr14:79,950,555...79,961,438

G

HscB mitochondrial iron-sulfur cluster co-chaperone

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909

G

kringle containing transmembrane protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516

G

myotubularin related protein 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,340,523...79,460,947
Ensembl chr14:79,340,513...79,461,041

G

neurofilament heavy chain

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

G

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

ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM:101000
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 More...

RGD:151708708, RGD:151708704

NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

G

nipsnap homolog 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,734,234...79,758,101
Ensembl chr14:79,734,209...79,758,098

G

RAS-like, family 10, member A

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,955,093...79,956,471
Ensembl chr14:79,954,398...79,956,468

G

rhomboid domain containing 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,994,111...80,000,294
Ensembl chr14:79,994,158...80,000,175

G

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

DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)

RGD

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

G

THO complex subunit 5

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,758,805...79,792,718
Ensembl chr14:79,758,917...79,792,718

G

ubiquinol-cytochrome c reductase, complex III subunit X

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,566,151...79,569,017
Ensembl chr14:79,566,157...79,569,003

G

vascular endothelial growth factor A

RGD

PMID:20406973 PMID:19587327

RGD:8547955, RGD:8547957

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

G

X-box binding protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693

G

zinc finger, matrin type 5

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:79,568,644...79,599,595
Ensembl chr14:79,568,758...79,599,594

G

zinc and ring finger 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr14:80,157,854...80,313,456
Ensembl chr14:80,160,278...80,313,485

vipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon, alpha 1

CTD Direct Evidence: therapeutic

NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925

G

menin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

somatostatin

CTD Direct Evidence: therapeutic

NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173

Term paths to the root

Path 1
Term	Annotations
disease	21128
disease of cellular proliferation	7667
cancer	5483
organ system cancer	5237
nervous system cancer	959
central nervous system cancer +	766
neuroectodermal tumor +	448
peripheral nervous system neoplasm +	185
sensory system cancer +	110

paths to the root